#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
VWA3B	200403	broad.mit.edu	37	2	98750306	98750306	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:98750306A>G	ENST00000477737.1	+	7	1096	c.892A>G	c.(892-894)Aga>Gga	p.R298G	VWA3B_ENST00000435344.1_Missense_Mutation_p.R298G|VWA3B_ENST00000451075.2_Missense_Mutation_p.R148G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	298										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTTGCCGAGAGAACAGAGTG	0.473																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(892-894)Aga>Gga		von Willebrand factor A domain containing 3B							290.0	275.0	280.0					2																	98750306		2072	4220	6292	SO:0001583	missense	200403							g.chr2:98750306A>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.892A>G	2.37:g.98750306A>G	ENSP00000417955:p.Arg298Gly					VWA3B_ENST00000451075.2_Missense_Mutation_p.R148G|VWA3B_ENST00000435344.1_Missense_Mutation_p.R298G	p.R298G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1096	+			298					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.892A>G	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.954602	0.34471	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.15372	7.41;7.41;2.43	5.66	4.48	0.54585	.	0.084795	0.48286	D	0.000192	T	0.31638	0.0803	L	0.54323	1.7	0.27265	N	0.958533	D;D;D	0.65815	0.965;0.995;0.99	P;P;P	0.61658	0.468;0.718;0.892	T	0.08827	-1.0703	10	0.72032	D	0.01	.	10.6797	0.45807	0.8396:0.1604:0.0:0.0	.	148;298;298	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	G	298;298;148	ENSP00000401959:R298G;ENSP00000417955:R298G;ENSP00000389463:R148G	ENSP00000411168:R298G	R	+	1	2	VWA3B	98116738	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	2.731000	0.47343	0.937000	0.37394	0.533000	0.62120	AGA		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	323	0	0	0	1	0	5	323				
AGL	178	broad.mit.edu	37	1	100366293	100366293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:100366293G>A	ENST00000294724.4	+	26	3942	c.3464G>A	c.(3463-3465)tGg>tAg	p.W1155*	AGL_ENST00000361522.4_Nonsense_Mutation_p.W1138*|AGL_ENST00000370163.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361302.3_Nonsense_Mutation_p.W1139*|AGL_ENST00000370161.2_Nonsense_Mutation_p.W1139*|AGL_ENST00000361915.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000370165.3_Nonsense_Mutation_p.W1155*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1155					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATGCTGTGTGGTGGTGGCTG	0.428																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3463-3465)tGg>tAg		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							281.0	265.0	271.0					1																	100366293		2203	4300	6503	SO:0001587	stop_gained	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100366293G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3464G>A	1.37:g.100366293G>A	ENSP00000294724:p.Trp1155*					AGL_ENST00000361522.4_Nonsense_Mutation_p.W1138*|AGL_ENST00000370163.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361915.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000370165.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361302.3_Nonsense_Mutation_p.W1139*|AGL_ENST00000370161.2_Nonsense_Mutation_p.W1139*	p.W1155*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	26	3942	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1155					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	c.3464G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	44	10.829786	0.99474	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9375	0.97146	0.0:0.0:1.0:0.0	.	.	.	.	X	1155;1155;1155;1155;1139;1139;1138	.	ENSP00000294724:W1155X	W	+	2	0	AGL	100138881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.717000	0.92951	0.650000	0.86243	TGG		0.428	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		5	329	0	0	0	1	0	5	329				
ABCB4	5244	broad.mit.edu	37	7	87031478	87031478	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:87031478C>G	ENST00000265723.4	-	28	3906	c.3795G>C	c.(3793-3795)caG>caC	p.Q1265H	ABCB4_ENST00000358400.3_Missense_Mutation_p.Q1211H|ABCB4_ENST00000359206.3_Missense_Mutation_p.Q1258H|ABCB4_ENST00000545634.1_Missense_Mutation_p.Q1258H|ABCB4_ENST00000453593.1_Missense_Mutation_p.Q1211H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1265	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTGCCAGCAGCTGCTGATGCG	0.443																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3793-3795)caG>caC		ATP-binding cassette, sub-family B (MDR/TAP), member 4							131.0	124.0	126.0					7																	87031478		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87031478C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3795G>C	7.37:g.87031478C>G	ENSP00000265723:p.Gln1265His					ABCB4_ENST00000545634.1_Missense_Mutation_p.Q1258H|ABCB4_ENST00000359206.3_Missense_Mutation_p.Q1258H|ABCB4_ENST00000358400.3_Missense_Mutation_p.Q1211H|ABCB4_ENST00000453593.1_Missense_Mutation_p.Q1211H	p.Q1265H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			28	3906	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1265			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3795G>C	CCDS5606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.48|19.48	3.834694|3.834694	0.71373|0.71373	.|.	.|.	ENSG00000005471|ENSG00000005471	ENST00000440025|ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.|T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33	5.3|5.3	5.3|5.3	0.74995|0.74995	.|ABC transporter-like (1);	.|0.057053	.|0.64402	.|D	.|0.000001	T|T	0.77618|0.77618	0.4157|0.4157	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.76494	.|0.366;0.999;0.999	.|B;D;D	.|0.72982	.|0.098;0.979;0.954	T|T	0.79329|0.79329	-0.1848|-0.1848	5|10	.|0.87932	.|D	.|0	-10.3598|-10.3598	19.3068|19.3068	0.94165|0.94165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1211;1258;1265	.|A4D1D5;P21439-2;P21439	.|.;.;MDR3_HUMAN	P|H	70|1258;1211;1265;1211;1258	.|ENSP00000352135:Q1258H;ENSP00000351172:Q1211H;ENSP00000265723:Q1265H;ENSP00000392983:Q1211H;ENSP00000437465:Q1258H	.|ENSP00000265723:Q1265H	A|Q	-|-	1|3	0|2	ABCB4|ABCB4	86869414|86869414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	1.672000|1.672000	0.37523|0.37523	2.626000|2.626000	0.88956|0.88956	0.655000|0.655000	0.94253|0.94253	GCT|CAG		0.443	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		5	185	0	0	0	1	0	5	185				
