#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
SPTB	6710	broad.mit.edu	37	14	65237698	65237698	+	Silent	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr14:65237698G>A	ENST00000389721.5	-	26	5735	c.5703C>T	c.(5701-5703)gaC>gaT	p.D1901D	SPTB_ENST00000542895.1_Silent_p.D1901D|SPTB_ENST00000556626.1_Silent_p.D1901D|SPTB_ENST00000389720.3_Silent_p.D1901D|SPTB_ENST00000389722.3_Silent_p.D1901D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1901					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TATCCGCCGTGTCCACTAGCT	0.642																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5701-5703)gaC>gaT		spectrin, beta, erythrocytic							58.0	59.0	59.0					14																	65237698		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65237698G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5703C>T	14.37:g.65237698G>A						SPTB_ENST00000542895.1_Silent_p.D1901D|SPTB_ENST00000556626.1_Silent_p.D1901D|SPTB_ENST00000389720.3_Silent_p.D1901D|SPTB_ENST00000389721.5_Silent_p.D1901D	p.D1901D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	26	5756	-		all_lung(585;4.15e-09)	1901					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5703C>T	CCDS32100.1																																																																																				0.642	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			17	52	0	0	0	1	0	17	52				
IGHV4-61	28391	broad.mit.edu	37	14	107095582	107095582	+	RNA	SNP	G	G	T	rs199752067	byFrequency	TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr14:107095582G>T	ENST00000390630.2	-	0	80				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGGAGGTCCAGGACTCTCAGA	0.502																																						ENST00000390630.2																			0																				18.0	34.0	29.0					14																	107095582		1656	3889	5545			28391							g.chr14:107095582G>T	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095582G>T														0	80	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.502	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		3	37	1	0	0.00448238	1	0.00465478	3	37				
KRT82	3888	broad.mit.edu	37	12	52797571	52797571	+	Silent	SNP	C	C	T			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr12:52797571C>T	ENST00000257974.2	-	2	611	c.534G>A	c.(532-534)cgG>cgA	p.R178R	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	178	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGTCCAGCTGCCGCCGAAGGG	0.592																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(532-534)cgG>cgA		keratin 82							60.0	63.0	62.0					12																	52797571		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52797571C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.534G>A	12.37:g.52797571C>T							p.R178R	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	2	611	-			178			Coil 1B.|Rod.			Silent	SNP	ENST00000257974.2	37	c.534G>A	CCDS8826.1																																																																																				0.592	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		4	116	0	0	0	1	0	4	116				
ZFC3H1	196441	broad.mit.edu	37	12	72017892	72017892	+	Missense_Mutation	SNP	T	T	C	rs369284054		TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr12:72017892T>C	ENST00000378743.3	-	23	4856	c.4498A>G	c.(4498-4500)Att>Gtt	p.I1500V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1500					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACCTGTAAAATTGCCAGTGCA	0.368																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4498-4500)Att>Gtt		zinc finger, C3H1-type containing		T	VAL/ILE	1,3677		0,1,1838	157.0	148.0	151.0		4498	-4.2	0.8	12		151	0,8192		0,0,4096	no	missense	ZFC3H1	NM_144982.4	29	0,1,5934	CC,CT,TT		0.0,0.0272,0.0084	benign	1500/1990	72017892	1,11869	1839	4096	5935	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72017892T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4498A>G	12.37:g.72017892T>C	ENSP00000368017:p.Ile1500Val						p.I1500V	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			23	4856	-			1500					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4498A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324464	0.24080	2.72E-4	0.0	ENSG00000133858	ENST00000378743	T	0.35605	1.3	5.39	-4.21	0.03812	.	0.364292	0.27886	N	0.017449	T	0.15262	0.0368	L	0.27053	0.805	0.39614	D	0.969927	B	0.06786	0.001	B	0.04013	0.001	T	0.14172	-1.0482	10	0.14252	T	0.57	.	3.3968	0.07308	0.0869:0.2584:0.3509:0.3039	.	1500	O60293	ZC3H1_HUMAN	V	1500	ENSP00000368017:I1500V	ENSP00000368017:I1500V	I	-	1	0	ZFC3H1	70304159	0.438000	0.25602	0.834000	0.33040	0.876000	0.50452	0.072000	0.14617	-0.568000	0.06038	-0.290000	0.09829	ATT		0.368	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	369	0	0	0	1	0	7	369				
IGHV4-61	28391	broad.mit.edu	37	14	107095585	107095585	+	RNA	SNP	C	C	G	rs374786542		TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr14:107095585C>G	ENST00000390630.2	-	0	77				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGGTCCAGGACTCTCAGAAAG	0.507																																						ENST00000390630.2																			0															C		23,3269		0,23,1623	16.0	32.0	27.0			0.7	0.0	14		27	9,7755		0,9,3873	no	intergenic				0,32,5496	GG,GC,CC		0.1159,0.6987,0.2894			107095585	32,11024	1646	3882	5528			28391							g.chr14:107095585C>G	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095585C>G														0	77	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.507	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		3	37	0	0	0	1	0	3	37				
