#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
UFL1	23376	broad.mit.edu	37	6	97000410	97000410	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr6:97000410G>A	ENST00000369278.4	+	18	2104	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	680					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AAAGGTCACAGAAGACCCTGC	0.408																																						ENST00000369278.4																			0											c.(2038-2040)Gaa>Aaa		UFM1-specific ligase 1							160.0	122.0	135.0					6																	97000410		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:97000410G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2038G>A	6.37:g.97000410G>A	ENSP00000358283:p.Glu680Lys						p.E680K	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			18	2104	+			680					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.2038G>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097217	0.94197	.	.	ENSG00000014123	ENST00000369278	T	0.42900	0.96	5.47	5.47	0.80525	.	0.086792	0.85682	D	0.000000	T	0.43188	0.1236	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	P	0.57204	0.815	T	0.30909	-0.9962	10	0.07644	T	0.81	-21.328	19.6893	0.95993	0.0:0.0:1.0:0.0	.	680	O94874	UFL1_HUMAN	K	680	ENSP00000358283:E680K	ENSP00000358283:E680K	E	+	1	0	KIAA0776	97107131	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.140000	0.94607	2.729000	0.93468	0.655000	0.94253	GAA		0.408	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		16	31	0	0	0	1	0	16	31				
CARD6	84674	broad.mit.edu	37	5	40853374	40853374	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr5:40853374C>T	ENST00000254691.5	+	3	2139	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	647					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAGGATATGGCCGCCCTGGCC	0.512																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1939-1941)gCc>gTc		caspase recruitment domain family, member 6							137.0	142.0	140.0					5																	40853374		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853374C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1940C>T	5.37:g.40853374C>T	ENSP00000254691:p.Ala647Val					CARD6_ENST00000381677.3_Intron	p.A647V	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2139	+			647					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1940C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368262	0.61513	.	.	ENSG00000132357	ENST00000254691	T	0.25579	1.79	4.65	2.86	0.33363	.	0.125339	0.36338	N	0.002653	T	0.27697	0.0681	M	0.72118	2.19	0.80722	D	1	B	0.32031	0.352	B	0.33960	0.173	T	0.06752	-1.0809	10	0.72032	D	0.01	-3.4957	8.011	0.30353	0.0:0.7366:0.172:0.0914	.	647	Q9BX69	CARD6_HUMAN	V	647	ENSP00000254691:A647V	ENSP00000254691:A647V	A	+	2	0	CARD6	40889131	0.975000	0.34042	0.630000	0.29268	0.928000	0.56348	2.370000	0.44240	0.567000	0.29293	0.561000	0.74099	GCC		0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			4	108	0	0	0	1	0	4	108				
FGF16	8823	broad.mit.edu	37	X	76711832	76711832	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chrX:76711832C>A	ENST00000439435.1	+	2	169	c.169C>A	c.(169-171)Cct>Act	p.P57T				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						AACACCTATGCCTCAACCTTG	0.458																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(169-171)Cct>Act		fibroblast growth factor 16							104.0	99.0	100.0					X																	76711832		1909	4109	6018	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711832C>A	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"""metacarpal 4-5 fusion"""	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.169C>A	X.37:g.76711832C>A	ENSP00000399324:p.Pro57Thr						p.P57T			O43320	FGF16_HUMAN			2	169	+			0						Missense_Mutation	SNP	ENST00000439435.1	37	c.169C>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.142316	0.77775	.	.	ENSG00000196468	ENST00000439435	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	T	0.75766	0.3894	.	.	.	.	.	.	.	.	.	.	.	.	T	0.74870	-0.3517	3	.	.	.	.	18.5922	0.91217	0.0:1.0:0.0:0.0	.	.	.	.	T	57	.	.	P	+	1	0	FGF16	76598488	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.582000	0.82546	2.334000	0.79466	0.600000	0.82982	CCT		0.458	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		6	39	1	0	0.00307968	1	0.00334178	6	39				