MSLNL	401827	broad.mit.edu	37	16	823129	823129	+	Splice_Site	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr16:823129C>G	ENST00000442466.1	-	9	1085	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Splice_Site_p.Q713H			Q96KJ4	MSLNL_HUMAN	mesothelin-like	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCCGTGCACCTGTGCGAGCT	0.657																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.e10+1		mesothelin-like							48.0	58.0	55.0					16																	823129		2101	4219	6320	SO:0001630	splice_region_variant	401827				cell adhesion	integral to membrane		g.chr16:823129C>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1086+1G>C	16.37:g.823129C>G						MSLNL_ENST00000442466.1_Splice_Site_p.Q362_splice	p.Q713_splice			Q96KJ4	MSLNL_HUMAN			10	2138	-			362						Splice_Site	SNP	ENST00000442466.1	37	c.2139_splice		.	.	.	.	.	.	.	.	.	.	C	14.71	2.615879	0.46631	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11712	2.75;2.75;2.75	4.19	4.19	0.49359	.	0.440276	0.21575	N	0.072341	T	0.24774	0.0601	.	.	.	0.46131	D	0.998886	D	0.62365	0.991	P	0.59288	0.855	T	0.00609	-1.1646	8	.	.	.	-9.6093	13.6881	0.62529	0.0:1.0:0.0:0.0	.	362	Q96KJ4	MSLNL_HUMAN	H	412;362;713	ENSP00000441381:Q412H;ENSP00000415767:Q362H;ENSP00000293892:Q713H	.	Q	-	3	2	MSLNL	763130	0.276000	0.24211	0.846000	0.33378	0.107000	0.19398	2.122000	0.41987	2.323000	0.78572	0.543000	0.68304	CAG		0.657	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	Missense_Mutation	6	102	0	0	0	1	0	6	102				
ZZEF1	23140	broad.mit.edu	37	17	4020293	4020293	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:4020293G>C	ENST00000381638.2	-	3	791	c.667C>G	c.(667-669)Ctg>Gtg	p.L223V	snoU13_ENST00000459263.1_RNA|ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	223							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGCTGATCCAGAGACTCCTTC	0.512																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(667-669)Ctg>Gtg		zinc finger, ZZ-type with EF-hand domain 1							233.0	222.0	226.0					17																	4020293		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4020293G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.667C>G	17.37:g.4020293G>C	ENSP00000371051:p.Leu223Val					ZZEF1_ENST00000574474.1_5'UTR	p.L223V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			3	791	-			223					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.667C>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684100	0.68157	.	.	ENSG00000074755	ENST00000381638	T	0.63580	-0.05	5.87	3.89	0.44902	Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.72566	0.3476	M	0.62723	1.935	0.48395	D	0.999645	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72388	-0.4309	10	0.87932	D	0	-9.4864	7.0836	0.25245	0.3673:0.0:0.6327:0.0	.	223;223	O43149-3;O43149	.;ZZEF1_HUMAN	V	223	ENSP00000371051:L223V	ENSP00000371051:L223V	L	-	1	2	ZZEF1	3967042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.541000	0.36126	0.827000	0.34685	0.591000	0.81541	CTG		0.512	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	322	0	0	0	1	0	17	322				
S100A7	6278	broad.mit.edu	37	1	153430314	153430314	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:153430314C>G	ENST00000368723.3	-	3	384	c.274G>C	c.(274-276)Gga>Cga	p.G92R	S100A7_ENST00000368722.1_Missense_Mutation_p.G92R	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	92					angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGCTGCTCCATGGCTCTGC	0.517																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(274-276)Gga>Cga		S100 calcium binding protein A7							80.0	75.0	76.0					1																	153430314		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430314C>G	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.274G>C	1.37:g.153430314C>G	ENSP00000357712:p.Gly92Arg					S100A7_ENST00000368722.1_Missense_Mutation_p.G92R	p.G92R	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	384	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		92					Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.274G>C	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.634784	0.29068	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.05996	3.36;3.36	2.15	1.23	0.21249	EF-hand-like domain (1);	.	.	.	.	T	0.03178	0.0093	L	0.35593	1.075	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.27673	-1.0067	9	0.10377	T	0.69	.	4.7966	0.13276	0.0:0.8155:0.0:0.1845	.	92	P31151	S10A7_HUMAN	R	92	ENSP00000357712:G92R;ENSP00000357711:G92R	ENSP00000357711:G92R	G	-	1	0	S100A7	151696938	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.026000	0.03596	0.486000	0.27676	0.194000	0.17425	GGA		0.517	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		4	121	0	0	0	1	0	4	121				
