#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
MYOM1	8736	broad.mit.edu	37	18	3094299	3094299	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:3094299G>C	ENST00000356443.4	-	26	4066	c.3733C>G	c.(3733-3735)Cca>Gca	p.P1245A	MYOM1_ENST00000261606.7_Missense_Mutation_p.P1149A|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.P1245A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1245					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATTTAACTGGGACAGCTATG	0.358																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3733-3735)Cca>Gca		myomesin 1							45.0	43.0	43.0					18																	3094299		1811	4075	5886	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3094299G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3733C>G	18.37:g.3094299G>C	ENSP00000348821:p.Pro1245Ala					MYOM1_ENST00000261606.7_Missense_Mutation_p.P1149A|MYOM1_ENST00000356443.4_Missense_Mutation_p.P1245A	p.P1245A			P52179	MYOM1_HUMAN			26	4066	-			1245					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3733C>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979130	0.53827	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04758	3.56;3.56;3.56	5.55	4.67	0.58626	.	0.097634	0.64402	N	0.000001	T	0.11153	0.0272	M	0.80183	2.485	0.80722	D	1	P;B	0.39624	0.681;0.012	B;B	0.38458	0.274;0.016	T	0.02885	-1.1098	10	0.62326	D	0.03	.	16.5653	0.84577	0.0:0.1304:0.8696:0.0	.	1149;1245	P52179-2;P52179	.;MYOM1_HUMAN	A	1245;1245;1149	ENSP00000348821:P1245A;ENSP00000383413:P1245A;ENSP00000261606:P1149A	ENSP00000261606:P1149A	P	-	1	0	MYOM1	3084299	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.758000	0.85224	1.557000	0.49525	0.655000	0.94253	CCA		0.358	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	13	0	0	0	1	0	8	13				
LRCH4	4034	broad.mit.edu	37	7	100179757	100179757	+	Silent	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:100179757G>A	ENST00000310300.6	-	3	451	c.399C>T	c.(397-399)atC>atT	p.I133I	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	133					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGCTGGCAGATGTAGGGTG	0.637																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(397-399)atC>atT		leucine-rich repeats and calponin homology (CH) domain containing 4							52.0	56.0	55.0					7																	100179757		2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100179757G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.399C>T	7.37:g.100179757G>A						LRCH4_ENST00000497245.1_5'UTR	p.I133I	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			3	451	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		133					A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.399C>T	CCDS34706.1																																																																																				0.637	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		8	33	0	0	0	1	0	8	33				
ORC5	5001	broad.mit.edu	37	7	103844611	103844611	+	Silent	SNP	T	T	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:103844611T>C	ENST00000297431.4	-	2	286	c.144A>G	c.(142-144)caA>caG	p.Q48Q	ORC5_ENST00000447452.2_Silent_p.Q48Q|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	48					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCAACAACGTTTGTGTTACAT	0.303																																						ENST00000297431.4																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(142-144)caA>caG		origin recognition complex, subunit 5							67.0	68.0	67.0					7																	103844611		2201	4299	6500	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103844611T>C		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.144A>G	7.37:g.103844611T>C						ORC5_ENST00000447452.2_Silent_p.Q48Q|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR	p.Q48Q	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN			2	286	-			48					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.144A>G	CCDS5734.1																																																																																				0.303	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		23	43	0	0	0	1	0	23	43				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	79	0	0	0	1	0	4	79				
SERPINB5	5268	broad.mit.edu	37	18	61156685	61156685	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:61156685G>T	ENST00000382771.4	+	4	704	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	SERPINB5_ENST00000489441.1_Missense_Mutation_p.D138Y	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	138					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CTCAATTAAGGATCTCACAGA	0.383																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(412-414)Gat>Tat		serpin peptidase inhibitor, clade B (ovalbumin), member 5							120.0	112.0	115.0					18																	61156685		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61156685G>T	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.412G>T	18.37:g.61156685G>T	ENSP00000372221:p.Asp138Tyr					SERPINB5_ENST00000489441.1_Missense_Mutation_p.D138Y	p.D138Y	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			4	704	+			138					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.412G>T	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758263	0.69763	.	.	ENSG00000206075	ENST00000382771	D	0.84873	-1.91	5.75	5.75	0.90469	Serpin domain (3);	0.416076	0.25830	N	0.028037	D	0.91112	0.7202	M	0.73962	2.25	0.45415	D	0.998392	P;D	0.58970	0.885;0.984	P;P	0.57204	0.772;0.815	D	0.91283	0.5053	10	0.72032	D	0.01	.	19.907	0.97012	0.0:0.0:1.0:0.0	.	138;138	P36952;P36952-2	SPB5_HUMAN;.	Y	138	ENSP00000372221:D138Y	ENSP00000372221:D138Y	D	+	1	0	SERPINB5	59307665	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.874000	0.56101	2.880000	0.98712	0.655000	0.94253	GAT		0.383	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		3	44	1	0	0.000602214	1	0.000630224	3	44				
MARK3	4140	broad.mit.edu	37	14	103871417	103871417	+	Missense_Mutation	SNP	C	C	G	rs375599947		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr14:103871417C>G	ENST00000429436.2	+	2	566	c.56C>G	c.(55-57)aCg>aGg	p.T19R	MARK3_ENST00000416682.2_Missense_Mutation_p.T19R|MARK3_ENST00000440884.3_Missense_Mutation_p.T19R|MARK3_ENST00000553942.1_Missense_Mutation_p.T19R|MARK3_ENST00000303622.9_Missense_Mutation_p.T19R|MARK3_ENST00000335102.5_Missense_Mutation_p.T19R|MARK3_ENST00000216288.7_Missense_Mutation_p.T19R	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	19						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTGCAGCACACGTCACATGGA	0.448																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(55-57)aCg>aGg		MAP/microtubule affinity-regulating kinase 3							80.0	78.0	79.0					14																	103871417		1888	4117	6005	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103871417C>G	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.56C>G	14.37:g.103871417C>G	ENSP00000411397:p.Thr19Arg					MARK3_ENST00000440884.3_Missense_Mutation_p.T19R|MARK3_ENST00000216288.7_Missense_Mutation_p.T19R|MARK3_ENST00000553942.1_Missense_Mutation_p.T19R|MARK3_ENST00000416682.2_Missense_Mutation_p.T19R|MARK3_ENST00000335102.5_Missense_Mutation_p.T19R|MARK3_ENST00000303622.9_Missense_Mutation_p.T19R	p.T19R	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		2	566	+		Melanoma(154;0.155)	19					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.56C>G	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306610	0.40795	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T;T	0.73152	-0.69;-0.3;-0.63;-0.64;-0.62;-0.72;-0.64	5.23	4.33	0.51752	.	0.101283	0.64402	D	0.000002	T	0.80160	0.4572	M	0.74881	2.28	0.52501	D	0.999956	P;D;B;D;B;P	0.57257	0.601;0.979;0.052;0.967;0.087;0.953	D;P;B;P;B;P	0.63957	0.92;0.831;0.046;0.627;0.076;0.664	T	0.77446	-0.2585	10	0.20046	T	0.44	.	12.8149	0.57658	0.0:0.9199:0.0:0.0801	.	19;19;19;19;19;19	P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.;.	R	19	ENSP00000335347:T19R;ENSP00000402104:T19R;ENSP00000408092:T19R;ENSP00000411397:T19R;ENSP00000303698:T19R;ENSP00000216288:T19R;ENSP00000450772:T19R	ENSP00000216288:T19R	T	+	2	0	MARK3	102941170	0.986000	0.35501	1.000000	0.80357	0.926000	0.56050	2.697000	0.47060	1.168000	0.42723	0.650000	0.86243	ACG		0.448	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		14	30	0	0	0	1	0	14	30				