ARHGEF15	22899	broad.mit.edu	37	17	8215731	8215731	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr17:8215731G>C	ENST00000361926.3	+	2	484	c.374G>C	c.(373-375)gGg>gCg	p.G125A	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.G125A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	125	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AAGCCGTCTGGGTCACCCTGC	0.667																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(373-375)gGg>gCg		Rho guanine nucleotide exchange factor (GEF) 15							69.0	72.0	71.0					17																	8215731		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215731G>C	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.374G>C	17.37:g.8215731G>C	ENSP00000355026:p.Gly125Ala					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.G125A	p.G125A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	484	+			125			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.374G>C	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	G	6.004	0.369117	0.11352	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.78003	-1.14;-1.14	5.02	2.86	0.33363	.	1.641420	0.03108	N	0.162149	T	0.66096	0.2755	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.50783	-0.8787	10	0.26408	T	0.33	-11.7184	5.3144	0.15847	0.1169:0.2404:0.6427:0.0	.	125;125	D3DTR7;O94989	.;ARHGF_HUMAN	A	125	ENSP00000355026:G125A;ENSP00000412505:G125A	ENSP00000355026:G125A	G	+	2	0	ARHGEF15	8156456	0.658000	0.27402	0.831000	0.32960	0.375000	0.29983	1.351000	0.34022	1.329000	0.45376	0.555000	0.69702	GGG		0.667	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		7	129	0	0	0	1	0	7	129				
MYH15	22989	broad.mit.edu	37	3	108147534	108147534	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:108147534G>T	ENST00000273353.3	-	28	3623	c.3567C>A	c.(3565-3567)gaC>gaA	p.D1189E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1189						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTCTTCCATGTCTCGGTGCA	0.493																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3565-3567)gaC>gaA		myosin, heavy chain 15							134.0	130.0	131.0					3																	108147534		1962	4159	6121	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147534G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3567C>A	3.37:g.108147534G>T	ENSP00000273353:p.Asp1189Glu						p.D1189E	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			28	3623	-			1189						Missense_Mutation	SNP	ENST00000273353.3	37	c.3567C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	6.170	0.399496	0.11696	.	.	ENSG00000144821	ENST00000273353	D	0.82619	-1.63	4.95	-1.95	0.07548	Myosin tail (1);	.	.	.	.	T	0.74535	0.3729	L	0.49513	1.565	0.40108	D	0.976456	B	0.21606	0.058	B	0.30495	0.116	T	0.60010	-0.7346	9	0.38643	T	0.18	.	4.4305	0.11525	0.4506:0.0:0.3019:0.2475	.	1189	Q9Y2K3	MYH15_HUMAN	E	1189	ENSP00000273353:D1189E	ENSP00000273353:D1189E	D	-	3	2	MYH15	109630224	0.999000	0.42202	0.000000	0.03702	0.041000	0.13682	0.668000	0.25127	-0.368000	0.08040	-0.145000	0.13849	GAC		0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		6	89	1	0	2.7689e-08	1	3.11501e-08	6	89				
NCAPD3	23310	broad.mit.edu	37	11	134029868	134029868	+	Silent	SNP	C	C	T			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr11:134029868C>T	ENST00000534548.2	-	29	3850	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1262					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)		CCTGGACCAGCTGTTCCTGGT	0.552																																						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.(3784-3786)caG>caA		non-SMC condensin II complex, subunit D3							144.0	117.0	127.0					11																	134029868		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134029868C>T	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.3786G>A	11.37:g.134029868C>T							p.Q1262Q	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	3850	-	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)	1262					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.3786G>A	CCDS31723.1																																																																																				0.552	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		26	55	0	0	0	1	0	26	55				