ZNF112	7771	broad.mit.edu	37	19	44833292	44833292	+	Missense_Mutation	SNP	G	G	C	rs549662674		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:44833292G>C	ENST00000337401.4	-	5	1124	c.1036C>G	c.(1036-1038)Ctt>Gtt	p.L346V	ZNF112_ENST00000354340.4_Missense_Mutation_p.L340V|ZNF112_ENST00000536500.1_Missense_Mutation_p.L363V	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TAAGTGTTAAGAGGGGAACAG	0.378																																						ENST00000354340.4																			0											c.(1018-1020)Ctt>Gtt		zinc finger protein 112							121.0	102.0	109.0					19																	44833292		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833292G>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1036C>G	19.37:g.44833292G>C	ENSP00000337081:p.Leu346Val					ZNF112_ENST00000337401.4_Missense_Mutation_p.L346V|ZNF112_ENST00000536500.1_Missense_Mutation_p.L363V	p.L340V	NM_013380.3	NP_037512.3					4	1069	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1018C>G	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329556	0.24167	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.26957	1.7;1.7;1.7	4.85	1.34	0.21922	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36608	0.0973	M	0.90309	3.105	0.09310	N	1	B;B;B	0.19445	0.036;0.029;0.017	B;B;B	0.17098	0.01;0.017;0.007	T	0.40001	-0.9586	9	0.72032	D	0.01	1.9875	10.5544	0.45107	0.0:0.2706:0.5893:0.1401	.	345;363;346	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	V	346;346;340;363;345	ENSP00000337081:L346V;ENSP00000346305:L340V;ENSP00000441990:L363V	ENSP00000253426:L345V	L	-	1	0	ZNF285	49525132	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.660000	0.25009	0.296000	0.22592	-0.305000	0.09177	CTT		0.378	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		6	58	0	0	0	1	0	6	58				
USP28	57646	broad.mit.edu	37	11	113711419	113711419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:113711419C>T	ENST00000003302.4	-	5	503	c.435G>A	c.(433-435)tgG>tgA	p.W145*	USP28_ENST00000260188.5_Nonsense_Mutation_p.W145*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Nonsense_Mutation_p.W20*|USP28_ENST00000537706.1_Nonsense_Mutation_p.W145*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	145					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTCTCCCCAGACTTCAC	0.448																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(433-435)tgG>tgA		ubiquitin specific peptidase 28							130.0	110.0	117.0					11																	113711419		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113711419C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.435G>A	11.37:g.113711419C>T	ENSP00000003302:p.Trp145*					USP28_ENST00000537706.1_Nonsense_Mutation_p.W145*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W20*|USP28_ENST00000260188.5_Nonsense_Mutation_p.W145*|USP28_ENST00000542033.1_5'UTR	p.W145*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	503	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	145					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.435G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711726	0.96830	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	5.75	5.75	0.90469	.	0.258280	0.42294	D	0.000725	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0963	19.5331	0.95237	0.0:1.0:0.0:0.0	.	.	.	.	X	145;145;20;145;73	.	ENSP00000003302:W145X	W	-	3	0	USP28	113216629	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.142000	0.77339	2.701000	0.92244	0.585000	0.79938	TGG		0.448	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			16	29	0	0	0	1	0	16	29				
TRAPPC11	60684	broad.mit.edu	37	4	184595881	184595881	+	Silent	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:184595881T>C	ENST00000334690.6	+	6	778	c.576T>C	c.(574-576)ttT>ttC	p.F192F	RNU6-335P_ENST00000364563.1_RNA|TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.F192F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	192					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AAAATGCCTTTTATGAACATG	0.299																																						ENST00000334690.6																			0											c.(574-576)ttT>ttC		trafficking protein particle complex 11							55.0	62.0	60.0					4																	184595881		2200	4294	6494	SO:0001819	synonymous_variant	60684							g.chr4:184595881T>C		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.576T>C	4.37:g.184595881T>C						TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.F192F	p.F192F	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			6	778	+			192					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.576T>C	CCDS34112.1																																																																																				0.299	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		5	69	0	0	0	1	0	5	69				