GPR142	350383	broad.mit.edu	37	17	72366698	72366698	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:72366698G>A	ENST00000335666.4	+	3	445	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	133						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGCCCCACGTCAGCGGGCT	0.617																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(397-399)Gtc>Atc		G protein-coupled receptor 142							65.0	54.0	57.0					17																	72366698		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72366698G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.397G>A	17.37:g.72366698G>A	ENSP00000335158:p.Val133Ile						p.V133I	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			3	445	+			133					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.397G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575403	0.28092	.	.	ENSG00000257008	ENST00000335666	T	0.67345	-0.26	4.64	0.334	0.15948	.	0.724710	0.13110	N	0.413051	T	0.37019	0.0988	N	0.08118	0	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.15870	0.014;0.01	T	0.14392	-1.0474	10	0.22109	T	0.4	-4.6989	3.0917	0.06296	0.3722:0.0:0.4427:0.185	.	133;1095	Q7Z601;Q8NGB0	GP142_HUMAN;.	I	133	ENSP00000335158:V133I	ENSP00000335158:V133I	V	+	1	0	GPR142	69878293	0.034000	0.19679	0.003000	0.11579	0.010000	0.07245	0.121000	0.15667	0.251000	0.21505	-0.699000	0.03677	GTC		0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		6	44	0	0	0	1	0	6	44				
CSMD3	114788	broad.mit.edu	37	8	113988206	113988206	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr8:113988206A>T	ENST00000297405.5	-	7	1446	c.1202T>A	c.(1201-1203)cTc>cAc	p.L401H	CSMD3_ENST00000343508.3_Missense_Mutation_p.L361H|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.L401H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	401						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						TGAATTTCTGAGACTCGTAAC	0.498										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.(1201-1203)cTc>cAc		CUB and Sushi multiple domains 3							216.0	189.0	198.0					8																	113988206		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988206A>T	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.1202T>A	8.37:g.113988206A>T	ENSP00000297405:p.Leu401His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.L401H|CSMD3_ENST00000343508.3_Missense_Mutation_p.L361H|CSMD3_ENST00000455883.2_Intron	p.L401H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			7	1446	-			401					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1202T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477175	0.44044	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.21361	2.02;2.01;2.01	6.17	6.17	0.99709	.	0.464404	0.17492	N	0.172308	T	0.14270	0.0345	N	0.22421	0.69	0.27109	N	0.962432	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.21518	-1.0243	10	0.15066	T	0.55	.	11.8437	0.52371	0.8695:0.0:0.0:0.1305	.	401;361	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	H	361;401;401	ENSP00000345799:L361H;ENSP00000297405:L401H;ENSP00000343124:L401H	ENSP00000297405:L401H	L	-	2	0	CSMD3	114057382	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.546000	0.60705	2.371000	0.80710	0.533000	0.62120	CTC		0.498	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	153	0	0	0	1	0	4	153				
NCAPD3	23310	broad.mit.edu	37	11	134029936	134029936	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:134029936C>G	ENST00000534548.2	-	29	3782	c.3718G>C	c.(3718-3720)Gac>Cac	p.D1240H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1240					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCAAAGAAGTCCTTGAGCTCA	0.473																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3718-3720)Gac>Cac		non-SMC condensin II complex, subunit D3							134.0	120.0	125.0					11																	134029936		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134029936C>G	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3718G>C	11.37:g.134029936C>G	ENSP00000433681:p.Asp1240His						p.D1240H	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	29	3782	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1240					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3718G>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793781	0.90453	.	.	ENSG00000151503	ENST00000534548;ENST00000527944	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	Armadillo-type fold (1);	0.252260	0.45126	D	0.000385	T	0.79191	0.4404	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65987	0.868;0.94	T	0.81031	-0.1117	10	0.72032	D	0.01	-16.7747	19.4536	0.94878	0.0:1.0:0.0:0.0	.	1240;300	P42695;Q96FA6	CNDD3_HUMAN;.	H	1240;145	ENSP00000433681:D1240H;ENSP00000432532:D145H	ENSP00000432532:D145H	D	-	1	0	NCAPD3	133535146	1.000000	0.71417	0.989000	0.46669	0.923000	0.55619	7.776000	0.85560	2.648000	0.89879	0.655000	0.94253	GAC		0.473	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		6	98	0	0	0	1	0	6	98				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	102	0	0	0	1	0	3	102				
MCF2	4168	broad.mit.edu	37	X	138668623	138668623	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:138668623C>T	ENST00000370576.4	-	23	2755	c.2546G>A	c.(2545-2547)aGt>aAt	p.S849N	MCF2_ENST00000370578.4_Missense_Mutation_p.S994N|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.S865N|MCF2_ENST00000520602.1_Missense_Mutation_p.S909N|MCF2_ENST00000414978.1_Missense_Mutation_p.S909N|MCF2_ENST00000519895.1_Missense_Mutation_p.S925N|MCF2_ENST00000370573.4_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	849					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCCTCAGTACTTATAAAAGC	0.383																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2725-2727)aGt>aAt		MCF.2 cell line derived transforming sequence							158.0	129.0	139.0					X																	138668623		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138668623C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2546G>A	X.37:g.138668623C>T	ENSP00000359608:p.Ser849Asn					MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370576.4_Missense_Mutation_p.S849N|MCF2_ENST00000338585.6_Missense_Mutation_p.S865N|MCF2_ENST00000370578.4_Missense_Mutation_p.S994N|MCF2_ENST00000519895.1_Missense_Mutation_p.S925N|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000414978.1_Missense_Mutation_p.S909N	p.S909N			P10911	MCF2_HUMAN			26	3011	-	Acute lymphoblastic leukemia(192;0.000127)		849					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2726G>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	3.414	-0.119652	0.06838	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000338585	T;T;T;T;T;T;T	0.52754	1.21;1.1;1.19;1.21;0.65;1.27;1.16	5.36	-3.02	0.05446	.	