FRG1B	284802	broad.mit.edu	37	20	29624070	29624070	+	Missense_Mutation	SNP	G	G	A	rs113131305	byFrequency	TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr20:29624070G>A	ENST00000278882.3	+	4	474	c.94G>A	c.(94-96)Gct>Act	p.A32T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A32T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A37T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	32								p.A32T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCAGTTTATGGCTGTCAAATT	0.279													.|||	3	0.000599042	0.0	0.0	5008	,	,		18542	0.001		0.002	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.A32T(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(94-96)Gct>Act																																						SO:0001583	missense	284802							g.chr20:29624070G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.94G>A	20.37:g.29624070G>A	ENSP00000278882:p.Ala32Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A32T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A37T	p.A32T							4	474	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.94G>A		.	.	.	.	.	.	.	.	.	.	g	13.90	2.374450	0.42105	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.91	1.91	0.25777	.	0.171467	0.50627	D	0.000119	T	0.51601	0.1684	.	.	.	0.43304	D	0.995305	P	0.35894	0.526	P	0.47470	0.548	T	0.56300	-0.8002	9	0.56958	D	0.05	.	9.8627	0.41125	0.0:0.0:1.0:0.0	.	37	F5H5R5	.	T	32;37;32	ENSP00000408863:A37T	ENSP00000278882:A32T	A	+	1	0	FRG1B	28237731	1.000000	0.71417	0.999000	0.59377	0.324000	0.28378	7.759000	0.85235	1.383000	0.46405	0.184000	0.17185	GCT		0.279	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	21	0	0	0	1	0	3	21				
FLG2	388698	broad.mit.edu	37	1	152325696	152325696	+	Silent	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr1:152325696G>A	ENST00000388718.5	-	3	4638	c.4566C>T	c.(4564-4566)caC>caT	p.H1522H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1522					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTTTGGCCGTGAGTGTGTC	0.498																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4564-4566)caC>caT		filaggrin family member 2																																				SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325696G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4566C>T	1.37:g.152325696G>A						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H1522H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4638	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1522					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4566C>T	CCDS30861.1																																																																																				0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	393	0	0	0	1	0	7	393				
GATAD2B	57459	broad.mit.edu	37	1	153800617	153800617	+	Silent	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr1:153800617G>A	ENST00000368655.4	-	2	450	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	69					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGACACCACTGCCATCCTGTT	0.478																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(205-207)ggC>ggT		GATA zinc finger domain containing 2B							218.0	185.0	196.0					1																	153800617		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153800617G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.207C>T	1.37:g.153800617G>A							p.G69G	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	450	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		69					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.207C>T	CCDS1054.1																																																																																				0.478	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		9	153	0	0	0	1	0	9	153				
ABCA12	26154	broad.mit.edu	37	2	215910616	215910616	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:215910616A>T	ENST00000272895.7	-	7	1036	c.817T>A	c.(817-819)Ttt>Att	p.F273I		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	273					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATTCTGAAACACATTTGGA	0.358																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(817-819)Ttt>Att		ATP-binding cassette, sub-family A (ABC1), member 12							89.0	92.0	91.0					2																	215910616		2202	4300	6502	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215910616A>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.817T>A	2.37:g.215910616A>T	ENSP00000272895:p.Phe273Ile						p.F273I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	7	1036	-		Renal(323;0.127)	273					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.817T>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069774	0.55539	.	.	ENSG00000144452	ENST00000272895	T	0.23552	1.9	5.62	4.47	0.54385	.	0.088909	0.49305	D	0.000145	T	0.16300	0.0392	L	0.27053	0.805	0.80722	D	1	B	0.24258	0.1	B	0.15484	0.013	T	0.06023	-1.0850	10	0.35671	T	0.21	.	8.4528	0.32882	0.9117:0.0:0.0883:0.0	.	273	Q86UK0	ABCAC_HUMAN	I	273	ENSP00000272895:F273I	ENSP00000272895:F273I	F	-	1	0	ABCA12	215618861	0.997000	0.39634	0.997000	0.53966	0.988000	0.76386	1.043000	0.30316	1.082000	0.41137	0.477000	0.44152	TTT		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		35	52	0	0	0	1	0	35	52				