PLAGL2	5326	broad.mit.edu	37	20	30784514	30784514	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr20:30784514T>C	ENST00000246229.4	-	3	1496	c.1232A>G	c.(1231-1233)aAt>aGt	p.N411S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	411					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAAGTCCACATTAGCAGCGCA	0.647																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1231-1233)aAt>aGt		pleiomorphic adenoma gene-like 2							28.0	29.0	29.0					20																	30784514		2202	4300	6502	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784514T>C		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1232A>G	20.37:g.30784514T>C	ENSP00000246229:p.Asn411Ser						p.N411S	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1496	-			411					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.1232A>G	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	T	3.953	-0.011816	0.07727	.	.	ENSG00000126003	ENST00000246229	T	0.08458	3.09	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	N	0.13235	0.315	0.45621	D	0.998559	B	0.29862	0.259	B	0.19666	0.026	T	0.22103	-1.0226	10	0.02654	T	1	.	10.9589	0.47374	0.0:0.0:0.1564:0.8436	.	411	Q9UPG8	PLAL2_HUMAN	S	411	ENSP00000246229:N411S	ENSP00000246229:N411S	N	-	2	0	PLAGL2	30248175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.844000	0.62846	2.095000	0.63458	0.528000	0.53228	AAT		0.647	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		4	17	0	0	0	1	0	4	17				
EVC	2121	broad.mit.edu	37	4	5721043	5721043	+	Silent	SNP	C	C	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:5721043C>A	ENST00000264956.6	+	2	427	c.243C>A	c.(241-243)tcC>tcA	p.S81S	EVC_ENST00000382674.2_Silent_p.S81S|EVC_ENST00000509451.1_Silent_p.S81S	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	81					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAACTGGCTCCCCATCAAGGA	0.498																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(241-243)tcC>tcA		Ellis van Creveld syndrome							214.0	209.0	210.0					4																	5721043		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5721043C>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.243C>A	4.37:g.5721043C>A						EVC_ENST00000509451.1_Silent_p.S81S|EVC_ENST00000264956.6_Silent_p.S81S	p.S81S			P57679	EVC_HUMAN			2	427	+		Myeloproliferative disorder(84;0.117)	81						Silent	SNP	ENST00000264956.6	37	c.243C>A	CCDS3383.1																																																																																				0.498	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			33	42	1	0	1.45844e-13	1	1.61696e-13	33	42				
PRPF4B	8899	broad.mit.edu	37	6	4031995	4031995	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr6:4031995G>C	ENST00000337659.6	+	2	344	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.E68Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	82	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				caaaagaaaagaGATTATTGA	0.313																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(244-246)Gag>Cag		pre-mRNA processing factor 4B							81.0	73.0	76.0					6																	4031995		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4031995G>C	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.244G>C	6.37:g.4031995G>C	ENSP00000337194:p.Glu82Gln					PRPF4B_ENST00000538861.1_Missense_Mutation_p.E68Q	p.E82Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	344	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	82			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.244G>C	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044313	0.55110	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69561	-0.39;-0.41	5.4	5.4	0.78164	.	0.154588	0.44483	N	0.000451	T	0.68091	0.2963	L	0.29908	0.895	0.45762	D	0.998653	D	0.63880	0.993	D	0.70227	0.968	T	0.72874	-0.4160	10	0.72032	D	0.01	.	17.3614	0.87351	0.0:0.0:1.0:0.0	.	82	Q13523	PRP4B_HUMAN	Q	82;68	ENSP00000337194:E82Q;ENSP00000439331:E68Q	ENSP00000337194:E82Q	E	+	1	0	PRPF4B	3976994	1.000000	0.71417	0.977000	0.42913	0.662000	0.39071	9.390000	0.97246	2.511000	0.84671	0.462000	0.41574	GAG		0.313	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			4	52	0	0	0	1	0	4	52				
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(139-141)agA>agG		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296599T>C	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.141A>G	17.37:g.39296599T>C							p.R47R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	140	-			47			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.141A>G	CCDS54125.1																																																																																				0.682	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	48	0	0	0	1	0	4	48				
