#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
YY2	404281	broad.mit.edu	37	X	21875524	21875524	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:21875524G>A	ENST00000429584.2	+	1	1420	c.922G>A	c.(922-924)Gag>Aag	p.E308K	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	308	Mediates transcriptional repression.				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(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCACACCGGCGAGAAGCCCTT	0.542																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(922-924)Gag>Aag		YY2 transcription factor							176.0	174.0	175.0					X																	21875524		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875524G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.922G>A	X.37:g.21875524G>A	ENSP00000389381:p.Glu308Lys					MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	p.E308K	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1420	+			308			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.922G>A	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972962	0.74246	.	.	ENSG00000230797	ENST00000429584	T	0.24350	1.86	4.6	4.6	0.57074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.38585	0.1046	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.25293	-1.0136	10	0.72032	D	0.01	.	14.034	0.64634	0.0:0.0:1.0:0.0	.	308	O15391	TYY2_HUMAN	K	308	ENSP00000389381:E308K	ENSP00000389381:E308K	E	+	1	0	YY2	21785445	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	9.657000	0.98554	2.276000	0.75962	0.544000	0.68410	GAG		0.542	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		121	19	0	0	0	1	0	121	19				
PI4KA	5297	broad.mit.edu	37	22	21172825	21172825	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr22:21172825G>A	ENST00000572273.1	-	7	858	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	PI4KA_ENST00000255882.6_Missense_Mutation_p.R268C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	210					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCATGCCGCGTTCAGGGCTG	0.498																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(802-804)Cgc>Tgc		phosphatidylinositol 4-kinase, catalytic, alpha							55.0	52.0	53.0					22																	21172825		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21172825G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.628C>T	22.37:g.21172825G>A	ENSP00000458238:p.Arg210Cys					PI4KA_ENST00000572273.1_Missense_Mutation_p.R210C	p.R268C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		7	888	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	210					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.802C>T		.	.	.	.	.	.	.	.	.	.	G	18.07	3.540532	0.65085	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.16	4.12	0.48240	.	0.255913	0.38217	N	0.001769	T	0.46619	0.1402	N	0.22421	0.69	0.80722	D	1	D;P	0.59767	0.986;0.876	P;B	0.49502	0.613;0.183	T	0.49753	-0.8906	9	0.54805	T	0.06	-12.1546	14.2595	0.66076	0.0733:0.0:0.9267:0.0	.	268;210	D3DX33;P42356	.;PI4KA_HUMAN	C	210	.	ENSP00000255882:R210C	R	-	1	0	PI4KA	19502825	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	5.252000	0.65445	2.678000	0.91216	0.563000	0.77884	CGC		0.498	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		10	3	0	0	0	1	0	10	3				
TMEM132B	114795	broad.mit.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	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							98.0	96.0	97.0					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		26	55	0	0	0	1	0	26	55				
VPS13D	55187	broad.mit.edu	37	1	12333082	12333082	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:12333082T>A	ENST00000358136.3	+	18	2256	c.2126T>A	c.(2125-2127)gTg>gAg	p.V709E	VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATGGACCGTGCGGCTGGAT	0.428																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(2125-2127)gTg>gAg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							146.0	136.0	140.0					1																	12333082		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12333082T>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2126T>A	1.37:g.12333082T>A	ENSP00000350854:p.Val709Glu					VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	p.V709E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	18	2256	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	709						Missense_Mutation	SNP	ENST00000358136.3	37	c.2126T>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228549	0.79576	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.57595	0.39;0.39	5.16	5.16	0.70880	.	0.120397	0.56097	D	0.000040	T	0.56016	0.1957	L	0.43152	1.355	0.80722	D	1	D;P	0.53885	0.963;0.938	P;P	0.50754	0.649;0.603	T	0.61252	-0.7100	10	0.87932	D	0	.	15.0014	0.71476	0.0:0.0:0.0:1.0	.	709;709	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	E	709	ENSP00000348666:V709E;ENSP00000350854:V709E	ENSP00000348666:V709E	V	+	2	0	VPS13D	12255669	1.000000	0.71417	0.780000	0.31762	0.470000	0.32858	7.651000	0.83577	1.929000	0.55896	0.477000	0.44152	GTG		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		18	66	0	0	0	1	0	18	66				
PROM1	8842	broad.mit.edu	37	4	16019994	16019994	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr4:16019994G>A	ENST00000510224.1	-	9	1202	c.954C>T	c.(952-954)agC>agT	p.S318S	PROM1_ENST00000508167.1_Silent_p.S309S|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000505450.1_Silent_p.S309S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000540805.1_Silent_p.S318S			O43490	PROM1_HUMAN	prominin 1	318					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						ACAATCTGATGCTGTTGCAGG	0.537																																						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.(925-927)agC>agT		prominin 1							112.0	106.0	108.0					4																	16019994		2074	4227	6301	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.chr4:16019994G>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.954C>T	4.37:g.16019994G>A						PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000510224.1_Silent_p.S318S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000508167.1_Silent_p.S309S	p.S309S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			8	1539	-			318					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.927C>T	CCDS47029.1																																																																																				0.537	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		17	29	0	0	0	1	0	17	29				
NTNG2	84628	broad.mit.edu	37	9	135102298	135102298	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:135102298G>T	ENST00000393229.3	+	4	1696	c.920G>T	c.(919-921)tGc>tTc	p.C307F	NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F|NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	307	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CAGTGCGAGTGCGAGCACAAC	0.657																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(919-921)tGc>tTc		netrin G2							46.0	40.0	42.0					9																	135102298		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102298G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.920G>T	9.37:g.135102298G>T	ENSP00000376921:p.Cys307Phe					NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F	p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1696	+			307			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.920G>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235269	0.79800	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.86	4.86	0.63082	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.126140	0.53938	D	0.000048	D	0.98264	0.9425	H	0.98256	4.185	0.80722	D	1	D	0.69078	0.997	D	0.65233	0.933	D	0.99847	1.1067	10	0.87932	D	0	.	16.9626	0.86277	0.0:0.0:1.0:0.0	.	307	Q96CW9	NTNG2_HUMAN	F	307	ENSP00000376921:C307F;ENSP00000376920:C307F;ENSP00000353888:C307F;ENSP00000361252:C307F	ENSP00000353888:C307F	C	+	2	0	NTNG2	134092119	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	9.471000	0.97696	2.242000	0.73789	0.313000	0.20887	TGC		0.657	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		5	10	1	0	0.00198382	1	0.00202694	5	10				