ST3GAL3	6487	broad.mit.edu	37	1	44201956	44201956	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr1:44201956G>A	ENST00000361392.4	+	2	200	c.23G>A	c.(22-24)cGc>cAc	p.R8H	ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	8					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GTATTTGTGCGCAATCTGCTG	0.413																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(22-24)cGc>cAc		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							289.0	270.0	276.0					1																	44201956		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44201956G>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.23G>A	1.37:g.44201956G>A	ENSP00000355341:p.Arg8His					ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H	p.R8H	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			2	200	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	8					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.23G>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205762	0.79127	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80738	0.37;0.66;0.21;0.06;0.14;0.36;-0.38;-1.38;-1.39;0.02;-1.41;0.35;-1.38;-1.39;-1.36;0.02;0.21;-0.46;-0.4;-0.39;0.06;0.14;0.14;0.01;-0.38;0.36;-1.33	5.94	5.94	0.96194	.	0.272357	0.40728	N	0.001027	D	0.84392	0.5462	N	0.24115	0.695	0.53688	D	0.999978	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.999;0.998;1.0;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.989;0.984;0.984;0.984;0.994;0.984;0.984;0.984;0.993;0.996;0.984;0.989;0.984;0.989;0.964;0.996;0.989;0.964	D	0.83927	0.0304	10	0.42905	T	0.14	.	19.977	0.97313	0.0:0.0:1.0:0.0	.	8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8	Q11203-22;Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	H	8	ENSP00000355341:R8H;ENSP00000354748:R8H;ENSP00000262915:R8H;ENSP00000361450:R8H;ENSP00000316999:R8H;ENSP00000361449:R8H;ENSP00000330463:R8H;ENSP00000439634:R8H;ENSP00000333494:R8H;ENSP00000335633:R8H;ENSP00000361452:R8H;ENSP00000317192:R8H;ENSP00000355201:R8H;ENSP00000361437:R8H;ENSP00000435603:R8H;ENSP00000361444:R8H;ENSP00000354657:R8H;ENSP00000361442:R8H;ENSP00000361441:R8H;ENSP00000361440:R8H;ENSP00000361443:R8H;ENSP00000361447:R8H;ENSP00000434876:R8H;ENSP00000432682:R8H;ENSP00000432965:R8H;ENSP00000329755:R8H;ENSP00000434378:R8H	ENSP00000262915:R8H	R	+	2	0	ST3GAL3	43974543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.891000	0.75639	2.814000	0.96858	0.563000	0.77884	CGC		0.413	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		4	173	0	0	0	1	0	4	173				
GATA4	2626	broad.mit.edu	37	8	11606509	11606509	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr8:11606509C>T	ENST00000335135.4	+	3	1256	c.698C>T	c.(697-699)aCg>aTg	p.T233M	GATA4_ENST00000532059.1_Missense_Mutation_p.T234M|GATA4_ENST00000528712.1_Missense_Mutation_p.T27M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	233					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T233M(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CGAGATGGGACGGGTCACTAT	0.587																																						ENST00000335135.4																			1	Substitution - Missense(1)	p.T233M(1)	large_intestine(1)	central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(697-699)aCg>aTg		GATA binding protein 4							117.0	108.0	111.0					8																	11606509		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11606509C>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.698C>T	8.37:g.11606509C>T	ENSP00000334458:p.Thr233Met					GATA4_ENST00000528712.1_Missense_Mutation_p.T27M|GATA4_ENST00000532059.1_Missense_Mutation_p.T234M	p.T233M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	3	1256	+	all_epithelial(15;0.0839)		233					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.698C>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101546	0.94245	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01	5.61	5.61	0.85477	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.99	D	0.99892	1.1138	10	0.87932	D	0	-23.4441	18.9896	0.92786	0.0:1.0:0.0:0.0	.	234;233	B7ZKZ4;P43694	.;GATA4_HUMAN	M	27;27;233;232;234	ENSP00000435043:T27M;ENSP00000435347:T27M;ENSP00000334458:T233M;ENSP00000435712:T234M	ENSP00000259090:T232M	T	+	2	0	GATA4	11643918	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	7.546000	0.82137	2.793000	0.96121	0.655000	0.94253	ACG		0.587	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		4	87	0	0	0	1	0	4	87				
GLB1L3	112937	broad.mit.edu	37	11	134183876	134183876	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr11:134183876G>T	ENST00000431683.2	+	17	1621	c.1621G>T	c.(1621-1623)Ggc>Tgc	p.G541C		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	541					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTCCCTGGAGGGCTTTACCAT	0.488																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1621-1623)Ggc>Tgc		galactosidase, beta 1-like 3							83.0	78.0	80.0					11																	134183876		1898	4125	6023	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134183876G>T		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1621G>T	11.37:g.134183876G>T	ENSP00000396615:p.Gly541Cys						p.G541C	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	17	1621	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	541					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1621G>T	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500048	0.44455	.	.	ENSG00000166105	ENST00000431683	D	0.95724	-3.79	4.78	-4.53	0.03462	Galactose-binding domain-like (1);	1.474610	0.03748	N	0.256133	D	0.95680	0.8595	M	0.75777	2.31	0.09310	N	1	D	0.57899	0.981	P	0.54759	0.76	D	0.89515	0.3774	10	0.62326	D	0.03	.	5.3221	0.15887	0.5683:0.0:0.1738:0.2578	.	541	Q8NCI6	GLBL3_HUMAN	C	541	ENSP00000396615:G541C	ENSP00000396615:G541C	G	+	1	0	GLB1L3	133689086	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.009000	0.12765	-0.733000	0.04850	-0.253000	0.11424	GGC		0.488	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		4	23	1	0	1.23904e-05	1	1.33816e-05	4	23				