FAM98A	25940	broad.mit.edu	37	2	33820568	33820568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:33820568G>A	ENST00000238823.8	-	2	330	c.190C>T	c.(190-192)Caa>Taa	p.Q64*	FAM98A_ENST00000403368.1_Nonsense_Mutation_p.Q64*|FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	64							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TTAGTTGCTTGCACGTTTTCC	0.393																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(190-192)Caa>Taa		family with sequence similarity 98, member A							110.0	106.0	108.0					2																	33820568		2203	4300	6503	SO:0001587	stop_gained	25940							g.chr2:33820568G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.190C>T	2.37:g.33820568G>A	ENSP00000238823:p.Gln64*					FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Nonsense_Mutation_p.Q64*	p.Q64*	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			2	259	-	all_hematologic(175;0.115)		64					B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP	ENST00000238823.8	37	c.190C>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803359	0.90623	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368;ENST00000431950	.	.	.	6.16	6.16	0.99307	.	0.118477	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-9.5393	16.2434	0.82429	0.0:0.1318:0.8682:0.0	.	.	.	.	X	64	.	ENSP00000238823:Q64X	Q	-	1	0	FAM98A	33674072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.362000	0.73077	2.937000	0.99478	0.650000	0.86243	CAA		0.393	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		20	58	0	0	0	1	0	20	58				
DHX29	54505	broad.mit.edu	37	5	54557260	54557260	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr5:54557260C>A	ENST00000251636.5	-	25	4044	c.3896G>T	c.(3895-3897)gGt>gTt	p.G1299V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1299						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TATATCACCACCAAAAAGTAA	0.353																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3895-3897)gGt>gTt		DEAH (Asp-Glu-Ala-His) box polypeptide 29							91.0	95.0	93.0					5																	54557260		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54557260C>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3896G>T	5.37:g.54557260C>A	ENSP00000251636:p.Gly1299Val					RP11-506H20.1_ENST00000506435.1_RNA	p.G1299V	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			25	4044	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1299					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3896G>T	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848342	0.91277	.	.	ENSG00000067248	ENST00000251636	T	0.06933	3.24	5.86	5.86	0.93980	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34750	-0.9816	10	0.66056	D	0.02	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	1299	Q7Z478	DHX29_HUMAN	V	1299	ENSP00000251636:G1299V	ENSP00000251636:G1299V	G	-	2	0	DHX29	54593017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.993000	0.76245	2.937000	0.99478	0.650000	0.86243	GGT		0.353	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		5	88	1	0	0.000602214	1	0.000630224	5	88				
USP46	64854	broad.mit.edu	37	4	53494320	53494320	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr4:53494320G>C	ENST00000441222.3	-	3	312	c.128C>G	c.(127-129)aCa>aGa	p.T43R	USP46_ENST00000508499.1_Missense_Mutation_p.T36R|USP46_ENST00000451218.2_Missense_Mutation_p.T16R|USP46_ENST00000504078.1_5'Flank	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	43	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACAGTAGCATGTGTTTCCAAA	0.517																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(127-129)aCa>aGa		ubiquitin specific peptidase 46							72.0	67.0	69.0					4																	53494320		2056	4214	6270	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53494320G>C	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.128C>G	4.37:g.53494320G>C	ENSP00000407818:p.Thr43Arg					USP46_ENST00000508499.1_Missense_Mutation_p.T36R|USP46_ENST00000451218.2_Missense_Mutation_p.T16R	p.T43R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		3	312	-			43					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.128C>G	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624913	0.87560	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.10668	2.85;2.85;2.85	4.72	4.72	0.59763	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.196759	0.35772	N	0.002987	T	0.56761	0.2007	H	0.99877	4.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79027	-0.1971	10	0.87932	D	0	-10.9414	17.2242	0.86965	0.0:0.0:1.0:0.0	.	43;36	P62068;P62068-3	UBP46_HUMAN;.	R	43;16;36	ENSP00000407818:T43R;ENSP00000390102:T16R;ENSP00000423244:T36R	ENSP00000407818:T43R	T	-	2	0	USP46	53189077	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	9.503000	0.97984	2.618000	0.88619	0.655000	0.94253	ACA		0.517	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		6	31	0	0	0	1	0	6	31				
LAIR2	3904	broad.mit.edu	37	19	55019333	55019333	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:55019333C>T	ENST00000301202.2	+	3	420	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	LAIR2_ENST00000351841.2_Missense_Mutation_p.R100C	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	100	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CGGGCTTTATCGCTGCCTCTA	0.502																																						ENST00000301202.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18						c.(298-300)Cgc>Tgc		leukocyte-associated immunoglobulin-like receptor 2							121.0	112.0	115.0					19																	55019333		2203	4300	6503	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55019333C>T	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.298C>T	19.37:g.55019333C>T	ENSP00000301202:p.Arg100Cys					LAIR2_ENST00000351841.2_Missense_Mutation_p.R100C	p.R100C	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	420	+	Ovarian(34;0.19)		100			Ig-like C2-type.		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.298C>T	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797964	0.50208	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.14266	2.52;2.52	3.63	-7.25	0.01470	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.847140	0.02895	N	0.134581	T	0.30230	0.0758	M	0.86573	2.825	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.62885	0.855;0.908	T	0.56571	-0.7957	9	.	.	.	.	0.1602	0.00102	0.2581:0.176:0.2568:0.3091	.	100;100	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	C	100	ENSP00000301202:R100C;ENSP00000301203:R100C	.	R	+	1	0	LAIR2	59711145	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.253000	0.02877	-1.354000	0.02188	0.313000	0.20887	CGC		0.502	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			33	65	0	0	0	1	0	33	65				
MYBPC1	4604	broad.mit.edu	37	12	102053480	102053480	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:102053480A>G	ENST00000550270.1	+	17	1723	c.1723A>G	c.(1723-1725)Aca>Gca	p.T575A	MYBPC1_ENST00000360610.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T476A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.T549A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T562A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.T561A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T563A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T556A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.T588A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T575A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	575	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCGGATAAGAACAGAATCTTA	0.423																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(1762-1764)Aca>Gca		myosin binding protein C, slow type							125.0	112.0	117.0					12																	102053480		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102053480A>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1723A>G	12.37:g.102053480A>G	ENSP00000449702:p.Thr575Ala					MYBPC1_ENST00000547509.1_Missense_Mutation_p.T561A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.T549A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T563A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T556A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T562A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T476A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.T575A	p.T588A			Q00872	MYPC1_HUMAN			18	1862	+			575			Ig-like C2-type 5.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1762A>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	8.036	0.762766	0.15914	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.42	0.32	0.15878	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261294	0.26816	N	0.022348	T	0.26593	0.0650	N	0.02103	-0.685	0.20638	N	0.999871	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0	T	0.18681	-1.0329	10	0.16420	T	0.52	.	5.4905	0.16773	0.1973:0.0:0.5604:0.2423	.	556;563;575;575;562;549;575;575;600;600	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	549;575;575;575;562;561;600;588;575;600;575;556;563;600;476;575	ENSP00000448175:T549A;ENSP00000400908:T575A;ENSP00000388989:T575A;ENSP00000353822:T575A;ENSP00000376665:T562A;ENSP00000447362:T561A;ENSP00000354845:T600A;ENSP00000447660:T588A;ENSP00000447900:T575A;ENSP00000440034:T575A;ENSP00000446128:T556A;ENSP00000442847:T563A;ENSP00000354849:T600A;ENSP00000447116:T476A;ENSP00000449702:T575A	ENSP00000353822:T575A	T	+	1	0	MYBPC1	100577611	0.979000	0.34478	0.835000	0.33067	0.837000	0.47467	2.639000	0.46570	-0.215000	0.10063	-0.132000	0.14878	ACA		0.423	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			24	39	0	0	0	1	0	24	39				