ATR	545	broad.mit.edu	37	3	142231277	142231277	+	Missense_Mutation	SNP	G	G	C	rs112726878	byFrequency	TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:142231277G>C	ENST00000350721.4	-	27	4798	c.4677C>G	c.(4675-4677)gaC>gaG	p.D1559E	ATR_ENST00000383101.3_Missense_Mutation_p.D1495E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1559					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						TATGCTGATCGTCATGCTTTA	0.343								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.(4675-4677)gaC>gaG	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							156.0	133.0	141.0					3																	142231277		2203	4300	6503	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.chr3:142231277G>C	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.4677C>G	3.37:g.142231277G>C	ENSP00000343741:p.Asp1559Glu					ATR_ENST00000383101.3_Missense_Mutation_p.D1495E	p.D1559E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			27	4798	-			1559					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4677C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	6.901	0.535758	0.13188	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.20332	3.48;2.08	5.24	-1.61	0.08399	.	0.173029	0.51477	D	0.000097	T	0.09468	0.0233	L	0.27053	0.805	0.41612	D	0.988913	B	0.11235	0.004	B	0.10450	0.005	T	0.35624	-0.9781	10	0.06236	T	0.91	-19.9278	6.9481	0.24530	0.4302:0.0:0.4471:0.1227	.	1559	Q13535	ATR_HUMAN	E	1559;1495	ENSP00000343741:D1559E;ENSP00000372581:D1495E	ENSP00000343741:D1559E	D	-	3	2	ATR	143713967	0.885000	0.30320	0.999000	0.59377	0.963000	0.63663	0.069000	0.14552	0.010000	0.14839	-0.691000	0.03719	GAC		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		28	51	0	0	0	1	0	28	51				
SATB2	23314	broad.mit.edu	37	2	200233398	200233398	+	Nonsense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:200233398A>T	ENST00000417098.1	-	6	1446	c.630T>A	c.(628-630)taT>taA	p.Y210*	SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Y151*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	210					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGGCATAATATGTGCTAT	0.318																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(451-453)taT>taA		SATB homeobox 2							97.0	93.0	95.0					2																	200233398		2203	4299	6502	SO:0001587	stop_gained	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200233398A>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.630T>A	2.37:g.200233398A>T	ENSP00000401112:p.Tyr210*					SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*	p.Y151*			Q9UPW6	SATB2_HUMAN			5	1918	-			210					A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	ENST00000417098.1	37	c.453T>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	A	38	7.201281	0.98132	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	.	.	.	5.85	0.96	0.19631	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0615	10.5876	0.45292	0.5073:0.0:0.4927:0.0	.	.	.	.	X	210;151;210;210	.	ENSP00000260926:Y210X	Y	-	3	2	SATB2	199941643	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.243000	0.51392	-0.057000	0.13199	0.402000	0.26972	TAT		0.318	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		31	41	0	0	0	1	0	31	41				
ADAMTS13	11093	broad.mit.edu	37	9	136323143	136323143	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:136323143C>T	ENST00000371929.3	+	28	4448	c.4004C>T	c.(4003-4005)gCa>gTa	p.A1335V	CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|CACFD1_ENST00000540581.1_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1335	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1335G(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCGCACGCACGGATTGCC	0.622																																						ENST00000371929.3																			1	Substitution - Missense(1)	p.A1335G(1)	lung(1)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4003-4005)gCa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							54.0	53.0	53.0					9																	136323143		2203	4299	6502	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136323143C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4004C>T	9.37:g.136323143C>T	ENSP00000360997:p.Ala1335Val					ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V	p.A1335V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	28	4448	+			1335			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.4004C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619173	0.28801	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.83	4.83	0.62350	CUB (1);	.	.	.	.	T	0.45994	0.1370	M	0.70595	2.14	0.80722	D	1	B;B;B	0.33637	0.011;0.42;0.42	B;B;B	0.30782	0.007;0.12;0.12	T	0.53578	-0.8419	9	0.87932	D	0	.	10.6959	0.45899	0.1906:0.8094:0.0:0.0	.	1335;1248;1279	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	V	1335;1279;1248;131	ENSP00000360997:A1335V;ENSP00000347927:A1279V;ENSP00000348997:A1248V;ENSP00000360978:A131V	ENSP00000347927:A1279V	A	+	2	0	ADAMTS13	135312964	0.752000	0.28338	0.898000	0.35279	0.602000	0.36980	2.680000	0.46918	2.222000	0.72286	0.655000	0.94253	GCA		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		12	27	0	0	0	1	0	12	27				
ABCA9	10350	broad.mit.edu	37	17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	rs144122311	byFrequency	TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1045					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)					GTAGTCACCAATGCTGCTCAT	0.403													A|||	2	0.000399361	0.0	0.0014	5008	,	,		21085	0.0		0.0	False		,,,				2504	0.001					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.(3133-3135)aTt>aCt		ATP-binding cassette, sub-family A (ABC1), member 9		A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	126.0	106.0	113.0		3134	4.0	0.4	17	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCA9	NM_080283.3	89	0,4,6499	GG,GA,AA		0.0233,0.0454,0.0308	benign	1045/1625	67008130	4,13002	2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67008130A>G	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.3134T>C	17.37:g.67008130A>G	ENSP00000342216:p.Ile1045Thr					ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T	p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			23	3345	-	Breast(10;1.47e-12)		1045					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3134T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280593	0.23392	4.54E-4	2.33E-4	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.35;-2.35	5.05	3.97	0.46021	.	0.145632	0.30593	N	0.009294	D	0.88735	0.6517	L	0.53617	1.68	0.28704	N	0.903906	P;B	0.43633	0.813;0.035	P;B	0.51453	0.67;0.144	T	0.83170	-0.0094	10	0.52906	T	0.07	.	6.9208	0.24387	0.8177:0.0:0.1823:0.0	.	1045;1045	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	1045;1028;1045;1040	ENSP00000342216:I1045T;ENSP00000359767:I1045T	ENSP00000342216:I1045T	I	-	2	0	ABCA9	64519725	0.976000	0.34144	0.414000	0.26521	0.130000	0.20726	2.844000	0.48246	0.875000	0.35847	-0.274000	0.10170	ATT		0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	63	0	0	0	1	0	3	63				
PRSS16	10279	broad.mit.edu	37	6	27218485	27218485	+	Missense_Mutation	SNP	G	G	A	rs372674948		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:27218485G>A	ENST00000230582.3	+	5	506	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	164					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTCTCTGCCCGCCTGGCACTT	0.632																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(490-492)cGc>cAc		protease, serine, 16 (thymus)		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	50.0	53.0		491	0.3	0.7	6		53	0,8600		0,0,4300	no	missense	PRSS16	NM_005865.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	164/515	27218485	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27218485G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.491G>A	6.37:g.27218485G>A	ENSP00000230582:p.Arg164His					PRSS16_ENST00000421826.2_Intron	p.R164H	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			5	506	+			164					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.491G>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	g	8.332	0.826680	0.16749	2.27E-4	0.0	ENSG00000112812	ENST00000230582;ENST00000343467	T	0.22336	1.96	4.4	0.323	0.15893	.	0.207947	0.51477	N	0.000088	T	0.04815	0.0130	L	0.32530	0.975	0.21416	N	0.999695	B;B;B	0.19200	0.001;0.0;0.034	B;B;B	0.15052	0.001;0.001;0.012	T	0.36261	-0.9755	10	0.45353	T	0.12	-8.3774	7.532	0.27689	0.5555:0.0:0.4445:0.0	.	55;164;164	Q7Z5N6;C9JI59;Q9NQE7	.;.;TSSP_HUMAN	H	164	ENSP00000230582:R164H	ENSP00000230582:R164H	R	+	2	0	PRSS16	27326464	0.240000	0.23847	0.738000	0.30950	0.285000	0.27093	0.712000	0.25779	-0.051000	0.13334	-0.964000	0.02622	CGC		0.632	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			3	42	0	0	0	1	0	3	42				