1.027290	0.07669	N	0.935075	T	0.28267	0.0698	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.001;0.001;0.002	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.002;0.001	T	0.17623	-1.0363	10	0.22706	T	0.39	.	6.4243	0.21760	0.1223:0.4024:0.0:0.4753	.	925;849;994;865;849	E9PH77;B2R9S6;Q5JYJ7;P10911-4;P10911	.;.;.;.;MCF2_HUMAN	N	909;849;994;909;452;925;865	ENSP00000427745:S909N;ENSP00000359608:S849N;ENSP00000359610:S994N;ENSP00000397055:S909N;ENSP00000405848:S452N;ENSP00000430276:S925N;ENSP00000342204:S865N	ENSP00000342204:S865N	S	-	2	0	MCF2	138496289	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.345000	0.19979	-1.227000	0.02571	-0.931000	0.02705	AGT		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	92	0	0	0	1	0	7	92				
EPB42	2038	broad.mit.edu	37	15	43489545	43489545	+	Silent	SNP	G	G	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr15:43489545G>T	ENST00000441366.2	-	13	2256	c.2031C>A	c.(2029-2031)acC>acA	p.T677T	EPB42_ENST00000563128.1_Intron|EPB42_ENST00000300215.3_Silent_p.T707T|EPB42_ENST00000540029.1_Silent_p.T599T	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	677					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTTTATAGTTGGTTAGGTTCT	0.483																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2119-2121)acC>acA		erythrocyte membrane protein band 4.2							159.0	122.0	135.0					15																	43489545		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43489545G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.2031C>A	15.37:g.43489545G>T						EPB42_ENST00000540029.1_Silent_p.T599T|EPB42_ENST00000563128.1_Intron|EPB42_ENST00000441366.2_Silent_p.T677T	p.T707T			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	13	2578	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	677					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.2121C>A	CCDS45249.1																																																																																				0.483	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		3	70	1	0	1	1	1	3	70				
PKP4	8502	broad.mit.edu	37	2	159477861	159477861	+	Silent	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:159477861G>A	ENST00000389759.3	+	6	643	c.531G>A	c.(529-531)caG>caA	p.Q177Q	PKP4_ENST00000389757.3_Silent_p.Q177Q	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	177					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACAGACAGCAGCATTCATTCA	0.453										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(529-531)caG>caA		plakophilin 4							129.0	108.0	115.0					2																	159477861		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159477861G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.531G>A	2.37:g.159477861G>A		HNSCC(62;0.18)				PKP4_ENST00000389759.3_Silent_p.Q177Q	p.Q177Q	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			6	656	+			177					Q86W91	Silent	SNP	ENST00000389759.3	37	c.531G>A	CCDS33305.1																																																																																				0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			3	100	0	0	0	1	0	3	100				
INPP5B	3633	broad.mit.edu	37	1	38409493	38409493	+	Silent	SNP	G	G	C			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:38409493G>C	ENST00000373026.1	-	3	225	c.225C>G	c.(223-225)gtC>gtG	p.V75V	INPP5B_ENST00000373021.1_Silent_p.V75V|INPP5B_ENST00000373024.3_Silent_p.V75V|INPP5B_ENST00000373023.2_Silent_p.V75V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	75	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATCCCGCGAGACTGGCACTA	0.582																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(223-225)gtC>gtG		inositol polyphosphate-5-phosphatase, 75kDa							93.0	91.0	92.0					1																	38409493		1953	4148	6101	SO:0001819	synonymous_variant	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38409493G>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.225C>G	1.37:g.38409493G>C						INPP5B_ENST00000373021.1_Silent_p.V75V|INPP5B_ENST00000373024.3_Silent_p.V75V|INPP5B_ENST00000373026.1_Silent_p.V75V	p.V75V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			4	318	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	75					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.225C>G																																																																																					0.582	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		6	207	0	0	0	1	0	6	207				
SLC24A1	9187	broad.mit.edu	37	15	65943130	65943130	+	Silent	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr15:65943130G>A	ENST00000261892.6	+	7	2930	c.2643G>A	c.(2641-2643)gaG>gaA	p.E881E	SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000339868.6_Silent_p.E863E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	881	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						aggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)gaG>gaA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							37.0	42.0	40.0					15																	65943130		2191	4285	6476	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943130G>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2643G>A	15.37:g.65943130G>A						SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000339868.6_Silent_p.E863E	p.E881E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2930	+			881			Poly-Glu.		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.2643G>A	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		3	23	0	0	0	1	0	3	23				