OR10H3	26532	broad.mit.edu	37	19	15852910	15852910	+	Silent	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:15852910G>A	ENST00000305892.1	+	1	708	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGAGGGCCGGCACAAGACTT	0.502																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(706-708)cgG>cgA		olfactory receptor, family 10, subfamily H, member 3							218.0	192.0	201.0					19																	15852910		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852910G>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.708G>A	19.37:g.15852910G>A							p.R236R	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	708	+			236					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.708G>A	CCDS12334.1																																																																																				0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			4	117	0	0	0	1	0	4	117				
EWSR1	2130	broad.mit.edu	37	22	29682971	29682971	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr22:29682971A>T	ENST00000397938.2	+	7	960	c.641A>T	c.(640-642)tAt>tTt	p.Y214F	EWSR1_ENST00000414183.2_Missense_Mutation_p.Y220F|EWSR1_ENST00000332035.6_Missense_Mutation_p.Y158F|EWSR1_ENST00000332050.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000406548.1_Missense_Mutation_p.Y214F|EWSR1_ENST00000333395.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000331029.7_Missense_Mutation_p.Y214F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	214	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAACACCTATGGGCAACCG	0.463			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(640-642)tAt>tTt		EWS RNA-binding protein 1							98.0	93.0	94.0					22																	29682971		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29682971A>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.641A>T	22.37:g.29682971A>T	ENSP00000381031:p.Tyr214Phe					EWSR1_ENST00000406548.1_Missense_Mutation_p.Y214F|EWSR1_ENST00000331029.7_Missense_Mutation_p.Y214F|EWSR1_ENST00000332050.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000414183.2_Missense_Mutation_p.Y220F|EWSR1_ENST00000333395.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000332035.6_Missense_Mutation_p.Y158F	p.Y214F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			7	960	+			214			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.641A>T	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059518	0.76074	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	D;D;D;D;D;D	0.97688	-4.23;-3.74;-3.96;-4.49;-3.9;-3.76	5.7	5.7	0.88788	.	0.000000	0.64402	U	0.000002	D	0.98102	0.9374	M	0.68952	2.095	0.52099	D	0.999947	D;D;D;D;D	0.63880	0.993;0.993;0.993;0.993;0.974	D;D;D;D;D	0.67725	0.935;0.935;0.935;0.935;0.953	D	0.97994	1.0356	10	0.19147	T	0.46	.	15.9662	0.79974	1.0:0.0:0.0:0.0	.	214;158;220;214;214	Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;EWS_HUMAN;.	F	214;214;214;215;139;214;220;214;158;158	ENSP00000330896:Y214F;ENSP00000381031:Y214F;ENSP00000385726:Y214F;ENSP00000330516:Y214F;ENSP00000400142:Y220F;ENSP00000331699:Y158F	ENSP00000330516:Y214F	Y	+	2	0	EWSR1	28012971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.753000	0.74904	2.170000	0.68504	0.533000	0.62120	TAT		0.463	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		17	47	0	0	0	1	0	17	47				
ETV3	2117	broad.mit.edu	37	1	157105317	157105317	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:157105317C>T	ENST00000368192.4	-	3	294	c.230G>A	c.(229-231)gGc>gAc	p.G77D	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.G77D	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	77					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTTCCTGCGGCCCCAGAGGCG	0.532																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(229-231)gGc>gAc		ets variant 3							44.0	48.0	47.0					1																	157105317		2202	4297	6499	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105317C>T	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.230G>A	1.37:g.157105317C>T	ENSP00000357175:p.Gly77Asp					ETV3_ENST00000326786.4_Missense_Mutation_p.G77D|ETV3_ENST00000460850.1_5'UTR	p.G77D	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	294	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	77					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.230G>A	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558204	0.86231	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	D	0.000001	D	0.93697	0.7986	M	0.93420	3.415	0.80722	D	1	P;D	0.55172	0.918;0.97	P;D	0.65573	0.683;0.936	D	0.94786	0.7958	10	0.87932	D	0	.	18.1187	0.89564	0.0:1.0:0.0:0.0	.	77;77	P41162-2;P41162	.;ETV3_HUMAN	D	77	ENSP00000357175:G77D;ENSP00000327316:G77D	ENSP00000327316:G77D	G	-	2	0	ETV3	155371941	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.726000	0.84824	2.647000	0.89833	0.655000	0.94253	GGC		0.532	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		5	32	0	0	0	1	0	5	32				
LOC645752	645752	broad.mit.edu	37	15	78217296	78217296	+	lincRNA	SNP	A	A	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr15:78217296A>G	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							GTGAGTGGCAACCACCAGAAG	0.527																																						ENST00000567226.1																			0																																																			0							g.chr15:78217296A>G																													15.37:g.78217296A>G														0	206	-									RNA	SNP	ENST00000565869.1	37																																																																																						0.527	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	54	0	0	0	1	0	4	54				
OR8D1	283159	broad.mit.edu	37	11	124179754	124179754	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:124179754C>T	ENST00000357821.2	-	1	979	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTACTAAGACCTTCCTTAATG	0.378																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(907-909)aaG>aaA		olfactory receptor, family 8, subfamily D, member 1							99.0	99.0	99.0					11																	124179754		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179754C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.909G>A	11.37:g.124179754C>T							p.K303K	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	979	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	303					B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.909G>A	CCDS31706.1																																																																																				0.378	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		10	31	0	0	0	1	0	10	31				
ITGAL	3683	broad.mit.edu	37	16	30529130	30529130	+	Missense_Mutation	SNP	G	G	A	rs557551761		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr16:30529130G>A	ENST00000356798.6	+	28	3226	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R	ITGAL_ENST00000433423.2_Missense_Mutation_p.G250R|ITGAL_ENST00000358164.5_Missense_Mutation_p.G932R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1016					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TTGTCTCCCCGGAGCCCTGTT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17450	0.0		0.001	False		,,,				2504	0.0				NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3046-3048)Gga>Aga		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						112.0	108.0	110.0					16																	30529130		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30529130G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3046G>A	16.37:g.30529130G>A	ENSP00000349252:p.Gly1016Arg					ITGAL_ENST00000358164.5_Missense_Mutation_p.G932R|ITGAL_ENST00000433423.2_Missense_Mutation_p.G250R	p.G1016R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			28	3226	+			1016					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.3046G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667397	0.47677	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.57595	0.39;0.74;1.95	5.13	1.99	0.26369	.	0.399666	0.21424	N	0.074777	T	0.48589	0.1508	L	0.47716	1.5	0.09310	N	1	D;P;P	0.63046	0.992;0.73;0.861	P;B;B	0.51487	0.671;0.282;0.373	T	0.36114	-0.9761	10	0.46703	T	0.11	.	4.6082	0.12389	0.1835:0.0:0.6435:0.173	.	250;932;1016	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	R	1016;932;250	ENSP00000349252:G1016R;ENSP00000350886:G932R;ENSP00000409377:G250R	ENSP00000349252:G1016R	G	+	1	0	ITGAL	30436631	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	0.266000	0.18534	0.283000	0.22279	-0.251000	0.11542	GGA		0.637	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			33	77	0	0	0	1	0	33	77				