SMAD4	4089	broad.mit.edu	37	18	48604655	48604655	+	Missense_Mutation	SNP	G	G	A	rs121912578		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr18:48604655G>A	ENST00000342988.3	+	12	2015	c.1477G>A	c.(1477-1479)Gat>Aat	p.D493N	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.D493N|SMAD4_ENST00000588745.1_Missense_Mutation_p.D397N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	493	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		D -> H (in pancreatic carcinoma; dbSNP:rs28936392). {ECO:0000269|PubMed:8553070}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.D493N(2)|p.D493H(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AATTGGTGTTGATGACCTTCG	0.463																																						ENST00000342988.3																			41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)	p.0?(36)|p.?(2)|p.D493N(2)|p.D493H(1)	pancreas(28)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1477-1479)Gat>Aat		SMAD family member 4							121.0	102.0	109.0					18																	48604655		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604655G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1477G>A	18.37:g.48604655G>A	ENSP00000341551:p.Asp493Asn					SMAD4_ENST00000398417.2_Missense_Mutation_p.D493N|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.D397N	p.D493N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2015	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	493		D -> H (in pancreatic carcinoma; dbSNP:rs28936392).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1477G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601198	0.87055	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044013	0.85682	D	0.000000	D	0.98985	0.9654	M	0.81682	2.555	0.80722	D	1	P	0.48911	0.917	P	0.57846	0.828	D	0.99679	1.0998	10	0.66056	D	0.02	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	493	Q13485	SMAD4_HUMAN	N	493	ENSP00000341551:D493N;ENSP00000381452:D493N	ENSP00000341551:D493N	D	+	1	0	SMAD4	46858653	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.544000	0.98092	2.843000	0.97960	0.655000	0.94253	GAT		0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		21	10	0	0	0	1	0	21	10				
EVA1C	59271	broad.mit.edu	37	21	33887452	33887452	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:33887452C>T	ENST00000300255.2	+	8	1751	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Silent_p.N423N|EVA1C_ENST00000401402.3_Silent_p.N378N	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	426						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TATGGATGAACAGTGGTTTGG	0.463																																						ENST00000300255.2																			0											c.(1276-1278)aaC>aaT		eva-1 homolog C (C. elegans)							117.0	121.0	120.0					21																	33887452		2203	4300	6503	SO:0001819	synonymous_variant	59271							g.chr21:33887452C>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1278C>T	21.37:g.33887452C>T						EVA1C_ENST00000382699.3_Silent_p.N423N|EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000485488.1_3'UTR	p.N426N	NM_058187.3	NP_478067.2					8	1751	+								A6ND58|Q8IXZ0	Silent	SNP	ENST00000300255.2	37	c.1278C>T	CCDS13614.1																																																																																				0.463	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		5	89	0	0	0	1	0	5	89				
ZRANB3	84083	broad.mit.edu	37	2	135965229	135965229	+	Silent	SNP	C	C	T	rs202125924		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:135965229C>T	ENST00000264159.6	-	19	2900	c.2784G>A	c.(2782-2784)gcG>gcA	p.A928A	ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000401392.1_Silent_p.A926A|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	928					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCAAGAGTTCGCTTTACATG	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21659	0.0		0.0	False		,,,				2504	0.0					ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2776-2778)gcG>gcA		zinc finger, RAN-binding domain containing 3							209.0	194.0	199.0					2																	135965229		1926	4140	6066	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965229C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2784G>A	2.37:g.135965229C>T						ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.A928A	p.A926A			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2990	-			928					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.2778G>A	CCDS46419.1																																																																																				0.428	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		10	162	0	0	0	1	0	10	162				
ATM	472	broad.mit.edu	37	11	108175442	108175442	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:108175442T>A	ENST00000452508.2	+	38	5726	c.5537T>A	c.(5536-5538)aTt>aAt	p.I1846N	ATM_ENST00000278616.4_Missense_Mutation_p.I1846N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1846					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)	CCATACTTGATTCATGATATT	0.338			"""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.(5536-5538)aTt>aAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							74.0	71.0	72.0					11																	108175442		2201	4298	6499	SO:0001583	missense	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.chr11:108175442T>A	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.5537T>A	11.37:g.108175442T>A	ENSP00000388058:p.Ile1846Asn	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.I1846N	p.I1846N	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)	37	5922	+		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)	1846					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5537T>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207171	0.79127	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78816	-1.21;-1.21	5.52	5.52	0.82312	Armadillo-type fold (1);	0.153026	0.64402	D	0.000020	D	0.85379	0.5683	M	0.67953	2.075	0.42374	D	0.992465	D	0.69078	0.997	P	0.60682	0.878	D	0.87405	0.2372	10	0.87932	D	0	.	15.9357	0.79704	0.0:0.0:0.0:1.0	.	1846	Q13315	ATM_HUMAN	N	1846	ENSP00000278616:I1846N;ENSP00000388058:I1846N	ENSP00000278616:I1846N	I	+	2	0	ATM	107680652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.609000	0.74173	2.218000	0.71995	0.482000	0.46254	ATT		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	24	0	0	0	1	0	17	24				
EPOR	2057	broad.mit.edu	37	19	11489422	11489422	+	Missense_Mutation	SNP	G	G	A	rs139756642		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:11489422G>A	ENST00000222139.6	-	7	964	c.860C>T	c.(859-861)cCg>cTg	p.P287L	EPOR_ENST00000592375.2_Missense_Mutation_p.P287L	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	287					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)	CTCTGGGCTCGGGATGCCAGG	0.522																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(859-861)cCg>cTg		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	G	LEU/PRO	0,4406		0,0,2203	91.0	85.0	87.0		860	5.4	0.9	19	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPOR	NM_000121.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	287/509	11489422	1,13005	2203	4300	6503	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489422G>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.860C>T	19.37:g.11489422G>A	ENSP00000222139:p.Pro287Leu					EPOR_ENST00000222139.6_Missense_Mutation_p.P287L	p.P287L			P19235	EPOR_HUMAN			7	964	-			287					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.860C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831041	0.71258	0.0	1.16E-4	ENSG00000187266	ENST00000222139	D	0.99716	-6.51	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97366	0.9973	10	0.87932	D	0	-12.8703	17.9938	0.89176	0.0:0.0:1.0:0.0	.	287	P19235	EPOR_HUMAN	L	287	ENSP00000222139:P287L	ENSP00000222139:P287L	P	-	2	0	EPOR	11350422	1.000000	0.71417	0.934000	0.37439	0.420000	0.31355	6.982000	0.76173	2.552000	0.86080	0.655000	0.94253	CCG		0.522	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			23	33	0	0	0	1	0	23	33				