BCAS1	8537	broad.mit.edu	37	20	52674691	52674691	+	Silent	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr20:52674691G>A	ENST00000395961.3	-	3	241	c.75C>T	c.(73-75)gaC>gaT	p.D25D	BCAS1_ENST00000371435.2_Silent_p.D25D|BCAS1_ENST00000371440.3_Silent_p.D25D|BCAS1_ENST00000411563.1_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	25						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAGACGCGTTGTCCTGAAACA	0.502																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(73-75)gaC>gaT		breast carcinoma amplified sequence 1							70.0	57.0	61.0					20																	52674691		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52674691G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.75C>T	20.37:g.52674691G>A						BCAS1_ENST00000371440.3_Silent_p.D25D|BCAS1_ENST00000411563.1_Intron|BCAS1_ENST00000371435.2_Silent_p.D25D	p.D25D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		3	241	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		25					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.75C>T	CCDS13444.1																																																																																				0.502	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		11	46	0	0	0	1	0	11	46				
PRKD1	5587	broad.mit.edu	37	14	30047543	30047543	+	Silent	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr14:30047543G>A	ENST00000331968.5	-	17	2687	c.2458C>T	c.(2458-2460)Ctg>Ttg	p.L820L	PRKD1_ENST00000415220.2_Silent_p.L828L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTTACTTGCAGCAAATTGTTG	0.333																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2458-2460)Ctg>Ttg		protein kinase D1							75.0	73.0	74.0					14																	30047543		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30047543G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2458C>T	14.37:g.30047543G>A						PRKD1_ENST00000415220.2_Silent_p.L828L	p.L820L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	17	2687	-	Hepatocellular(127;0.0604)		820			Protein kinase.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2458C>T	CCDS9637.1																																																																																				0.333	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		29	35	0	0	0	1	0	29	35				
IGHG2	3501	broad.mit.edu	37	14	106109985	106109985	+	RNA	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr14:106109985G>A	ENST00000390545.2	-	0	632							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGGTTTTCTCGATGGGGGCTG	0.627																																						ENST00000390545.2																			0																				184.0	183.0	183.0					14																	106109985		2023	4181	6204			3501							g.chr14:106109985G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106109985G>A														0	632	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.627	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		10	316	0	0	0	1	0	10	316				
MUC5B	727897	broad.mit.edu	37	11	1263681	1263681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr11:1263681C>A	ENST00000529681.1	+	31	5629	c.5571C>A	c.(5569-5571)tgC>tgA	p.C1857*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1860*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1857	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTGACCTGCAAGAACGAAG	0.592																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5578-5580)tgC>tgA		mucin 5B, oligomeric mucus/gel-forming							55.0	73.0	67.0					11																	1263681		2184	4272	6456	SO:0001587	stop_gained	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263681C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5571C>A	11.37:g.1263681C>A	ENSP00000436812:p.Cys1857*					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.C1857*	p.C1860*			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5638	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1857			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	37	c.5580C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	44	11.112106	0.99517	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.64	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.6687	0.34137	0.0:0.7589:0.0:0.2411	.	.	.	.	X	1857;1860;1858;1927	.	ENSP00000343037:C1858X	C	+	3	2	MUC5B	1220257	0.003000	0.15002	0.021000	0.16686	0.027000	0.11550	0.030000	0.13688	0.395000	0.25257	0.306000	0.20318	TGC		0.592	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	40	1	0	0.115264	1	0.115264	3	40				