SYNRG	11276	broad.mit.edu	37	17	35900638	35900638	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:35900638G>T	ENST00000339208.6	-	16	3350	c.3210C>A	c.(3208-3210)caC>caA	p.H1070Q	SYNRG_ENST00000585472.1_Missense_Mutation_p.H991Q|SYNRG_ENST00000502449.2_Missense_Mutation_p.H947Q|SYNRG_ENST00000394378.2_Missense_Mutation_p.H992Q|SYNRG_ENST00000591288.1_Missense_Mutation_p.H864Q|SYNRG_ENST00000345615.4_Missense_Mutation_p.H992Q|SYNRG_ENST00000346661.4_Missense_Mutation_p.H1070Q	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1070					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTCCTCTTGTGTGATCCTG	0.463																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3208-3210)caC>caA		synergin, gamma							79.0	83.0	81.0					17																	35900638		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35900638G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3210C>A	17.37:g.35900638G>T	ENSP00000343610:p.His1070Gln					SYNRG_ENST00000591288.1_Missense_Mutation_p.H864Q|SYNRG_ENST00000346661.4_Missense_Mutation_p.H1070Q|SYNRG_ENST00000585472.1_Missense_Mutation_p.H991Q|SYNRG_ENST00000345615.4_Missense_Mutation_p.H992Q|SYNRG_ENST00000502449.2_Missense_Mutation_p.H947Q|SYNRG_ENST00000394378.2_Missense_Mutation_p.H992Q	p.H1070Q	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			16	3350	-			1070					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3210C>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692252	0.68271	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.53423	1.16;0.62	5.3	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.997;0.997	T	0.61898	-0.6968	10	0.62326	D	0.03	-9.6509	5.6946	0.17849	0.2549:0.0:0.7451:0.0	.	864;992;992;992;1070;1070	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	Q	1070;864;1070;992;992	ENSP00000005279:H1070Q;ENSP00000377903:H992Q	ENSP00000343610:H864Q	H	-	3	2	SYNRG	32974751	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.950000	0.29122	2.475000	0.83589	0.563000	0.77884	CAC		0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	52	1	0	1.37285e-15	1	1.54446e-15	14	52				
ZFHX4	79776	broad.mit.edu	37	8	77765581	77765581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr8:77765581A>T	ENST00000521891.2	+	10	6872	c.6424A>T	c.(6424-6426)Aaa>Taa	p.K2142*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K2097*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K2116*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K2097*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2097					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGATCAGCTAAAAATCCTGAG	0.423										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(6424-6426)Aaa>Taa		zinc finger homeobox 4							43.0	42.0	42.0					8																	77765581		1852	4091	5943	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765581A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6424A>T	8.37:g.77765581A>T	ENSP00000430497:p.Lys2142*	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K2097*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K2116*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K2097*	p.K2142*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6872	+			2097					G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.6424A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	48	14.525352	0.99799	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	3.92	2.74	0.32292	.	0.000000	0.45606	U	0.000349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	9.1542	0.36983	0.9097:0.0:0.0903:0.0	.	.	.	.	X	2142;2126;2097;2097;2116	.	ENSP00000050961:K2097X	K	+	1	0	ZFHX4	77928136	1.000000	0.71417	0.842000	0.33263	0.961000	0.63080	6.955000	0.76007	0.671000	0.31185	0.374000	0.22700	AAA		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	21	0	0	0	1	0	5	21				
CRYGC	1420	broad.mit.edu	37	2	208993062	208993062	+	Silent	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:208993062G>A	ENST00000282141.3	-	3	427	c.390C>T	c.(388-390)tgC>tgT	p.C130C		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	130	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGAGGACCCAGCAGCCCTCCA	0.632																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(388-390)tgC>tgT		crystallin, gamma C							56.0	54.0	55.0					2																	208993062		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208993062G>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.390C>T	2.37:g.208993062G>A							p.C130C	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	427	-			130			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.390C>T	CCDS2379.1																																																																																				0.632	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		18	35	0	0	0	1	0	18	35				
VTN	7448	broad.mit.edu	37	17	26697015	26697015	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:26697015C>G	ENST00000226218.4	-	2	735	c.117G>C	c.(115-117)caG>caC	p.Q39H	VTN_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	39	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GCTCGTCACACTGGCACTTCT	0.592																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(115-117)caG>caC		vitronectin	Urokinase(DB00013)						108.0	106.0	107.0					17																	26697015		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26697015C>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.117G>C	17.37:g.26697015C>G	ENSP00000226218:p.Gln39His					SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	p.Q39H	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	735	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		39			SMB.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.117G>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504182	0.64410	.	.	ENSG00000255604	ENST00000226218;ENST00000542029	T;T	0.45276	0.9;0.9	5.77	2.68	0.31781	Somatomedin B domain (4);Somatomedin B, chordata (1);	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53187	-0.8474	10	0.87932	D	0	-26.3686	10.0756	0.42358	0.0:0.7231:0.0:0.2769	.	39	P04004	VTNC_HUMAN	H	39	ENSP00000226218:Q39H;ENSP00000440439:Q39H	ENSP00000226218:Q39H	Q	-	3	2	AC002094.1	23721142	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	1.955000	0.40372	0.353000	0.24079	0.655000	0.94253	CAG		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		14	26	0	0	0	1	0	14	26				
TP53TG5	27296	broad.mit.edu	37	20	44003691	44003691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr20:44003691C>T	ENST00000372726.3	-	4	912	c.756G>A	c.(754-756)tgG>tgA	p.W252*	TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Nonsense_Mutation_p.W236*|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	252					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGTATGGATGCCACATAGGCA	0.612																																						ENST00000372726.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(754-756)tgG>tgA		TP53 target 5							70.0	67.0	68.0					20																	44003691		2202	4300	6502	SO:0001587	stop_gained	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44003691C>T	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.756G>A	20.37:g.44003691C>T	ENSP00000361811:p.Trp252*					SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Nonsense_Mutation_p.W236*|SYS1_ENST00000426004.1_3'UTR	p.W252*	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	912	-			252						Nonsense_Mutation	SNP	ENST00000372726.3	37	c.756G>A	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110240	0.56398	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	.	.	.	5.46	-0.0299	0.13916	.	1.535550	0.03442	N	0.209457	.	.	.	.	.	.	0.49687	D	0.999818	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	8.7704	6.1582	0.20350	0.3184:0.1384:0.5433:0.0	.	.	.	.	X	252;236	.	ENSP00000361811:W252X	W	-	3	0	TP53TG5	43437105	0.206000	0.23470	0.002000	0.10522	0.025000	0.11179	1.440000	0.35024	0.145000	0.18977	-1.085000	0.02201	TGG		0.612	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		3	67	0	0	0	1	0	3	67				
APBA3	9546	broad.mit.edu	37	19	3760228	3760228	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:3760228C>T	ENST00000316757.3	-	2	235	c.35G>A	c.(34-36)gGg>gAg	p.G12E	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	12					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGAGGCCCCGAAGGGGA	0.622																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(34-36)gGg>gAg		amyloid beta (A4) precursor protein-binding, family A, member 3							20.0	24.0	23.0					19																	3760228		2178	4268	6446	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3760228C>T	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.35G>A	19.37:g.3760228C>T	ENSP00000315136:p.Gly12Glu						p.G12E	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	235	-		Hepatocellular(1079;0.137)	12					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.35G>A	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	7.609	0.674440	0.14841	.	.	ENSG00000011132	ENST00000316757	T	0.47528	0.84	4.73	1.04	0.20106	.	0.940149	0.08769	N	0.896650	T	0.29491	0.0735	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21930	-1.0231	10	0.28530	T	0.3	.	3.0292	0.06101	0.0:0.4692:0.2333:0.2976	.	12	O96018	APBA3_HUMAN	E	12	ENSP00000315136:G12E	ENSP00000315136:G12E	G	-	2	0	APBA3	3711228	0.000000	0.05858	0.071000	0.20095	0.047000	0.14425	-0.370000	0.07523	0.414000	0.25790	0.561000	0.74099	GGG		0.622	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			4	19	0	0	0	1	0	4	19				