TTN	7273	broad.mit.edu	37	2	179594623	179594623	+	Missense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:179594623A>T	ENST00000591111.1	-	61	17630	c.17406T>A	c.(17404-17406)aaT>aaA	p.N5802K	TTN_ENST00000342992.6_Missense_Mutation_p.N4875K|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.N6119K			Q8WZ42	TITIN_HUMAN	titin	12604	Ig-like 39.				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)			TTGACTGTCCATTCCTCAGCA	0.383																																						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.(18355-18357)aaT>aaA		titin							48.0	47.0	47.0					2																	179594623		1881	4117	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594623A>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.17406T>A	2.37:g.179594623A>T	ENSP00000465570:p.Asn5802Lys					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5802K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K	p.N6119K	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)		63	18581	-			5802			Ig-like 42.		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.18357T>A		.	.	.	.	.	.	.	.	.	.	A	12.15	1.850156	0.32699	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.92	-3.05	0.05396	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32102	0.0818	N	0.03253	-0.375	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02661	-1.1127	9	0.87932	D	0	.	6.2359	0.20762	0.3273:0.0:0.4195:0.2532	.	5802	Q8WZ42	TITIN_HUMAN	K	4875	ENSP00000343764:N4875K	ENSP00000343764:N4875K	N	-	3	2	TTN	179302868	0.968000	0.33430	0.993000	0.49108	0.990000	0.78478	0.148000	0.16224	-0.312000	0.08741	-0.290000	0.09829	AAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	9	0	0	0	1	0	10	9				
SLC37A4	2542	broad.mit.edu	37	11	118899962	118899962	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:118899962C>T	ENST00000545985.1	-	3	874	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	40					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGATCTCTTCCACCAATGAT	0.507																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(118-120)Gaa>Aaa		solute carrier family 37 (glucose-6-phosphate transporter), member 4							90.0	89.0	89.0					11																	118899962		2059	4209	6268	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118899962C>T	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.118G>A	11.37:g.118899962C>T	ENSP00000475241:p.Glu40Lys					SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron	p.E40K	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	3	874	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	40					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.118G>A																																																																																					0.507	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		9	15	0	0	0	1	0	9	15				
PKHD1L1	93035	broad.mit.edu	37	8	110393743	110393743	+	Splice_Site	SNP	G	G	A	rs368264006		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:110393743G>A	ENST00000378402.5	+	3	412	c.308G>A	c.(307-309)aGa>aAa	p.R103K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	103	IPT/TIG 1.				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)			TGCTATACTAGGTCTGTTTTA	0.279										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.e3+1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							36.0	35.0	36.0					8																	110393743		1798	4054	5852	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110393743G>A	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.308+1G>A	8.37:g.110393743G>A		HNSCC(38;0.096)					p.R103_splice	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		3	412	+			103			IPT/TIG 1.		Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.308_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948854	0.92660	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	6.16	6.16	0.99307	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.80847	2.515	0.46149	D	0.998894	D	0.67145	0.996	D	0.65684	0.937	D	0.85943	0.1459	10	0.51188	T	0.08	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	103	Q86WI1	PKHL1_HUMAN	K	103	ENSP00000367655:R103K	ENSP00000367655:R103K	R	+	2	0	PKHD1L1	110462919	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.746000	0.74866	2.937000	0.99478	0.650000	0.86243	AGA		0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Missense_Mutation	10	1	0	0	0	1	0	10	1				
CSMD3	114788	broad.mit.edu	37	8	113358324	113358324	+	Splice_Site	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:113358324A>G	ENST00000297405.5	-	41	6687		c.e41+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TAATACACATACCAAAACCTA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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.e41+1		CUB and Sushi multiple domains 3							94.0	99.0	97.0					8																	113358324		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113358324A>G	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.6442+1T>C	8.37:g.113358324A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6687	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385420	0.82792	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5781	0.76408	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113427500	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.097000	0.94193	2.260000	0.74910	0.528000	0.53228	.		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	27	102	0	0	0	1	0	27	102				
LRP4	4038	broad.mit.edu	37	11	46898339	46898339	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:46898339C>T	ENST00000378623.1	-	24	3562	c.3320G>A	c.(3319-3321)cGt>cAt	p.R1107H	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1107					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGATTGGCACGACTGATCCT	0.567																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3319-3321)cGt>cAt		low density lipoprotein receptor-related protein 4							197.0	156.0	170.0					11																	46898339		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898339C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3320G>A	11.37:g.46898339C>T	ENSP00000367888:p.Arg1107His						p.R1107H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	24	3562	-			1107					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3320G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679918	0.88542	.	.	ENSG00000134569	ENST00000378623	D	0.96300	-3.97	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98817	0.9601	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99308	1.0903	10	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	1107	O75096	LRP4_HUMAN	H	1107	ENSP00000367888:R1107H	ENSP00000367888:R1107H	R	-	2	0	LRP4	46854915	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.588000	0.82629	2.725000	0.93324	0.655000	0.94253	CGT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	115	0	0	0	1	0	8	115				
ZNF572	137209	broad.mit.edu	37	8	125989773	125989773	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:125989773C>T	ENST00000319286.5	+	3	1417	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	421					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAAAACTTTCAGTCAGAGTT	0.428										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(1261-1263)ttC>ttT		zinc finger protein 572							75.0	75.0	75.0					8																	125989773		2203	4300	6503	SO:0001819	synonymous_variant	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989773C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1263C>T	8.37:g.125989773C>T		HNSCC(60;0.17)					p.F421F	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1417	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		421					A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	c.1263C>T	CCDS6354.1																																																																																				0.428	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		38	107	0	0	0	1	0	38	107				
ZNF285	26974	broad.mit.edu	37	19	44891888	44891888	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:44891888C>A	ENST00000330997.4	-	4	583	c.519G>T	c.(517-519)gaG>gaT	p.E173D	ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	173					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTACAATTTCTCTTCCATGT	0.478																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(517-519)gaG>gaT		zinc finger protein 285							101.0	101.0	101.0					19																	44891888		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891888C>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.519G>T	19.37:g.44891888C>A	ENSP00000333595:p.Glu173Asp					ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D|ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron	p.E173D	NM_152354.3	NP_689567.3					4	583	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.519G>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154737	0.21371	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06449	3.3	3.11	2.05	0.26809	.	.	.	.	.	T	0.06781	0.0173	L	0.56199	1.76	0.23156	N	0.998201	P;P	0.46784	0.884;0.884	B;B	0.37198	0.243;0.243	T	0.28964	-1.0027	9	0.48119	T	0.1	.	9.0135	0.36155	0.0:0.8829:0.0:0.1171	.	197;173	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	D	196;173	ENSP00000333595:E173D	ENSP00000333595:E173D	E	-	3	2	ZNF285	49583728	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	-0.650000	0.05378	0.639000	0.30564	0.454000	0.30748	GAG		0.478	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		5	132	1	0	0.184627	1	0.184627	5	132				