PTPN3	5774	broad.mit.edu	37	9	112151535	112151535	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr9:112151535G>A	ENST00000374541.2	-	22	2335	c.2231C>T	c.(2230-2232)aCg>aTg	p.T744M	PTPN3_ENST00000262539.3_Missense_Mutation_p.T590M|PTPN3_ENST00000412145.1_Missense_Mutation_p.T613M|PTPN3_ENST00000394827.3_Missense_Mutation_p.T212M|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.T568M	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	744	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTGAGAGTCGTCAACATGAC	0.498																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1837-1839)aCg>aTg		protein tyrosine phosphatase, non-receptor type 3							93.0	76.0	82.0					9																	112151535		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112151535G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2231C>T	9.37:g.112151535G>A	ENSP00000363667:p.Thr744Met					PTPN3_ENST00000374541.2_Missense_Mutation_p.T744M|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.T568M|PTPN3_ENST00000394827.3_Missense_Mutation_p.T212M|PTPN3_ENST00000262539.3_Missense_Mutation_p.T590M	p.T613M	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			17	4391	-			744					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1838C>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509809	0.96386	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72924	-0.4144	10	0.87932	D	0	.	19.5451	0.95291	0.0:0.0:1.0:0.0	.	590;699;744	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	M	744;613;568;744;212;590	ENSP00000416654:T613M;ENSP00000395384:T568M;ENSP00000363667:T744M;ENSP00000378304:T212M;ENSP00000262539:T590M	ENSP00000262539:T590M	T	-	2	0	PTPN3	111191356	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	9.869000	0.99810	2.629000	0.89072	0.655000	0.94253	ACG		0.498	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			9	33	0	0	0	1	0	9	33				
GPR108	56927	broad.mit.edu	37	19	6732127	6732127	+	Missense_Mutation	SNP	C	C	T	rs373940895	byFrequency	TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:6732127C>T	ENST00000264080.7	-	13	1191	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	GPR108_ENST00000430424.4_Missense_Mutation_p.E147K|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	389						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCGCCTTCCTCGCGGGACTCG	0.647													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19506	0.0		0.0	False		,,,				2504	0.0					ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1165-1167)Gag>Aag		G protein-coupled receptor 108		C	LYS/GLU	1,4319		0,1,2159	48.0	57.0	54.0		1165	4.6	0.8	19		54	0,8504		0,0,4252	no	missense	GPR108	NM_001080452.1	56	0,1,6411	TT,TC,CC		0.0,0.0231,0.0078	probably-damaging	389/544	6732127	1,12823	2160	4252	6412	SO:0001583	missense	56927					integral to membrane		g.chr19:6732127C>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1165G>A	19.37:g.6732127C>T	ENSP00000264080:p.Glu389Lys					GPR108_ENST00000430424.4_Missense_Mutation_p.E147K	p.E389K	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			13	1191	-			389					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.1165G>A	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094478	0.76870	2.31E-4	0.0	ENSG00000125734	ENST00000264080;ENST00000550472;ENST00000430424	T	0.26223	1.75	4.61	4.61	0.57282	.	0.194409	0.30602	U	0.009277	T	0.53753	0.1816	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.97	T	0.61053	-0.7140	10	0.62326	D	0.03	0.2559	14.9384	0.70975	0.0:1.0:0.0:0.0	.	389;147	Q9NPR9;B9EK73	GP108_HUMAN;.	K	389;39;147	ENSP00000264080:E389K	ENSP00000264080:E389K	E	-	1	0	GPR108	6683127	1.000000	0.71417	0.814000	0.32528	0.176000	0.22953	5.212000	0.65225	2.104000	0.64026	0.491000	0.48974	GAG		0.647	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			3	21	0	0	0	1	0	3	21				
CSMD1	64478	broad.mit.edu	37	8	3855453	3855453	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:3855453T>A	ENST00000520002.1	-	5	1345	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	CSMD1_ENST00000539096.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602723.1_Missense_Mutation_p.I264F|CSMD1_ENST00000400186.3_Missense_Mutation_p.I264F|CSMD1_ENST00000542608.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602557.1_Missense_Mutation_p.I264F|CSMD1_ENST00000537824.1_Missense_Mutation_p.I264F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCCACTGATCTCTAAGAAA	0.517																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(790-792)Atc>Ttc		CUB and Sushi multiple domains 1							54.0	56.0	55.0					8																	3855453		2039	4219	6258	SO:0001583	missense	64478					integral to membrane		g.chr8:3855453T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.790A>T	8.37:g.3855453T>A	ENSP00000430733:p.Ile264Phe					CSMD1_ENST00000539096.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602557.1_Missense_Mutation_p.I264F|CSMD1_ENST00000542608.1_Missense_Mutation_p.I264F|CSMD1_ENST00000400186.3_Missense_Mutation_p.I264F|CSMD1_ENST00000537824.