APOL2	23780	broad.mit.edu	37	22	36624072	36624072	+	Missense_Mutation	SNP	G	G	C	rs545596762		TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:36624072G>C	ENST00000249066.6	-	6	868	c.392C>G	c.(391-393)aCc>aGc	p.T131S	APOL2_ENST00000451256.2_Missense_Mutation_p.T243S|APOL2_ENST00000358502.5_Missense_Mutation_p.T131S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	131					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCCGAGGAGGGTCAGGATGCC	0.582																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(391-393)aCc>aGc		apolipoprotein L, 2							74.0	83.0	80.0					22																	36624072		2201	4296	6497	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624072G>C	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.392C>G	22.37:g.36624072G>C	ENSP00000249066:p.Thr131Ser					APOL2_ENST00000358502.5_Missense_Mutation_p.T131S|APOL2_ENST00000451256.2_Missense_Mutation_p.T243S	p.T131S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	868	-			131					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.392C>G	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	1.766	-0.485622	0.04352	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.03801	3.8;3.8;3.8	3.57	-7.15	0.01521	.	0.671823	0.15529	N	0.257588	T	0.02455	0.0075	N	0.11154	0.105	0.09310	N	1	B;B	0.26445	0.149;0.021	B;B	0.25140	0.058;0.019	T	0.24154	-1.0168	10	0.06757	T	0.87	.	20.0245	0.97517	0.0:0.7352:0.2648:0.0	.	243;131	B4E1T5;Q9BQE5	.;APOL2_HUMAN	S	131;131;243	ENSP00000351292:T131S;ENSP00000249066:T131S;ENSP00000403153:T243S	ENSP00000249066:T131S	T	-	2	0	APOL2	34954018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.615000	0.00882	-1.838000	0.01187	-1.963000	0.00474	ACC		0.582	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		16	48	0	0	0	1	0	16	48				
OTOP1	133060	broad.mit.edu	37	4	4199407	4199407	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr4:4199407G>A	ENST00000296358.4	-	5	1178	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	385					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTGCGGGCCGGATTTTTGGA	0.587																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1153-1155)cCg>cTg		otopetrin 1							44.0	50.0	48.0					4																	4199407		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199407G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1154C>T	4.37:g.4199407G>A	ENSP00000296358:p.Pro385Leu						p.P385L	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1178	-			385					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1154C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157928	0.57368	.	.	ENSG00000163982	ENST00000296358	T	0.21361	2.01	4.9	4.9	0.64082	.	0.286130	0.39341	N	0.001392	T	0.52075	0.1712	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59825	-0.7381	10	0.87932	D	0	-0.9908	18.4591	0.90732	0.0:0.0:1.0:0.0	.	385	Q7RTM1	OTOP1_HUMAN	L	385	ENSP00000296358:P385L	ENSP00000296358:P385L	P	-	2	0	OTOP1	4250308	1.000000	0.71417	0.962000	0.40283	0.009000	0.06853	8.967000	0.93402	2.435000	0.82474	0.404000	0.27445	CCG		0.587	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		5	69	0	0	0	1	0	5	69				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	63	0	0	0	1	0	4	63				
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aaafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(571-573)aafs		Sjogren syndrome antigen B (autoantigen La)							82.0	82.0	82.0					2																	170665008		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665008delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.571delA	2.37:g.170665008delA	ENSP00000386636:p.Lys192fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs	p.K192fs			P05455	LA_HUMAN			7	818	+			192					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.571delA	CCDS2237.1																																																																																				0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		7	121						7	121	---	---	---	---
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaggaa>gaa	p.27_28EE>E	SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(79-84)gaa>ga		SH3-domain binding protein 5 (BTK-associated)			,	55,4009		2,51,1979					,	1.1	0.1			22	132,7808		3,126,3841	no	coding,intron	SH3BP5	NM_004844.3,NM_001018009.2	,	5,177,5820	A1A1,A1R,RR		1.6625,1.3533,1.5578	,	,		187,11817				SO:0001651	inframe_deletion	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15373833_15373835delTCC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.81_83delGGA	3.37:g.15373842_15373844delTCC	ENSP00000373301:p.Glu29del					SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000253688.5_5'UTR	p.EE27del	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			1	301_303	-			27			Glu-rich.		B3KQW6|Q5JWV9	In_Frame_Del	DEL	ENST00000383791.3	37	c.81_83delGGA	CCDS2625.2																																																																																				0.719	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		3	5						3	5	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32444350	32444352	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr5:32444350_32444352delGCC	ENST00000265069.8	-	2	222_224	c.120_122delGGC	c.(118-123)gcggct>gct	p.40_41AA>A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	40	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTGGgccgcagccgccgccgccg	0.68																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(118-123)gct>gc		zinc finger RNA binding protein				118,3428		11,96,1666						1.3	1.0			14	258,6868		26,206,3331	no	coding	ZFR	NM_016107.3		37,302,4997	A1A1,A1R,RR		3.6205,3.3277,3.5232				376,10296				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32444350_32444352delGCC	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.120_122delGGC	5.37:g.32444359_32444361delGCC	ENSP00000265069:p.Ala43del						p.AA42del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	2	222_224	-			42			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.120_122delGGC	CCDS34139.1																																																																																				0.680	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			2	4						2	4	---	---	---	---