HSPG2	3339	broad.mit.edu	37	1	22204695	22204695	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:22204695T>C	ENST00000374695.3	-	21	2748	c.2669A>G	c.(2668-2670)gAg>gGg	p.E890G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	890	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.			EA -> RT (in Ref. 6; AAB21121). {ECO:0000305}.	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)	GCGGCAGGCCTCCCCGGAGGT	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.(2668-2670)gAg>gGg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						30.0	31.0	31.0					1																	22204695		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22204695T>C	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.2669A>G	1.37:g.22204695T>C	ENSP00000363827:p.Glu890Gly						p.E890G	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)	21	2748	-		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)	890	EA -> RT (in Ref. 6; AAB21121).		Laminin EGF-like 4; truncated.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2669A>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.353835	0.41700	.	.	ENSG00000142798	ENST00000374695	T	0.62941	-0.01	5.59	5.59	0.84812	EGF-like, laminin (2);	0.182306	0.26166	N	0.025959	T	0.29684	0.0741	N	0.00686	-1.255	0.32344	N	0.559342	B	0.06786	0.001	B	0.08055	0.003	T	0.34079	-0.9843	10	0.24483	T	0.36	.	12.1784	0.54198	0.0:0.0:0.0:1.0	.	890	P98160	PGBM_HUMAN	G	890	ENSP00000363827:E890G	ENSP00000363827:E890G	E	-	2	0	HSPG2	22077282	0.263000	0.24083	0.938000	0.37757	0.776000	0.43924	1.475000	0.35409	2.120000	0.65058	0.460000	0.39030	GAG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	11	0	0	0	1	0	4	11				
WDR49	151790	broad.mit.edu	37	3	167249006	167249006	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:167249006G>C	ENST00000308378.3	-	9	1364	c.1059C>G	c.(1057-1059)gaC>gaG	p.D353E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E|WDR49_ENST00000453925.2_Missense_Mutation_p.D417E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGTAGAATGGTCTGCCATGG	0.438																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1057-1059)gaC>gaG		WD repeat domain 49							84.0	89.0	87.0					3																	167249006		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167249006G>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1059C>G	3.37:g.167249006G>C	ENSP00000311343:p.Asp353Glu					WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E|WDR49_ENST00000479765.1_Intron	p.D353E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			9	1364	-			353					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1059C>G	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.817|2.817	-0.245747|-0.245747	0.05906|0.05906	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.53206|.	0.63;1.91;1.06|.	5.68|5.68	-4.84|-4.84	0.03151|0.03151	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.811986|.	0.11253|.	N|.	0.583404|.	T|T	0.23806|0.23806	0.0576|0.0576	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.34477|0.34477	-0.9827|-0.9827	10|5	0.13108|.	T|.	0.6|.	.|.	0.6201|0.6201	0.00776|0.00776	0.3271:0.2923:0.1652:0.2154|0.3271:0.2923:0.1652:0.2154	.|.	417;353|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	E|S	353;178;417|429	ENSP00000311343:D353E;ENSP00000420508:D178E;ENSP00000410863:D417E|.	ENSP00000311343:D353E|.	D|T	-|-	3|2	2|0	WDR49|WDR49	168731700|168731700	0.006000|0.006000	0.16342|0.16342	0.004000|0.004000	0.12327|0.12327	0.007000|0.007000	0.05969|0.05969	-0.678000|-0.678000	0.05209|0.05209	-0.476000|-0.476000	0.06842|0.06842	0.650000|0.650000	0.86243|0.86243	GAC|ACC		0.438	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		4	76	0	0	0	1	0	4	76				
ITPR3	3710	broad.mit.edu	37	6	33638125	33638125	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:33638125G>A	ENST00000374316.5	+	20	3273	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R738H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	738					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)	CTCTTTGCCCGCATGTGCTTG	0.607																																						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.(2212-2214)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							92.0	86.0	88.0					6																	33638125		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.chr6:33638125G>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.2213G>A	6.37:g.33638125G>A	ENSP00000363435:p.Arg738His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R738H	p.R738H			Q14573	ITPR3_HUMAN			20	3273	+			738					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2213G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225756	0.95173	.	.	ENSG00000096433	ENST00000374316	D	0.91843	-2.92	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.92971	0.7763	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	D	0.93363	0.6728	10	0.52906	T	0.07	-25.4105	17.8678	0.88801	0.0:0.0:1.0:0.0	.	738	Q14573	ITPR3_HUMAN	H	738	ENSP00000363435:R738H	ENSP00000363435:R738H	R	+	2	0	ITPR3	33746103	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.748000	0.98867	2.209000	0.71365	0.563000	0.77884	CGC		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		3	58	0	0	0	1	0	3	58				
ZNF548	147694	broad.mit.edu	37	19	57908537	57908537	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:57908537C>T	ENST00000366197.5	+	2	387	c.137C>T	c.(136-138)tCa>tTa	p.S46L	AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	46	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)	1		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;0.026)		CTTTTGTCCTCACTAGGTAAG	0.542																																						ENST00000366197.5																			0				breast(1)	1						c.(136-138)tCa>tTa		zinc finger protein 548							429.0	387.0	401.0					19																	57908537		2203	4300	6503	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908537C>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.137C>T	19.37:g.57908537C>T	ENSP00000379482:p.Ser46Leu					AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000600421.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	p.S46L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	387	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	46			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.137C>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460892	0.63513	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.03004	4.08;4.08	2.55	1.48	0.22813	Krueppel-associated box (4);	.	.	.	.	T	0.18341	0.0440	M	0.87758	2.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.02179	-1.1200	9	0.59425	D	0.04	.	9.3783	0.38297	0.0:0.7785:0.2215:0.0	.	58;46	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	58;46	ENSP00000337555:S58L;ENSP00000379482:S46L	ENSP00000337555:S58L	S	+	2	0	ZNF548	62600349	0.000000	0.05858	0.003000	0.11579	0.622000	0.37654	0.211000	0.17474	0.638000	0.30545	0.563000	0.77884	TCA		0.542	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		129	219	0	0	0	1	0	129	219				
TMTC4	84899	broad.mit.edu	37	13	101257321	101257321	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr13:101257321G>A	ENST00000376234.3	-	18	2342	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M	TMTC4_ENST00000328767.5_Missense_Mutation_p.T607M|TMTC4_ENST00000342624.5_Missense_Mutation_p.T737M	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	718						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCTGATGCCGTGGGGTCAAG	0.423																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2209-2211)aCg>aTg		transmembrane and tetratricopeptide repeat containing 4							277.0	248.0	258.0					13																	101257321		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101257321G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2153C>T	13.37:g.101257321G>A	ENSP00000365408:p.Thr718Met					TMTC4_ENST00000376234.3_Missense_Mutation_p.T718M|TMTC4_ENST00000328767.5_Missense_Mutation_p.T607M	p.T737M	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			19	2468	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		718					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.2210C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	6.768	0.510587	0.12883	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.55760	0.5;0.5;0.5	6.15	-0.407	0.12385	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.910885	0.09740	N	0.762053	T	0.36524	0.0970	N	0.25485	0.75	0.09310	N	1	B;B;B	0.21147	0.052;0.001;0.015	B;B;B	0.17098	0.009;0.005;0.017	T	0.27400	-1.0075	10	0.46703	T	0.11	.	7.943	0.29969	0.3115:0.2099:0.4786:0.0	.	607;718;737	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	M	718;737;607	ENSP00000365408:T718M;ENSP00000343871:T737M;ENSP00000365409:T607M	ENSP00000365409:T607M	T	-	2	0	TMTC4	100055322	0.000000	0.05858	0.001000	0.08648	0.315000	0.28087	0.792000	0.26929	-0.045000	0.13468	-0.134000	0.14843	ACG		0.423	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		8	165	0	0	0	1	0	8	165				