ZMAT1	84460	broad.mit.edu	37	X	101138612	101138612	+	Missense_Mutation	SNP	C	C	T	rs141908807	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:101138612C>T	ENST00000372782.3	-	7	1834	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R425Q|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R596Q	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R425Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTTTTTTCGATGCTTAAG	0.383																																						ENST00000372782.3																			1	Substitution - Missense(1)	p.R425Q(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1786-1788)cGa>cAa		zinc finger, matrin-type 1		C	GLN/ARG	0,3835		0,0,0,1632,571	184.0	158.0	166.0		1787	1.6	1.0	X	dbSNP_134	166	1,6725		0,0,1,2427,1871	no	missense	ZMAT1	NM_001011657.3	43	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	596/639	101138612	1,10560	2203	4299	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138612C>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1787G>A	X.37:g.101138612C>T	ENSP00000361868:p.Arg596Gln					ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R596Q|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R425Q	p.R596Q	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1834	-			425					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1787G>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291668	0.40594	0.0	1.49E-4	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27104	2.3;2.3;1.69	4.27	1.56	0.23342	.	0.202088	0.30285	N	0.009977	T	0.21427	0.0516	M	0.72118	2.19	0.30656	N	0.754896	P	0.34662	0.462	B	0.22753	0.041	T	0.13124	-1.0521	10	0.51188	T	0.08	-0.958	7.2569	0.26181	0.0:0.6815:0.0:0.3185	.	596	Q5H9K5	ZMAT1_HUMAN	Q	596;596;425	ENSP00000361868:R596Q;ENSP00000437529:R596Q;ENSP00000413044:R425Q	ENSP00000361868:R596Q	R	-	2	0	ZMAT1	101025268	0.001000	0.12720	0.998000	0.56505	0.993000	0.82548	-0.037000	0.12164	0.190000	0.20209	0.600000	0.82982	CGA		0.383	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			4	65	0	0	0	1	0	4	65				
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						ENST00000358615.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5								glycophorin E (MNS blood group)							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame		NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN			0	41	-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37		CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		4	62	0	0	0	1	0	4	62				
MX1	4599	broad.mit.edu	37	21	42812881	42812881	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr21:42812881A>G	ENST00000398600.2	+	11	1684	c.659A>G	c.(658-660)aAt>aGt	p.N220S	MX1_ENST00000398598.3_Missense_Mutation_p.N220S|MX1_ENST00000455164.2_Missense_Mutation_p.N220S|MX1_ENST00000288383.6_Missense_Mutation_p.N197S|AP001610.5_ENST00000411427.1_RNA	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	220	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GTCCCCAGTAATGTGGACATC	0.572																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(658-660)aAt>aGt		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							120.0	111.0	114.0					21																	42812881		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42812881A>G		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.659A>G	21.37:g.42812881A>G	ENSP00000381601:p.Asn220Ser					MX1_ENST00000398598.3_Missense_Mutation_p.N220S|MX1_ENST00000455164.2_Missense_Mutation_p.N220S|MX1_ENST00000288383.6_Missense_Mutation_p.N197S	p.N220S	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			11	1684	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	220					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.659A>G	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332694	0.81801	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.65	4.65	0.58169	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	-65.9414	13.6501	0.62306	1.0:0.0:0.0:0.0	.	220	P20591	MX1_HUMAN	S	220;220;220;197	ENSP00000381601:N220S;ENSP00000381599:N220S;ENSP00000410523:N220S;ENSP00000288383:N197S	ENSP00000288383:N197S	N	+	2	0	MX1	41734751	1.000000	0.71417	0.046000	0.18839	0.891000	0.51852	5.990000	0.70595	2.050000	0.60909	0.528000	0.53228	AAT		0.572	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			14	147	0	0	0	1	0	14	147				
MTMR1	8776	broad.mit.edu	37	X	149931175	149931175	+	Silent	SNP	C	C	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:149931175C>T	ENST00000370390.3	+	15	2128	c.1971C>T	c.(1969-1971)tcC>tcT	p.S657S	MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000445323.2_Silent_p.S665S|MTMR1_ENST00000544228.1_Silent_p.S657S|MTMR1_ENST00000541925.1_Silent_p.S563S	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	657					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.S657S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCACTCCGCCACCTCCG	0.672																																						ENST00000445323.2																			1	Substitution - coding silent(1)	p.S657S(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1993-1995)tcC>tcT		myotubularin related protein 1							36.0	34.0	35.0					X																	149931175		2203	4298	6501	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149931175C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1971C>T	X.37:g.149931175C>T						MTMR1_ENST00000541925.1_Silent_p.S563S|MTMR1_ENST00000544228.1_Silent_p.S657S|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000370390.3_Silent_p.S657S	p.S665S			Q13613	MTMR1_HUMAN			16	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		657					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1995C>T	CCDS14695.1																																																																																				0.672	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		20	62	0	0	0	1	0	20	62				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	88	0	0	0	1	0	3	88				