PNP	4860	broad.mit.edu	37	14	20942985	20942985	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr14:20942985C>T	ENST00000361505.5	+	4	485	c.339C>T	c.(337-339)gtC>gtT	p.V113V	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CCCTGGTAGTCACCAATGCAG	0.463																																						ENST00000361505.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						c.(337-339)gtC>gtT		purine nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						57.0	52.0	54.0					14																	20942985		2203	4300	6503	SO:0001819	synonymous_variant	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20942985C>T		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.339C>T	14.37:g.20942985C>T						RP11-203M5.8_ENST00000554678.1_lincRNA	p.V113V	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN			4	485	+			113						Silent	SNP	ENST00000361505.5	37	c.339C>T	CCDS9552.1																																																																																				0.463	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		10	20	0	0	0	1	0	10	20				
PCYT1B	9468	broad.mit.edu	37	X	24690706	24690706	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chrX:24690706G>A	ENST00000379145.1	-	1	88	c.44C>T	c.(43-45)gCt>gTt	p.A15V		NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	34					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CAATTGGGGAGCGCGATTGTC	0.418																																						ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(43-45)gCt>gTt		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						182.0	142.0	154.0					X																	24690706		1568	3582	5150	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24690706G>A	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379145.1:c.44C>T	X.37:g.24690706G>A	ENSP00000368440:p.Ala15Val						p.A15V	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			1	88	-			34					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379145.1	37	c.44C>T	CCDS55392.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214523	0.22289	.	.	ENSG00000102230	ENST00000379145	.	.	.	4.78	3.91	0.45181	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.21527	N	0.99966	B	0.06786	0.001	B	0.01281	0.0	T	0.21008	-1.0258	8	0.15066	T	0.55	.	9.1834	0.37156	0.1044:0.0:0.8956:0.0	.	15	E9PD84	.	V	15	.	ENSP00000368440:A15V	A	-	2	0	PCYT1B	24600627	0.242000	0.23868	0.007000	0.13788	0.006000	0.05464	1.239000	0.32719	1.024000	0.39682	0.590000	0.80494	GCT		0.418	PCYT1B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056102.2	NM_004845		6	27	0	0	0	1	0	6	27				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	52	1	0	1	1	1	3	52				
SLCO1B7	338821	broad.mit.edu	37	12	21207529	21207529	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:21207529C>T	ENST00000421593.2	+	10	1500	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	SLCO1B7_ENST00000554957.1_Silent_p.L547L|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.S1F|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Silent_p.L547L|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	500						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATGCTTTCCTCTGTGCAGTTG	0.353																																						ENST00000590779.1																			0											c.(1-3)tCt>tTt									86.0	94.0	91.0					12																	21207529		2187	4293	6480	SO:0001819	synonymous_variant	0							g.chr12:21207529C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1500C>T	12.37:g.21207529C>T						LST3_ENST00000381541.3_Silent_p.L547L|SLCO1B7_ENST00000421593.2_Silent_p.L500L|SLCO1B7_ENST00000554957.1_Silent_p.L547L|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron	p.S1F							1	2	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2C>T	CCDS44843.1																																																																																				0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		3	66	0	0	0	1	0	3	66				
SYT12	91683	broad.mit.edu	37	11	66802253	66802253	+	Missense_Mutation	SNP	G	G	A	rs139889939	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:66802253G>A	ENST00000393946.2	+	6	1334	c.172G>A	c.(172-174)Gac>Aac	p.D58N	SYT12_ENST00000526281.1_Intron|SYT12_ENST00000525457.1_Missense_Mutation_p.D58N|SYT12_ENST00000527043.1_Missense_Mutation_p.D58N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	58						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCCAATTACGACTACAGGTA	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		15739	0.0		0.002	False		,,,				2504	0.0				Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(172-174)Gac>Aac		synaptotagmin XII		G	ASN/ASP,ASN/ASP	0,4400		0,0,2200	82.0	84.0	83.0		172,172	4.0	1.0	11	dbSNP_134	83	4,8586	3.7+/-12.6	0,4,4291	yes	missense,missense	SYT12	NM_001177880.1,NM_177963.3	23,23	0,4,6491	AA,AG,GG		0.0466,0.0,0.0308	possibly-damaging,possibly-damaging	58/422,58/422	66802253	4,12986	2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66802253G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.172G>A	11.37:g.66802253G>A	ENSP00000377520:p.Asp58Asn					SYT12_ENST00000527043.1_Missense_Mutation_p.D58N|SYT12_ENST00000525457.1_Missense_Mutation_p.D58N|SYT12_ENST00000526281.1_Intron	p.D58N			Q8IV01	SYT12_HUMAN			6	1334	+			58						Missense_Mutation	SNP	ENST00000393946.2	37	c.172G>A	CCDS8154.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.33	3.093437	0.56075	0.0	4.66E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.13778	2.56;2.56;2.56	4.94	4.03	0.46877	.	0.184300	0.46442	N	0.000294	T	0.09423	0.0232	N	0.24115	0.695	0.48632	D	0.999687	B	0.10296	0.003	B	0.04013	0.001	T	0.15896	-1.0421	10	0.28530	T	0.3	.	11.0731	0.48014	0.0916:0.0:0.9084:0.0	.	58	Q8IV01	SYT12_HUMAN	N	58	ENSP00000377520:D58N;ENSP00000431400:D58N;ENSP00000435316:D58N	ENSP00000377520:D58N	D	+	1	0	SYT12	66558829	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	5.083000	0.64456	1.066000	0.40716	0.563000	0.77884	GAC		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		24	47	0	0	0	1	0	24	47				
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		90	Whole gene deletion(37)|Substitution - Missense(32)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)	central_nervous_system(31)|endometrium(16)|prostate(16)|skin(9)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM074467	PTEN	M	rs121913293	c.(517-519)Cgc>Tgc		phosphatase and tensin homolog							126.0	130.0	129.0					10																	89711899		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711899C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.517C>T	10.37:g.89711899C>T	ENSP00000361021:p.Arg173Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R173C	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1874	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.517C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207402	0.95033	.	.	ENSG00000171862	ENST00000371953	D	0.98926	-5.24	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99468	0.9811	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.98423	1.0578	9	.	.	.	0.9169	19.9308	0.97118	0.0:1.0:0.0:0.0	.	173	P60484	PTEN_HUMAN	C	173	ENSP00000361021:R173C	.	R	+	1	0	PTEN	89701879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		23	38	0	0	0	1	0	23	38				
SASH1	23328	broad.mit.edu	37	6	148854057	148854057	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr6:148854057C>T	ENST00000367467.3	+	14	2164	c.1689C>T	c.(1687-1689)acC>acT	p.T563T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	563	SH3.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGTGCACACCGACTTCACCC	0.577																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1687-1689)acC>acT		SAM and SH3 domain containing 1							138.0	131.0	133.0					6																	148854057		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148854057C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1689C>T	6.37:g.148854057C>T							p.T563T	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	14	2164	+		Ovarian(120;0.0169)	563			SH3.		Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.1689C>T	CCDS5212.1																																																																																				0.577	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		26	72	0	0	0	1	0	26	72				