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602723.1_Missense_Mutation_p.I264F	p.I264F			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	5	1345	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	264			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.790A>T		.	.	.	.	.	.	.	.	.	.	T	18.55	3.647623	0.67358	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.54	5.54	0.83059	.	0.000000	0.26556	U	0.023713	T	0.58595	0.2133	M	0.86343	2.81	0.43517	D	0.995786	D	0.58970	0.984	P	0.55303	0.773	T	0.64884	-0.6302	10	0.46703	T	0.11	-26.394	14.8615	0.70384	0.0:0.0:0.0:1.0	.	264	E5RIG2	.	F	264;264;126;264;264;264	ENSP00000383047:I264F;ENSP00000430733:I264F;ENSP00000441462:I264F;ENSP00000446243:I264F;ENSP00000441675:I264F	ENSP00000320445:I126F	I	-	1	0	CSMD1	3842861	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.098000	0.57748	2.101000	0.63845	0.460000	0.39030	ATC		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	13	0	0	0	1	0	6	13				
LYN	4067	broad.mit.edu	37	8	56864542	56864542	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:56864542G>A	ENST00000519728.1	+	7	801	c.505G>A	c.(505-507)Gtc>Atc	p.V169I	LYN_ENST00000520220.2_Missense_Mutation_p.V148I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	169	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTCTCTGTCTGTCAGAGACTT	0.388																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(442-444)Gtc>Atc		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							124.0	129.0	127.0					8																	56864542		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56864542G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.505G>A	8.37:g.56864542G>A	ENSP00000428924:p.Val169Ile					LYN_ENST00000519728.1_Missense_Mutation_p.V169I	p.V148I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		7	716	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	169			SH2.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.442G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	5.180	0.218850	0.09810	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.90844	-2.74;-2.74	6.01	5.13	0.70059	SH2 motif (5);	0.158803	0.53938	D	0.000059	D	0.84777	0.5547	L	0.45698	1.435	0.36126	D	0.845823	B;B	0.17667	0.023;0.001	B;B	0.25405	0.06;0.023	T	0.78071	-0.2347	10	0.20046	T	0.44	.	5.7983	0.18399	0.2498:0.0:0.7502:0.0	.	239;169	Q6NUK7;P07948	.;LYN_HUMAN	I	169;148	ENSP00000428924:V169I;ENSP00000428424:V148I	ENSP00000428924:V169I	V	+	1	0	LYN	57027096	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	4.061000	0.57485	2.861000	0.98227	0.650000	0.86243	GTC		0.388	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		4	145	0	0	0	1	0	4	145				
SLC24A4	123041	broad.mit.edu	37	14	92958551	92958551	+	Silent	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr14:92958551C>T	ENST00000532405.1	+	16	1909	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	SLC24A4_ENST00000531433.1_Silent_p.S542S|SLC24A4_ENST00000393265.2_Silent_p.S497S|SLC24A4_ENST00000351924.5_Silent_p.S525S|SLC24A4_ENST00000298877.1_Silent_p.S544S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	561					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGTCTATTCCGTGGTCCTGT	0.507																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1681-1683)tcC>tcT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							166.0	160.0	162.0					14																	92958551		2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92958551C>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1683C>T	14.37:g.92958551C>T						SLC24A4_ENST00000531433.1_Silent_p.S542S|SLC24A4_ENST00000393265.2_Silent_p.S497S|SLC24A4_ENST00000298877.1_Silent_p.S544S|SLC24A4_ENST00000351924.5_Silent_p.S525S	p.S561S			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	16	1909	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	561					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.1683C>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729456	0.15507	.	.	ENSG00000140090	ENST00000525557	.	.	.	4.33	-2.06	0.07298	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	.	.	.	.	0.2289	0.00177	0.324:0.2187:0.2254:0.2319	.	.	.	.	C	427	.	.	R	+	1	0	SLC24A4	92028304	0.000000	0.05858	0.977000	0.42913	0.768000	0.43524	-3.389000	0.00488	-0.406000	0.07588	-0.273000	0.10243	CGT		0.507	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		13	30	0	0	0	1	0	13	30				