KLF5	688	broad.mit.edu	37	13	73649937	73649937	+	Silent	SNP	C	C	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr13:73649937C>A	ENST00000377687.4	+	4	1823	c.1287C>A	c.(1285-1287)ggC>ggA	p.G429G	KLF5_ENST00000539231.1_Silent_p.G338G	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	429					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGCACACAGGCGCCAAGCCCT	0.607																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1285-1287)ggC>ggA		Kruppel-like factor 5 (intestinal)							79.0	78.0	78.0					13																	73649937		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649937C>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1287C>A	13.37:g.73649937C>A						KLF5_ENST00000539231.1_Silent_p.G338G	p.G429G	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1823	+		Prostate(6;0.00187)|Breast(118;0.0735)	429					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.1287C>A	CCDS9448.1																																																																																				0.607	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			3	66	1	0	0.150653	1	0.154958	3	66				
INTS5	80789	broad.mit.edu	37	11	62414648	62414648	+	Silent	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:62414648G>A	ENST00000330574.2	-	2	2956	c.2904C>T	c.(2902-2904)cgC>cgT	p.R968R	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	968					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCGAATGAAGCGACCCCGCT	0.597																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2902-2904)cgC>cgT		integrator complex subunit 5							127.0	126.0	127.0					11																	62414648		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414648G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2904C>T	11.37:g.62414648G>A							p.R968R	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2956	-			968					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2904C>T	CCDS8027.1																																																																																				0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		5	171	0	0	0	1	0	5	171				
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56.0	52.0	53.0					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		3	65	1	0	0.004672	1	0.005256	3	65				
ZC3H13	23091	broad.mit.edu	37	13	46619560	46619560	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr13:46619560T>A	ENST00000242848.4	-	2	431	c.83A>T	c.(82-84)gAg>gTg	p.E28V	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E28V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	28							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCAAGCCTCTCAAATACACT	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(82-84)gAg>gTg		zinc finger CCCH-type containing 13							213.0	225.0	221.0					13																	46619560		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46619560T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.83A>T	13.37:g.46619560T>A	ENSP00000242848:p.Glu28Val					ZC3H13_ENST00000282007.3_Missense_Mutation_p.E28V	p.E28V			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	2	431	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	28					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.83A>T		.	.	.	.	.	.	.	.	.	.	T	14.76	2.630479	0.46944	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.55930	1.53;0.49	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000030	T	0.54695	0.1874	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.65899	-0.6056	10	0.87932	D	0	.	15.6151	0.76760	0.0:0.0:0.0:1.0	.	28;28	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	V	28	ENSP00000242848:E28V;ENSP00000282007:E28V	ENSP00000242848:E28V	E	-	2	0	ZC3H13	45517561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.096000	0.63516	0.477000	0.44152	GAG		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	250	0	0	0	1	0	7	250				
CATSPERD	257062	broad.mit.edu	37	19	5727298	5727298	+	Missense_Mutation	SNP	C	C	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr19:5727298C>A	ENST00000381624.3	+	3	207	c.146C>A	c.(145-147)cCt>cAt	p.P49H	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	49					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TATTTTCATCCTACAACAACA	0.303																																						ENST00000381624.3																			0											c.(145-147)cCt>cAt		catsper channel auxiliary subunit delta							108.0	100.0	102.0					19																	5727298		1818	4069	5887	SO:0001583	missense	257062					integral to membrane		g.chr19:5727298C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.146C>A	19.37:g.5727298C>A	ENSP00000371037:p.Pro49His					CATSPERD_ENST00000381614.2_5'UTR	p.P49H	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			3	207	+			49					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.146C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	6.670	0.492148	0.12702	.	.	ENSG00000174898	ENST00000381624	T	0.22134	1.97	3.0	1.95	0.26073	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.18873	N	0.999983	B	0.33448	0.412	B	0.26094	0.066	T	0.20840	-1.0263	9	0.56958	D	0.05	.	6.0334	0.19692	0.0:0.8572:0.0:0.1427	.	49	Q86XM0	TM146_HUMAN	H	49	ENSP00000371037:P49H	ENSP00000371037:P49H	P	+	2	0	TMEM146	5678298	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.132000	0.10467	0.835000	0.34877	0.467000	0.42956	CCT		0.303	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		3	93	1	0	0.00909568	1	0.00992256	3	93				