COL24A1	255631	broad.mit.edu	37	1	86306932	86306932	+	Silent	SNP	T	T	C	rs368315060		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:86306932T>C	ENST00000370571.2	-	42	3966	c.3600A>G	c.(3598-3600)ctA>ctG	p.L1200L	COL24A1_ENST00000436319.1_Silent_p.L1200L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1200					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGTGGTCCTAGGACTGTGC	0.333																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3598-3600)ctA>ctG		collagen, type XXIV, alpha 1		T		0,3622		0,0,1811	49.0	46.0	47.0		3600	0.3	1.0	1		47	1,8153		0,1,4076	no	coding-synonymous	COL24A1	NM_152890.5		0,1,5887	CC,CT,TT		0.0123,0.0,0.0085		1200/1715	86306932	1,11775	1811	4077	5888	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86306932T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3600A>G	1.37:g.86306932T>C						COL24A1_ENST00000436319.1_Silent_p.L1200L	p.L1200L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	42	3966	-			1200					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.3600A>G	CCDS41353.1																																																																																				0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		14	28	0	0	0	1	0	14	28				
ZHX3	23051	broad.mit.edu	37	20	39831315	39831315	+	Missense_Mutation	SNP	C	C	A	rs577676660	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr20:39831315C>A	ENST00000309060.3	-	4	2657	c.2242G>T	c.(2242-2244)Gcc>Tcc	p.A748S	ZHX3_ENST00000559234.1_Missense_Mutation_p.A748S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A748S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A748S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A748S|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A748S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	748					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTCACAGGCACCCAGCCCT	0.547																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2242-2244)Gcc>Tcc		zinc fingers and homeoboxes 3							80.0	79.0	79.0					20																	39831315		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831315C>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2242G>T	20.37:g.39831315C>A	ENSP00000312222:p.Ala748Ser					ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A748S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A748S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A748S|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A748S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A748S	p.A748S			Q9H4I2	ZHX3_HUMAN			4	2657	-		Myeloproliferative disorder(115;0.00425)	748					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2242G>T	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.327|0.327	-0.958205|-0.958205	0.02267|0.02267	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	T;T;T|.	0.11712|.	2.96;2.96;2.75|.	6.07|6.07	-0.654|-0.654	0.11443|0.11443	.|.	1.749050|.	0.02800|.	N|.	0.123043|.	T|T	0.36468|0.36468	0.0968|0.0968	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B;B|.	0.22983|.	0.026;0.075;0.078|.	B;B;B|.	0.24394|.	0.008;0.021;0.053|.	T|T	0.33240|0.33240	-0.9876|-0.9876	10|5	0.07482|.	T|.	0.82|.	0.0106|0.0106	6.6797|6.6797	0.23113|0.23113	0.0:0.4888:0.1119:0.3993|0.0:0.4888:0.1119:0.3993	.|.	748;748;748|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	S|F	748;748;748;748;526|456	ENSP00000362360:A748S;ENSP00000442290:A748S;ENSP00000443783:A748S|.	ENSP00000312222:A748S|.	A|C	-|-	1|2	0|0	ZHX3|ZHX3	39264729|39264729	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.096000|0.096000	0.18686|0.18686	-1.147000|-1.147000	0.03188|0.03188	-0.326000|-0.326000	0.08564|0.08564	-0.345000|-0.345000	0.07892|0.07892	GCC|TGC		0.547	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	68	1	0	0.0215528	1	0.0220426	5	68				
FCGBP	8857	broad.mit.edu	37	19	40366423	40366423	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:40366423G>A	ENST00000221347.6	-	30	13818	c.13811C>T	c.(13810-13812)gCg>gTg	p.A4604V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4604	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCGCGTACGCCGCCGGCAC	0.682																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13810-13812)gCg>gTg		Fc fragment of IgG binding protein							49.0	55.0	53.0					19																	40366423		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40366423G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13811C>T	19.37:g.40366423G>A	ENSP00000221347:p.Ala4604Val						p.A4604V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13818	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4604			VWFD 11.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13811C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274717	0.23307	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.32	2.14	0.27477	von Willebrand factor, type D domain (3);	0.351880	0.25487	N	0.030331	T	0.44787	0.1310	L	0.46819	1.47	0.09310	N	1	B	0.30179	0.271	B	0.24006	0.05	T	0.27262	-1.0079	10	0.33940	T	0.23	.	9.4695	0.38833	0.1811:0.0:0.8189:0.0	.	4604	Q9Y6R7	FCGBP_HUMAN	V	4604	ENSP00000221347:A4604V	ENSP00000221347:A4604V	A	-	2	0	FCGBP	45058263	0.000000	0.05858	0.019000	0.16419	0.182000	0.23217	0.418000	0.21230	0.553000	0.29044	0.305000	0.20034	GCG		0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	59	0	0	0	1	0	18	59				
ZDBF2	57683	broad.mit.edu	37	2	207169847	207169847	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:207169847C>T	ENST00000374423.3	+	5	981	c.595C>T	c.(595-597)Cca>Tca	p.P199S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	199							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAACGATAGACCAGTTACAGC	0.408																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(595-597)Cca>Tca		zinc finger, DBF-type containing 2							52.0	52.0	52.0					2																	207169847		1864	4097	5961	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169847C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.595C>T	2.37:g.207169847C>T	ENSP00000363545:p.Pro199Ser						p.P199S	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	981	+			199					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.595C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242051	0.58995	.	.	ENSG00000204186	ENST00000374423	T	0.16743	2.32	5.11	3.3	0.37823	.	0.226054	0.22845	N	0.054930	T	0.16514	0.0397	L	0.53249	1.67	0.09310	N	1	B	0.27997	0.197	B	0.28638	0.092	T	0.13150	-1.0520	10	0.41790	T	0.15	.	9.1561	0.36994	0.0:0.8335:0.0:0.1665	.	199	Q9HCK1	ZDBF2_HUMAN	S	199	ENSP00000363545:P199S	ENSP00000363545:P199S	P	+	1	0	ZDBF2	206878092	0.038000	0.19896	0.890000	0.34922	0.006000	0.05464	1.154000	0.31688	1.148000	0.42385	0.650000	0.86243	CCA		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		14	19	0	0	0	1	0	14	19				
DMD	1756	broad.mit.edu	37	X	31838132	31838132	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chrX:31838132C>G	ENST00000357033.4	-	50	7475	c.7269G>C	c.(7267-7269)aaG>aaC	p.K2423N	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.K2419N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2423					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTCAGGCTGCTTTGCCCTCA	0.438																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7267-7269)aaG>aaC		dystrophin							158.0	124.0	135.0					X																	31838132		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31838132C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7269G>C	X.37:g.31838132C>G	ENSP00000354923:p.Lys2423Asn					DMD_ENST00000378677.2_Missense_Mutation_p.K2419N|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR	p.K2423N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			50	7475	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2423					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7269G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.954311|2.954311	0.53293|0.53293	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.|T;T;T	.|0.62639	.|3.97;0.01;0.01	5.84|5.84	2.17|2.17	0.27698|0.27698	.|.	.|0.000000	.|0.36409	.|U	.|0.002606	T|T	0.60741|0.60741	0.2292|0.2292	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.998;0.998	.|D;D;D;D;D	.|0.80764	.|0.994;0.987;0.987;0.981;0.981	T|T	0.54370|0.54370	-0.8304|-0.8304	5|10	.|0.33940	.|T	.|0.23	.|.	8.4688|8.4688	0.32973|0.32973	0.0:0.6796:0.0:0.3204|0.0:0.6796:0.0:0.3204	.|.	.|2415;2423;2419;1082;1079	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.|.;DMD_HUMAN;.;.;.	P|N	152|2415;1082;1079;119;2419;2423;2423;2300	.|ENSP00000350765:K119N;ENSP00000367948:K2419N;ENSP00000354923:K2423N	.|ENSP00000354923:K2423N	A|K	-|-	1|3	0|2	DMD|DMD	31748053|31748053	0.972000|0.972000	0.33761|0.33761	0.234000|0.234000	0.24042|0.24042	0.958000|0.958000	0.62258|0.62258	0.372000|0.372000	0.20467|0.20467	0.001000|0.001000	0.14605|0.14605	0.600000|0.600000	0.82982|0.82982	GCA|AAG		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		27	17	0	0	0	1	0	27	17				