LGR6	59352	broad.mit.edu	37	1	202288000	202288000	+	Missense_Mutation	SNP	G	G	A	rs144773392		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:202288000G>A	ENST00000367278.3	+	18	2658	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	LGR6_ENST00000439764.2_Missense_Mutation_p.G718R|LGR6_ENST00000255432.7_Missense_Mutation_p.G805R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	857					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						TGCTGCGGCCGGGGAGCTGGA	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18002	0.0		0.0	False		,,,				2504	0.0					ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2569-2571)Ggg>Agg		leucine-rich repeat containing G protein-coupled receptor 6		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	48.0	58.0	55.0		2569,2152,2413	-8.8	0.0	1	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	125,125,125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	857/968,718/829,805/916	202288000	2,13004	2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288000G>A	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.2569G>A	1.37:g.202288000G>A	ENSP00000356247:p.Gly857Arg					LGR6_ENST00000255432.7_Missense_Mutation_p.G805R|LGR6_ENST00000439764.2_Missense_Mutation_p.G718R	p.G857R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2658	+			857					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2569G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	5.335	0.247066	0.10130	0.0	2.33E-4	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.59502	0.26;0.68;0.72	4.42	-8.84	0.00803	.	1.090610	0.06882	N	0.802755	T	0.31167	0.0788	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.11421	-1.0588	10	0.27082	T	0.32	.	2.292	0.04141	0.3425:0.1977:0.3678:0.0921	.	718;805;857	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	R	857;805;718	ENSP00000356247:G857R;ENSP00000255432:G805R;ENSP00000387869:G718R	ENSP00000255432:G805R	G	+	1	0	LGR6	200554623	0.012000	0.17670	0.000000	0.03702	0.221000	0.24807	1.210000	0.32370	-2.293000	0.00664	-0.350000	0.07774	GGG		0.642	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		31	61	0	0	0	1	0	31	61				
MAP3K9	4293	broad.mit.edu	37	14	71267477	71267477	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr14:71267477C>T	ENST00000554752.2	-	2	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCAATTCACCAGGATGTCT	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(727-729)Gtg>Atg		mitogen-activated protein kinase kinase kinase 9							104.0	95.0	98.0					14																	71267477		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267477C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.727G>A	14.37:g.71267477C>T	ENSP00000451612:p.Val243Met					MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M|MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M	p.V243M			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	726	-			243			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.727G>A		.	.	.	.	.	.	.	.	.	.	C	23.4	4.407374	0.83230	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.83914	-1.78;-1.78	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (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	0.88070	0.6338	L	0.37897	1.145	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.99	D	0.87092	0.2173	10	0.48119	T	0.1	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	243;243	P80192;P80192-4	M3K9_HUMAN;.	M	243	ENSP00000451612:V243M;ENSP00000370649:V243M	ENSP00000005198:V243M	V	-	1	0	MAP3K9	70337230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.878000	0.69682	2.814000	0.96858	0.655000	0.94253	GTG		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			31	34	0	0	0	1	0	31	34				
ADAMTS5	11096	broad.mit.edu	37	21	28338099	28338099	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:28338099C>T	ENST00000284987.5	-	1	733	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	204					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCGCGCGGCGGCAGGGCCT	0.716																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(610-612)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 5							10.0	13.0	12.0					21																	28338099		2182	4263	6445	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338099C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.612G>A	21.37:g.28338099C>T							p.P204P	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	733	-			204					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.612G>A	CCDS13579.1																																																																																				0.716	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	6	0	0	0	1	0	4	6				
IRF4	3662	broad.mit.edu	37	6	397164	397164	+	Silent	SNP	G	G	A	rs200431511		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:397164G>A	ENST00000380956.4	+	5	675	c.549G>A	c.(547-549)ccG>ccA	p.P183P	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	183					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACTACGTCCCGGATCAGCCAC	0.562			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(547-549)ccG>ccA		interferon regulatory factor 4		G	,	1,4405	2.1+/-5.4	0,1,2202	108.0	113.0	111.0		546,549	-11.0	0.3	6		111	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	IRF4	NM_001195286.1,NM_002460.3	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	182/451,183/452	397164	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397164G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.549G>A	6.37:g.397164G>A						IRF4_ENST00000495137.1_3'UTR	p.P183P	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	675	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	183					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.549G>A	CCDS4469.1																																																																																				0.562	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			50	60	0	0	0	1	0	50	60				
ABHD8	79575	broad.mit.edu	37	19	17405642	17405642	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:17405642G>A	ENST00000247706.3	-	3	1013	c.774C>T	c.(772-774)tgC>tgT	p.C258C	MRPL34_ENST00000600434.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	258							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCAGGAATGTGCAGAAAGAGA	0.532																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(772-774)tgC>tgT		abhydrolase domain containing 8							66.0	54.0	58.0					19																	17405642		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405642G>A	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.774C>T	19.37:g.17405642G>A						MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.C258C	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			3	1013	-			258					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.774C>T	CCDS12355.1																																																																																				0.532	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	21	0	0	0	1	0	3	21				
TAF2	6873	broad.mit.edu	37	8	120756627	120756627	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:120756627T>C	ENST00000378164.2	-	24	3413	c.3115A>G	c.(3115-3117)Agt>Ggt	p.S1039G	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1039					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTTGAGAACTGGAAAACTAA	0.393																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3115-3117)Agt>Ggt		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							122.0	121.0	121.0					8																	120756627		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120756627T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3115A>G	8.37:g.120756627T>C	ENSP00000367406:p.Ser1039Gly						p.S1039G	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	3413	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1039					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3115A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831226	0.50845	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.33865	2.5;1.39	5.49	5.49	0.81192	.	0.300596	0.40640	N	0.001051	T	0.24392	0.0591	N	0.14661	0.345	0.36525	D	0.870406	B	0.06786	0.001	B	0.04013	0.001	T	0.12915	-1.0529	10	0.30854	T	0.27	-6.9258	15.6034	0.76642	0.0:0.0:0.0:1.0	.	1039	Q6P1X5	TAF2_HUMAN	G	1039;215	ENSP00000367406:S1039G;ENSP00000436750:S215G	ENSP00000367406:S1039G	S	-	1	0	TAF2	120825808	1.000000	0.71417	0.974000	0.42286	0.769000	0.43574	5.960000	0.70348	2.096000	0.63516	0.383000	0.25322	AGT		0.393	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	193	0	0	0	1	0	5	193				