FBXO41	150726	broad.mit.edu	37	2	73486158	73486158	+	Silent	SNP	C	C	T	rs200807832	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:73486158C>T	ENST00000521871.1	-	13	2995	c.2580G>A	c.(2578-2580)agG>agA	p.R860R	FBXO41_ENST00000520530.2_Silent_p.R860R|FBXO41_ENST00000295133.5_Silent_p.R921R			Q8TF61	FBX41_HUMAN	F-box protein 41	860										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AGAAGCCGGGCCTCCGTCGCA	0.677													C|||	3	0.000599042	0.0	0.0	5008	,	,		15791	0.0		0.003	False		,,,				2504	0.0					ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(2578-2580)agG>agA		F-box protein 41		C		1,3875		0,1,1937	24.0	29.0	27.0		2580	2.1	1.0	2		27	16,8184		0,16,4084	no	coding-synonymous	FBXO41	NM_001080410.2		0,17,6021	TT,TC,CC		0.1951,0.0258,0.1408		860/876	73486158	17,12059	1938	4100	6038	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73486158C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2580G>A	2.37:g.73486158C>T						FBXO41_ENST00000520530.2_Silent_p.R860R|FBXO41_ENST00000295133.5_Silent_p.R921R	p.R860R			Q8TF61	FBX41_HUMAN			13	2995	-			860					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.2580G>A	CCDS46337.2																																																																																				0.677	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			4	7	0	0	0	1	0	4	7				
SOWAHC	65124	broad.mit.edu	37	2	110373405	110373405	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:110373405G>T	ENST00000356454.3	+	1	1495	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	447																	CTCGGCTGAGGGGTGGGTCGG	0.552																																						ENST00000356454.3																			0											c.(1339-1341)Ggg>Tgg		sosondowah ankyrin repeat domain family member C							54.0	56.0	56.0					2																	110373405		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373405G>T	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1339G>T	2.37:g.110373405G>T	ENSP00000365830:p.Gly447Trp						p.G447W	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1495	+			447					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1339G>T	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637643	0.47049	.	.	ENSG00000198142	ENST00000356454	T	0.49432	0.78	4.69	4.69	0.59074	.	.	.	.	.	T	0.51466	0.1676	N	0.24115	0.695	0.26446	N	0.975682	D	0.69078	0.997	P	0.61328	0.887	T	0.45041	-0.9288	9	0.72032	D	0.01	-7.7176	12.7041	0.57051	0.0:0.1655:0.8345:0.0	.	447	Q53LP3	ANR57_HUMAN	W	447	ENSP00000365830:G447W	ENSP00000365830:G447W	G	+	1	0	ANKRD57	109730694	0.962000	0.33011	0.163000	0.22734	0.057000	0.15508	2.096000	0.41738	2.446000	0.82766	0.556000	0.70494	GGG		0.552	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		3	82	1	0	0.115264	1	0.122044	3	82				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	64	0	0	0	1	0	42	64				
UBBP4	23666	broad.mit.edu	37	17	21731181	21731181	+	Silent	SNP	C	C	T	rs531676258		TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:21731181C>T	ENST00000578713.1	+	1	487	c.483C>T	c.(481-483)acC>acT	p.T161T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Silent_p.T161T					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGACCCTGACCGGCAAGACCA	0.537													.|||	1	0.000199681	0.0008	0.0	5008	,	,		23124	0.0		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(481-483)acC>acT																																						SO:0001819	synonymous_variant	0							g.chr17:21731181C>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.483C>T	17.37:g.21731181C>T						UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Silent_p.T161T|UBBP4_ENST00000583708.1_3'UTR	p.T161T							2	880	+									Silent	SNP	ENST00000578713.1	37	c.483C>T																																																																																					0.537	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	82	0	0	0	1	0	4	82				
ORAI2	80228	broad.mit.edu	37	7	102087134	102087134	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:102087134A>T	ENST00000356387.2	+	4	635	c.400A>T	c.(400-402)Atc>Ttc	p.I134F	ORAI2_ENST00000403646.3_Missense_Mutation_p.I134F|ORAI2_ENST00000473939.1_Missense_Mutation_p.I134F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.2_Missense_Mutation_p.I134F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	134						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCTGAACTCCATCAGCGAGTC	0.627																																						ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(400-402)Atc>Ttc		ORAI calcium release-activated calcium modulator 2							180.0	151.0	161.0					7																	102087134		2203	4300	6503	SO:0001583	missense	80228					integral to membrane	protein binding	g.chr7:102087134A>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.400A>T	7.37:g.102087134A>T	ENSP00000348752:p.Ile134Phe					ORAI2_ENST00000473939.1_Missense_Mutation_p.I134F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Missense_Mutation_p.I134F|ORAI2_ENST00000403646.3_Missense_Mutation_p.I134F	p.I134F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	635	+			134					Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	c.400A>T	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051499	0.55218	.	.	ENSG00000160991	ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000473939	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.41	5.41	0.78517	.	0.163707	0.51477	D	0.000093	T	0.31765	0.0807	N	0.22421	0.69	0.58432	D	0.999991	P	0.38250	0.624	B	0.40444	0.329	T	0.21245	-1.0251	10	0.87932	D	0	-13.2426	9.1877	0.37180	0.9195:0.0:0.0805:0.0	.	134	Q96SN7	ORAI2_HUMAN	F	134	ENSP00000420178:I134F;ENSP00000348752:I134F;ENSP00000418140:I134F;ENSP00000417407:I134F;ENSP00000385489:I134F;ENSP00000417928:I134F	ENSP00000348752:I134F	I	+	1	0	ORAI2	101874139	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.159000	0.71856	2.062000	0.61559	0.459000	0.35465	ATC		0.627	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		5	230	0	0	0	1	0	5	230				