HOXB2	3212	broad.mit.edu	37	17	46620856	46620856	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:46620856C>T	ENST00000330070.4	-	2	1812	c.645G>A	c.(643-645)ccG>ccA	p.P215P	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	215					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCAGGGCTCCCGGGCAGGCAG	0.711																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(643-645)ccG>ccA		homeobox B2							17.0	22.0	20.0					17																	46620856		1985	3924	5909	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620856C>T		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.645G>A	17.37:g.46620856C>T							p.P215P	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	1812	-			215					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.645G>A	CCDS11527.1																																																																																				0.711	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			3	24	0	0	0	1	0	3	24				
LILRB4	11006	broad.mit.edu	37	19	55175919	55175919	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:55175919T>A	ENST00000391736.1	+	6	953	c.638T>A	c.(637-639)cTg>cAg	p.L213Q	LILRB4_ENST00000391733.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.L213Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L213Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	213	Ig-like C2-type 2.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGTGACCCCCTGGAGCTCATA	0.617																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(637-639)cTg>cAg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							56.0	57.0	57.0					19																	55175919		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175919T>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.638T>A	19.37:g.55175919T>A	ENSP00000375616:p.Leu213Gln					LILRB4_ENST00000391733.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.L213Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L213Q	p.L213Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	6	953	+			213			Ig-like C2-type 2.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.638T>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629619	0.28978	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.01034	5.42;5.42;5.42;5.42;5.42;5.42	2.63	1.57	0.23409	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05502	0.0145	M	0.91090	3.175	0.09310	N	1	D;D;D;D;D	0.89917	0.997;0.998;0.992;1.0;1.0	D;D;D;D;D	0.81914	0.933;0.954;0.943;0.995;0.98	T	0.21793	-1.0235	9	0.56958	D	0.05	.	4.4091	0.11423	0.0:0.1731:0.0:0.8269	.	213;213;213;213;213	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	Q	213	ENSP00000375616:L213Q;ENSP00000270452:L213Q;ENSP00000408995:L213Q;ENSP00000375614:L213Q;ENSP00000375613:L213Q;ENSP00000401962:L213Q	ENSP00000270452:L213Q	L	+	2	0	LILRB4	59867731	0.058000	0.20735	0.012000	0.15200	0.013000	0.08279	1.453000	0.35167	0.237000	0.21200	0.329000	0.21502	CTG		0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			25	48	0	0	0	1	0	25	48				
MTMR2	8898	broad.mit.edu	37	11	95582869	95582869	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:95582869G>A	ENST00000346299.5	-	9	1302	c.962C>T	c.(961-963)gCc>gTc	p.A321V	MTMR2_ENST00000352297.7_Missense_Mutation_p.A249V|MTMR2_ENST00000409459.1_Missense_Mutation_p.A249V|MTMR2_ENST00000393223.3_Missense_Mutation_p.A249V|MTMR2_ENST00000484818.1_5'Flank	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	321	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTTGGCCGGGCATCAAATAT	0.413																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(745-747)gCc>gTc		myotubularin related protein 2							177.0	175.0	176.0					11																	95582869		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95582869G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.962C>T	11.37:g.95582869G>A	ENSP00000345752:p.Ala321Val					MTMR2_ENST00000346299.5_Missense_Mutation_p.A321V|MTMR2_ENST00000352297.7_Missense_Mutation_p.A249V|MTMR2_ENST00000409459.1_Missense_Mutation_p.A249V	p.A249V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			11	1408	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	321			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.746C>T	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330858	0.95733	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.17	5.17	0.71159	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	0.967;1.0	P;D	0.75020	0.735;0.985	D	0.98100	1.0414	10	0.87932	D	0	.	18.666	0.91491	0.0:0.0:1.0:0.0	.	321;321	A8K5G2;Q13614	.;MTMR2_HUMAN	V	321;249;249;249;249;304	ENSP00000345752:A321V;ENSP00000376915:A249V;ENSP00000386882:A249V;ENSP00000343737:A249V;ENSP00000396020:A249V	ENSP00000345752:A321V	A	-	2	0	MTMR2	95222517	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.787000	0.99055	2.402000	0.81655	0.591000	0.81541	GCC		0.413	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		4	131	0	0	0	1	0	4	131				
PAH	5053	broad.mit.edu	37	12	103246691	103246691	+	Silent	SNP	C	C	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:103246691C>A	ENST00000553106.1	-	7	1216	c.744G>T	c.(742-744)ctG>ctT	p.L248L	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Silent_p.L243L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	248			L -> P (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGAGGAAAGCAGGCCAGCCA	0.537																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(742-744)ctG>ctT		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						73.0	82.0	79.0					12																	103246691		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246691C>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.744G>T	12.37:g.103246691C>A						PAH_ENST00000307000.2_Silent_p.L243L	p.L248L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			7	1216	-			248		L -> P (in PKU).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.744G>T	CCDS9092.1																																																																																				0.537	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			15	30	1	0	1.3612e-06	1	1.494e-06	15	30				
SPTBN4	57731	broad.mit.edu	37	19	41077968	41077968	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:41077968G>A	ENST00000352632.3	+	34	7449	c.7363G>A	c.(7363-7365)Ggc>Agc	p.G2455S	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G2455S|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G1198S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2455	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGGAACTGGGCTTCTACAA	0.602																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(7363-7365)Ggc>Agc		spectrin, beta, non-erythrocytic 4							193.0	205.0	201.0					19																	41077968		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41077968G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7363G>A	19.37:g.41077968G>A	ENSP00000263373:p.Gly2455Ser					SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G1198S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G2455S	p.G2455S			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	7449	+			2455			PH.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7363G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614597	0.87359	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.29142	1.58;1.58	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000007	T	0.44705	0.1306	L	0.35487	1.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10730	-1.0617	10	0.25751	T	0.34	.	17.5798	0.87963	0.0:0.0:1.0:0.0	.	1198;2455	C9JY79;Q9H254	.;SPTN4_HUMAN	S	2455;2455;1198	ENSP00000263373:G2455S;ENSP00000375879:G1198S	ENSP00000263373:G2455S	G	+	1	0	SPTBN4	45769808	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.505000	0.97989	2.692000	0.91855	0.563000	0.77884	GGC		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	251	0	0	0	1	0	4	251				
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-	rs200097270	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:745643delC	ENST00000435300.1	-	0	340				RP11-206L10.8_ENST00000447500.1_RNA																							TTCAAAGTGACAGACTGTGGG	0.299													|||unknown(NO_COVERAGE)	135	0.0269569	0.0234	0.0288	5008	,	,		20667	0.0		0.0417	False		,,,				2504	0.0429					ENST00000435300.1																			0																																																			0							g.chr1:745643delC																													1.37:g.745643delC														0	340	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			3	4						3	4	---	---	---	---