FABP5P3	220832	broad.mit.edu	37	7	152140121	152140121	+	RNA	DEL	T	T	-			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr7:152140121delT	ENST00000477993.1	+	0	876					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										TGTTTCTTTCTTTTTTTTTTC	0.328																																						ENST00000477993.1																			0																																																			220832							g.chr7:152140121delT			7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152140121delT								NR_002935.1						0	876	+									RNA	DEL	ENST00000477993.1	37																																																																																						0.328	FABP5P3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000348208.1	NR_002935		2	4						2	4	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33217043	33217045	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr10:33217043_33217045delTCC	ENST00000396033.2	-	5	659_661	c.524_526delGGA	c.(523-528)aggatt>att	p.R175del	ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000302278.3_In_Frame_Del_p.R175del|ITGB1_ENST00000423113.1_In_Frame_Del_p.R175del|ITGB1_ENST00000374956.4_In_Frame_Del_p.R175del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	175	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TCCGAAGTAATCCTCCTCATTTC	0.355																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(523-528)att>a		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)																																				SO:0001651	inframe_deletion	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33217043_33217045delTCC	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.524_526delGGA	10.37:g.33217046_33217048delTCC	ENSP00000379350:p.Arg175del					ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_In_Frame_Del_p.RI175del|ITGB1_ENST00000302278.3_In_Frame_Del_p.RI175del|ITGB1_ENST00000374956.4_In_Frame_Del_p.RI175del	p.RI175del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			5	659_661	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	175			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	In_Frame_Del	DEL	ENST00000396033.2	37	c.524_526delGGA	CCDS7174.1																																																																																				0.355	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		45	107						45	107	---	---	---	---
CBL	867	broad.mit.edu	37	11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)cacdel	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42	Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(106-108)del		Cbl proto-oncogene, E3 ubiquitin protein ligase				27,80,3153		5,0,17,5,70,1533						-0.3	1.0			11	13,198,6595		2,0,9,20,158,3214	no	codingComplex	CBL	NM_005188.2		7,0,26,25,228,4747	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1002,3.2822,3.1591				40,278,9748				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119077233_119077235delCAC	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.106_108delCAC	11.37:g.119077242_119077244delCAC	ENSP00000264033:p.His42del						p.H42del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	1	482_484	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	42					A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.106_108delCAC	CCDS8418.1																																																																																				0.675	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		2	4						2	4	---	---	---	---
snoU13	0	broad.mit.edu	37	13	20449422	20449423	+	RNA	INS	-	-	A	rs202137571		TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr13:20449422_20449423insA	ENST00000459056.1	+	0	96_97																											gcacattactgaaaaaaaaaat	0.446																																						ENST00000459056.1																			0																																																			0							g.chr13:20449422_20449423insA																													13.37:g.20449432_20449432dupA														0	96_97	+									RNA	INS	ENST00000459056.1	37																																																																																						0.446	snoU13.182-201	NOVEL	basic	snoRNA	snoRNA				3	4						3	4	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-RW-A686-06A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	779079b5-a036-417c-8bbe-903d3272bce9	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384					ENST00000426585.1																			0																																																			387590							g.chr22:17131536_17131537insCTG			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG														0	2562_2563	+									RNA	INS	ENST00000426585.1	37																																																																																						0.540	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	4						3	4	---	---	---	---