DBN1	1627	broad.mit.edu	37	5	176886214	176886214	+	Silent	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr5:176886214G>A	ENST00000309007.5	-	11	1230	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	DBN1_ENST00000292385.5_Silent_p.S339S|DBN1_ENST00000393563.4_Silent_p.S69S|DBN1_ENST00000512501.1_Silent_p.S69S|DBN1_ENST00000393565.1_Silent_p.S383S	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	337					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCAGACGGGCTCCGCGTGG	0.697																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1015-1017)agC>agT		drebrin 1							76.0	78.0	77.0					5																	176886214		2203	4300	6503	SO:0001819	synonymous_variant	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176886214G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1011C>T	5.37:g.176886214G>A						DBN1_ENST00000512501.1_Silent_p.S69S|DBN1_ENST00000393565.1_Silent_p.S383S|DBN1_ENST00000309007.5_Silent_p.S337S|DBN1_ENST00000393563.4_Silent_p.S69S	p.S339S	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1626	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	337					A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	c.1017C>T	CCDS4420.1																																																																																				0.697	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		4	215	0	0	0	1	0	4	215				
TTN	7273	broad.mit.edu	37	2	179454215	179454218	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:179454215_179454218delTTTG	ENST00000591111.1	-	254	57535_57538	c.57311_57314delCAAA	c.(57310-57315)acaaagfs	p.TK19104fs	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.TK11872fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.TK11805fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.TK18177fs|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.TK11680fs|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.TK20745fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19104	Fibronectin type-III 38. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTCATTCTTTGTTTGCACTCT	0.402																																						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.(62233-62238)agfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454215_179454218delTTTG	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.57311_57314delCAAA	2.37:g.179454219_179454222delTTTG	ENSP00000465570:p.Thr19104fs					TTN_ENST00000359218.5_Frame_Shift_Del_p.TK11805fs|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.TK18177fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.TK19104fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.TK11872fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.TK11680fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.TK20745fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	62458_62461	-			19104			Fibronectin type-III 50.		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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.62234_62237delCAAA																																																																																					0.402	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	35						10	35	---	---	---	---
LINC01107	151171	broad.mit.edu	37	2	239429499	239429501	+	lincRNA	DEL	TGG	TGG	-	rs111209889|rs371362017	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:239429499_239429501delTGG	ENST00000446979.1	-	0	718					NR_037809.1																						gtgatggtgatggtggtgatggc	0.473														366	0.0730831	0.177	0.0259	5008	,	,		36871	0.0258		0.0219	False		,,,				2504	0.0675					ENST00000446979.1																			0																																																			0							g.chr2:239429499_239429501delTGG																													2.37:g.239429502_239429504delTGG								NR_037809.1						0	718	-									RNA	DEL	ENST00000446979.1	37																																																																																						0.473	AC092619.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000328258.1			3	3						3	3	---	---	---	---
AC096582.1	0	broad.mit.edu	37	7	45905737	45905738	+	In_Frame_Ins	INS	-	-	TGC	rs202125878	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:45905737_45905738insTGC	ENST00000596600.1	-	1	307_308	c.308_309insGCA	c.(307-309)caa>caGCAa	p.103_103Q>QQ																								GGAGGGACTCTtgctgctgctg	0.624														48	0.00958466	0.0008	0.0331	5008	,	,		20389	0.001		0.0109	False		,,,				2504	0.0123					ENST00000596600.1																			0											c.(307-309)cga>cGCAga																																						SO:0001652	inframe_insertion	0							g.chr7:45905737_45905738insTGC																												ENST00000596600.1:c.306_308dupGCA	7.37:g.45905744_45905746dupTGC	ENSP00000469663:p.Gln103dup						p.103_103R>RR							1	307_308	-									In_Frame_Ins	INS	ENST00000596600.1	37	c.308_309insGCA																																																																																					0.624	AC096582.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---