TRIM3	10612	broad.mit.edu	37	11	6479027	6479027	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:6479027G>A	ENST00000525074.1	-	4	808	c.414C>T	c.(412-414)tgC>tgT	p.C138C	TRIM3_ENST00000345851.3_Silent_p.C138C|TRIM3_ENST00000536344.1_Silent_p.C19C|TRIM3_ENST00000537602.1_Silent_p.C138C|TRIM3_ENST00000359518.3_Silent_p.C138C|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	138					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)		CCCCGGCGCGGCACTCACCAC	0.612																																					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.(412-414)tgC>tgT		tripartite motif containing 3							90.0	80.0	83.0					11																	6479027		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479027G>A	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.414C>T	11.37:g.6479027G>A						TRIM3_ENST00000359518.3_Silent_p.C138C|TRIM3_ENST00000345851.3_Silent_p.C138C|TRIM3_ENST00000537602.1_Silent_p.C138C|TRIM3_ENST00000536344.1_Silent_p.C19C	p.C138C	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)	4	808	-		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)	138					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.414C>T	CCDS7764.1																																																																																				0.612	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		4	76	0	0	0	1	0	4	76				
CCDC186	55088	broad.mit.edu	37	10	115922869	115922869	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:115922869T>A	ENST00000369287.3	-	2	425	c.159A>T	c.(157-159)ttA>ttT	p.L53F	C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		53										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TAGGTTGACATAAAGTTTTAT	0.363																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(157-159)ttA>ttT		chromosome 10 open reading frame 118							110.0	111.0	111.0					10																	115922869		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115922869T>A																												ENST00000369287.3:c.159A>T	10.37:g.115922869T>A	ENSP00000358293:p.Leu53Phe					C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	2	425	-		Colorectal(252;0.172)|Breast(234;0.188)	53					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.159A>T	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	8.365	0.834073	0.16820	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.33216	1.85;1.42;1.42	5.65	3.29	0.37713	.	1.347050	0.04857	N	0.443320	T	0.28134	0.0694	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26018	-1.0115	10	0.52906	T	0.07	.	5.0395	0.14452	0.3505:0.0795:0.0:0.5701	.	53	Q7Z3E2	CJ118_HUMAN	F	53;159;53;53	ENSP00000358293:L53F;ENSP00000358292:L53F;ENSP00000358291:L53F	ENSP00000358291:L53F	L	-	3	2	C10orf118	115912859	0.000000	0.05858	0.619000	0.29118	0.290000	0.27261	0.174000	0.16743	0.419000	0.25927	0.529000	0.55759	TTA		0.363	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			45	69	0	0	0	1	0	45	69				
CD40LG	959	broad.mit.edu	37	X	135730414	135730414	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:135730414G>A	ENST00000370629.2	+	1	63	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CD40LG_ENST00000370628.2_Missense_Mutation_p.E3K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	3					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.E3K(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CAGCATGATCGAAACATACAA	0.433									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			1	Substitution - Missense(1)	p.E3K(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(7-9)Gaa>Aaa		CD40 ligand	Atorvastatin(DB01076)						137.0	124.0	128.0					X																	135730414		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135730414G>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.7G>A	X.37:g.135730414G>A	ENSP00000359663:p.Glu3Lys					CD40LG_ENST00000370628.2_Missense_Mutation_p.E3K	p.E3K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			1	63	+	Acute lymphoblastic leukemia(192;0.000127)		3						Missense_Mutation	SNP	ENST00000370629.2	37	c.7G>A	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.154523	0.78114	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.77489	-1.1;-1.1	5.8	5.8	0.92144	.	0.344005	0.31859	N	0.006959	T	0.75287	0.3829	L	0.34521	1.04	0.34421	D	0.697487	D;D	0.69078	0.991;0.997	P;P	0.49752	0.468;0.621	D	0.83885	0.0281	10	0.87932	D	0	0.2024	14.2294	0.65882	0.0:0.0:1.0:0.0	.	3;3	Q3L8U2;P29965	.;CD40L_HUMAN	K	3	ENSP00000359663:E3K;ENSP00000359662:E3K	ENSP00000359662:E3K	E	+	1	0	CD40LG	135558080	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.704000	0.68347	2.434000	0.82447	0.597000	0.82753	GAA		0.433	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		48	11	0	0	0	1	0	48	11				
RCC2	55920	broad.mit.edu	37	1	17752171	17752171	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:17752171C>T	ENST00000375436.4	-	4	576	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RCC2_ENST00000375433.3_Missense_Mutation_p.R130H	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	130					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|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;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACCGAGATTGCGGTAAGCAGC	0.612																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(388-390)cGc>cAc		regulator of chromosome condensation 2							27.0	29.0	29.0					1																	17752171		2203	4297	6500	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17752171C>T		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.389G>A	1.37:g.17752171C>T	ENSP00000364585:p.Arg130His					RCC2_ENST00000375433.3_Missense_Mutation_p.R130H	p.R130H	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	4	576	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	130					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.389G>A	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384703	0.82792	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.37584	1.19;1.19	5.51	5.51	0.81932	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.44542	1.39	0.58432	D	0.999999	D	0.71674	0.998	P	0.55667	0.781	T	0.10567	-1.0624	10	0.27082	T	0.32	-20.4314	18.3426	0.90311	0.0:1.0:0.0:0.0	.	130	Q9P258	RCC2_HUMAN	H	130	ENSP00000364585:R130H;ENSP00000364582:R130H	ENSP00000364582:R130H	R	-	2	0	RCC2	17624758	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.995000	0.70631	2.756000	0.94617	0.655000	0.94253	CGC		0.612	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		3	17	0	0	0	1	0	3	17				
LIG1	3978	broad.mit.edu	37	19	48636261	48636261	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:48636261T>C	ENST00000263274.7	-	18	2122	c.1703A>G	c.(1702-1704)aAa>aGa	p.K568R	LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	568					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)	CCCGTCATATTTGTATTCGCA	0.572								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.(1702-1704)aAa>aGa	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						183.0	168.0	173.0					19																	48636261		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.chr19:48636261T>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.1703A>G	19.37:g.48636261T>C	ENSP00000263274:p.Lys568Arg					LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	p.K568R	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)	18	2122	-		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)	568					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1703A>G	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818260	0.90790	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	D;D;D	0.97665	-4.48;-4.48;-4.48	5.48	5.48	0.80851	DNA ligase, ATP-dependent, central (1);DNA ligase, ATP-dependent, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	H	0.99952	5.035	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	0.97955	1.0334	10	0.87932	D	0	-20.0359	13.8169	0.63297	0.0:0.0:0.0:1.0	.	537;500;568	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	R	568;599;537;500	ENSP00000263274:K568R;ENSP00000442841:K537R;ENSP00000441531:K500R	ENSP00000263274:K568R	K	-	2	0	LIG1	53328073	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	6.890000	0.75633	2.215000	0.71742	0.533000	0.62120	AAA		0.572	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		7	197	0	0	0	1	0	7	197				