TRNAU1AP	54952	broad.mit.edu	37	1	28906819	28906820	+	IGR	INS	-	-	A	rs147786269|rs397936635		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:28906819_28906820insA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000531126.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000475441.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						gactccgtctcaaaaaaaaaaa	0.49																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:28906819_28906820insA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906830_28906830dupA						SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA								0	1100	-								Q86SU7	RNA	INS	ENST00000373830.3	37		CCDS324.1																																																																																				0.490	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		3	3						3	3	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47127717	47127721	+	Frame_Shift_Del	DEL	CGTCA	CGTCA	-	rs148618471	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr3:47127717_47127721delCGTCA	ENST00000409792.3	-	11	5403_5407	c.5361_5365delTGACG	c.(5359-5367)ggtgacggcfs	p.GDG1787fs	SETD2_ENST00000492397.1_5'Flank|snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1787					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTCCCGGCCGTCACCTAGCTCTG	0.478			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5359-5367)gggcfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47127717_47127721delCGTCA	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5361_5365delTGACG	3.37:g.47127717_47127721delCGTCA	ENSP00000386759:p.Gly1787fs						p.GDG1787fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	11	5403_5407	-		Acute lymphoblastic leukemia(5;0.0169)	1787					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.5361_5365delTGACG	CCDS2749.2																																																																																				0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		14	34						14	34	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169677740	169677741	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr5:169677740_169677741delCC	ENST00000046794.5	-	20	2087_2088	c.1472_1473delGG	c.(1471-1473)gggfs	p.G491fs	LCP2_ENST00000521416.1_Frame_Shift_Del_p.G286fs|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	491	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTACCTCTTTCCCTCGGAGTCC	0.416																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1471-1473)gfs		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)																																				SO:0001589	frameshift_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169677740_169677741delCC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1472_1473delGG	5.37:g.169677740_169677741delCC	ENSP00000046794:p.Gly491fs					LCP2_ENST00000521416.1_Frame_Shift_Del_p.G286fs|C5orf58_ENST00000517575.1_Intron	p.G491fs	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	20	2087_2088	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	491			SH2.		A8KA25|Q53XV4	Frame_Shift_Del	DEL	ENST00000046794.5	37	c.1472_1473delGG	CCDS47339.1																																																																																				0.416	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		28	69						28	69	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91700316	91700316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:91700316delA	ENST00000359028.2	+	29	6866	c.6641delA	c.(6640-6642)gaafs	p.E2214fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2202fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2214fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2214	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GACAGAAAGGAAAAAGAGGTA	0.353			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(6640-6642)gafs		A kinase (PRKA) anchor protein 9							73.0	79.0	77.0					7																	91700316		2203	4300	6503	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91700316delA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6641delA	7.37:g.91700316delA	ENSP00000351922:p.Glu2214fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2202fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2214fs	p.E2214fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		29	6866	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2214			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.6641delA																																																																																					0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		15	49						15	49	---	---	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99757657	99757658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:99757657_99757658insC	ENST00000360039.4	-	4	1746_1747	c.1354_1355insG	c.(1354-1356)gagfs	p.E452fs	GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.E452fs|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.E390fs	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	452					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTAGGCGCTCACATTCCTCT	0.564																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1354-1356)gcgfs		galactose-3-O-sulfotransferase 4																																				SO:0001589	frameshift_variant	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757657_99757658insC	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1355dupG	7.37:g.99757658_99757658dupC	ENSP00000353142:p.Glu452fs					GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.A452fs|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.A390fs|GAL3ST4_ENST00000423751.1_3'UTR	p.A452fs	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1746_1747	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		452					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Frame_Shift_Ins	INS	ENST00000360039.4	37	c.1354_1355insG	CCDS5688.1																																																																																				0.564	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		19	37						19	37	---	---	---	---
ARFIP2	23647	broad.mit.edu	37	11	6500446	6500447	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:6500446_6500447delGG	ENST00000254584.2	-	4	321_322	c.238_239delCC	c.(238-240)cctfs	p.P80fs	ARFIP2_ENST00000423813.2_Frame_Shift_Del_p.P42fs|ARFIP2_ENST00000445086.2_Intron|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000525235.1_Frame_Shift_Del_p.P80fs|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000396777.3_Frame_Shift_Del_p.P80fs	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	80					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATCTCCAGGGCCAGAAGGA	0.525																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(238-240)tfs		ADP-ribosylation factor interacting protein 2																																				SO:0001589	frameshift_variant	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500446_6500447delGG	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.238_239delCC	11.37:g.6500446_6500447delGG	ENSP00000254584:p.Pro80fs					ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Frame_Shift_Del_p.P80fs|ARFIP2_ENST00000423813.2_Frame_Shift_Del_p.P42fs|ARFIP2_ENST00000525235.1_Frame_Shift_Del_p.P80fs	p.P80fs	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	321_322	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	80					B4DX86|B4E306|D3DQT5	Frame_Shift_Del	DEL	ENST00000254584.2	37	c.238_239delCC	CCDS7765.1																																																																																				0.525	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		9	49						9	49	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	-	TGGGTCC			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr15:79058183_79058184insTGGGTCC	ENST00000388820.4	-	19	4279_4280	c.4069_4070insGGACCCA	c.(4069-4071)aagfs	p.K1357fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1357					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4069-4071)gggfs		ADAM metallopeptidase with thrombospondin type 1 motif, 7				119,2525		11,97,1214						-5.9	0.0			8	119,5765		2,115,2825	no	frameshift	ADAMTS7	NM_014272.3		13,212,4039	A1A1,A1R,RR		2.0224,4.5008,2.7908				238,8290				SO:0001589	frameshift_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058183_79058184insTGGGTCC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4063_4069dupGGACCCA	15.37:g.79058184_79058190dupTGGGTCC	ENSP00000373472:p.Lys1357fs						p.-1357fs	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	4279_4280	-								Q14F51|Q6P7J9	Frame_Shift_Ins	INS	ENST00000388820.4	37	c.4069_4070insGGACCCA	CCDS32303.1																																																																																				0.653	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	5						3	5	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-	rs587780342		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(967-972)tac>t		GATA binding protein 6				7,118,1445		1,0,5,26,66,687						2.8	1.0			1	3,218,2733		1,0,1,71,76,1328	no	codingComplex	GATA6	NM_005257.3		2,0,6,97,142,2015	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4814,7.9618,7.6481				10,336,4178				SO:0001651	inframe_deletion	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19752073_19752075delACC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.968_970delACC	18.37:g.19752082_19752084delACC	ENSP00000269216:p.His333del					GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	1245_1247	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		323					B0YJ17|P78327	In_Frame_Del	DEL	ENST00000269216.3	37	c.968_970delACC	CCDS11872.1																																																																																				0.749	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---