JMJD1C	221037	broad.mit.edu	37	10	64958388	64958388	+	Silent	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:64958388A>G	ENST00000399262.2	-	12	5594	c.5376T>C	c.(5374-5376)ttT>ttC	p.F1792F	JMJD1C_ENST00000402544.1_Silent_p.F1573F|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.F1610F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1792					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATCATCTTCAAAATTTTCAT	0.323																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5374-5376)ttT>ttC		jumonji domain containing 1C							119.0	115.0	116.0					10																	64958388		1825	4071	5896	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64958388A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5376T>C	10.37:g.64958388A>G						JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Silent_p.F1573F|JMJD1C_ENST00000542921.1_Silent_p.F1610F	p.F1792F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			12	5594	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1792					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.5376T>C	CCDS41532.1																																																																																				0.323	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		5	119	0	0	0	1	0	5	119				
MARK1	4139	broad.mit.edu	37	1	220792011	220792011	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:220792011C>G	ENST00000366917.4	+	9	1089	c.823C>G	c.(823-825)Cgt>Ggt	p.R275G	MARK1_ENST00000366918.4_Missense_Mutation_p.R253G|MARK1_ENST00000402574.1_Missense_Mutation_p.R140G					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGGGAAGTACCGTATTCCCTT	0.353																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(418-420)Cgt>Ggt		MAP/microtubule affinity-regulating kinase 1							98.0	100.0	99.0					1																	220792011		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220792011C>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.823C>G	1.37:g.220792011C>G	ENSP00000355884:p.Arg275Gly					MARK1_ENST00000366917.4_Missense_Mutation_p.R275G|MARK1_ENST00000366918.4_Missense_Mutation_p.R253G	p.R140G	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1420	+			275			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.418C>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869967	0.51588	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.66099	-0.19;-0.19;-0.19	5.85	3.97	0.46021	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	0.70141	0.3190	L	0.35249	1.045	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.967;0.947	D;D;P;P	0.78314	0.99;0.991;0.882;0.831	T	0.73232	-0.4048	10	0.87932	D	0	.	15.405	0.74871	0.2543:0.7457:0.0:0.0	.	275;140;275;253	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	G	140;253;275	ENSP00000386017:R140G;ENSP00000355885:R253G;ENSP00000355884:R275G	ENSP00000355884:R275G	R	+	1	0	MARK1	218858634	1.000000	0.71417	0.986000	0.45419	0.229000	0.25112	5.883000	0.69721	0.796000	0.33947	-0.169000	0.13324	CGT		0.353	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			4	111	0	0	0	1	0	4	111				
AC007563.5	0	broad.mit.edu	37	2	217650442	217650443	+	RNA	INS	-	-	T	rs371972413		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:217650442_217650443insT	ENST00000447289.1	+	0	510																											gcccggcTCACTTTTTTTTTTT	0.436																																						ENST00000447289.1																			0																																																			0							g.chr2:217650442_217650443insT																													2.37:g.217650453_217650453dupT														0	510	+									RNA	INS	ENST00000447289.1	37																																																																																						0.436	AC007563.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000339423.2			4	3						4	3	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634331	32634333	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:32634331_32634333delAGA	ENST00000242310.4	-	1	1334_1336	c.1245_1247delTCT	c.(1243-1248)cttctg>ctg	p.415_416LL>L	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	415					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)		TTCGTCAGCCAGAAGATCAGTGC	0.433																																						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.(1243-1248)ctg>ct		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like																																				SO:0001651	inframe_deletion	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.chr9:32634331_32634333delAGA	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.1245_1247delTCT	9.37:g.32634334_32634336delAGA	ENSP00000418379:p.Leu416del					RP11-555J4.4_ENST00000430787.1_RNA	p.LL415del	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1334_1336	-			415					Q0VG57	In_Frame_Del	DEL	ENST00000242310.4	37	c.1245_1247delTCT	CCDS35003.1																																																																																				0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	316						7	316	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			0							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA						SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA								0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			43	81						43	81	---	---	---	---
PTBP1	5725	broad.mit.edu	37	19	806459	806461	+	In_Frame_Del	DEL	CGG	CGG	-	rs375905582		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:806459_806461delCGG	ENST00000349038.4	+	9	1017_1019	c.944_946delCGG	c.(943-948)tcggcg>tcg	p.A323del	PTBP1_ENST00000356948.6_In_Frame_Del_p.A349del|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_In_Frame_Del_p.A342del|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	323	Poly-Ala.				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)		GCCATCCCCTCGGCGGCGGCGGC	0.7																																						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.(1021-1026)tcg>t		polypyrimidine tract binding protein 1																																				SO:0001651	inframe_deletion	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.chr19:806459_806461delCGG	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.944_946delCGG	19.37:g.806468_806470delCGG	ENSP00000014112:p.Ala323del					PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_In_Frame_Del_p.SA334del|PTBP1_ENST00000349038.4_In_Frame_Del_p.SA315del	p.SA341del	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)	10	1445_1447	+		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)	315			RRM 3.		Q9BUQ0	In_Frame_Del	DEL	ENST00000349038.4	37	c.1022_1024delCGG	CCDS32859.1																																																																																				0.700	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			2	4						2	4	---	---	---	---
SLC17A9	63910	broad.mit.edu	37	20	61595020	61595020	+	Frame_Shift_Del	DEL	C	C	-	rs538543221		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr20:61595020delC	ENST00000370351.4	+	7	941	c.810delC	c.(808-810)ttcfs	p.F270fs	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Frame_Shift_Del_p.F264fs	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	270					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGAGACCTTCCCCGACGCCA	0.667																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(790-792)ttfs		solute carrier family 17 (vesicular nucleotide transporter), member 9							41.0	44.0	43.0					20																	61595020		2115	4221	6336	SO:0001589	frameshift_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61595020delC	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.810delC	20.37:g.61595020delC	ENSP00000359376:p.Phe270fs					SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.F270fs|SLC17A9_ENST00000488738.1_3'UTR	p.F264fs			Q9BYT1	S17A9_HUMAN			8	996	+			270					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Frame_Shift_Del	DEL	ENST00000370351.4	37	c.792delC	CCDS42901.1																																																																																				0.667	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		2	4						2	4	---	---	---	---