ZNF544	27300	broad.mit.edu	37	19	58772618	58772618	+	Missense_Mutation	SNP	C	C	T	rs565406296		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:58772618C>T	ENST00000596652.1	+	6	880	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	ZNF544_ENST00000600220.1_Missense_Mutation_p.H188Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000269829.4_Missense_Mutation_p.H216Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.H74Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.H188Y|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.H188Y|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGTGAGAGTCATCAGTGTGC	0.378																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(646-648)Cat>Tat		zinc finger protein 544							63.0	64.0	64.0					19																	58772618		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772618C>T	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.646C>T	19.37:g.58772618C>T	ENSP00000469635:p.His216Tyr					ZNF544_ENST00000415203.2_Missense_Mutation_p.H188Y|ZNF544_ENST00000596652.1_Missense_Mutation_p.H216Y|ZNF544_ENST00000600220.1_Missense_Mutation_p.H188Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.H74Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.H188Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA	p.H216Y	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1120	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	216					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.646C>T	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	8.965	0.971437	0.18736	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07021	3.28;3.23	3.41	-6.83	0.01693	.	.	.	.	.	T	0.04679	0.0127	L	0.41492	1.28	0.09310	N	1	B;B;B	0.19073	0.001;0.016;0.033	B;B;B	0.10450	0.001;0.002;0.005	T	0.43360	-0.9396	9	0.28530	T	0.3	.	0.3754	0.00386	0.2425:0.1554:0.2399:0.3621	.	188;188;216	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	Y	216;188	ENSP00000269829:H216Y;ENSP00000394341:H188Y	ENSP00000269829:H216Y	H	+	1	0	ZNF544	63464430	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.967000	0.03821	-1.245000	0.02513	-0.208000	0.12717	CAT		0.378	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		28	48	0	0	0	1	0	28	48				
ATRX	546	broad.mit.edu	37	X	76845372	76845372	+	Missense_Mutation	SNP	A	A	C	rs122445110		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chrX:76845372A>C	ENST00000373344.5	-	27	6363	c.6149T>G	c.(6148-6150)aTt>aGt	p.I2050S	ATRX_ENST00000395603.3_Missense_Mutation_p.I2012S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2050	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.		I -> T (in MRXSHF1; originally reported as Carpenter-Waziri syndrome). {ECO:0000269|PubMed:10398237}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAATCTTCAATCAAGTCCAG	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM990282	ATRX	M	rs122445110	c.(6148-6150)aTt>aGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						56.0	53.0	54.0					X																	76845372		2203	4292	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76845372A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6149T>G	X.37:g.76845372A>C	ENSP00000362441:p.Ile2050Ser					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I2012S	p.I2050S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			27	6363	-			2050		I -> T (in MRXSHF1; originally reported as Carpenter-Waziri syndrome).	Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6149T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256629	0.59321	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93547	-3.24;-3.24	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	H	0.95574	3.69	0.80722	D	1	D;D	0.55605	0.963;0.972	P;P	0.51701	0.649;0.677	D	0.97350	0.9963	10	0.87932	D	0	-3.4812	13.9752	0.64268	1.0:0.0:0.0:0.0	.	2012;2050	P46100-4;P46100	.;ATRX_HUMAN	S	2050;2012	ENSP00000362441:I2050S;ENSP00000378967:I2012S	ENSP00000362441:I2050S	I	-	2	0	ATRX	76732028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.817000	0.91985	1.762000	0.52044	0.425000	0.28330	ATT		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	9	0	0	0	1	0	17	9				
KRTAP4-6	81871	broad.mit.edu	37	17	39296600	39296600	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr17:39296600C>T	ENST00000345847.4	-	1	139	c.140G>A	c.(139-141)aGa>aAa	p.R47K		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)		p.R47K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCACTGGGGTCTGCAGCAGCT	0.682																																						ENST00000345847.4																			1	Substitution - Missense(1)	p.R47K(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(139-141)aGa>aAa		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296600C>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.140G>A	17.37:g.39296600C>T	ENSP00000328270:p.Arg47Lys						p.R47K	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	139	-			47			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.140G>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	6.616	0.482131	0.12581	.	.	ENSG00000198090	ENST00000345847	T	0.00590	6.36	5.01	2.62	0.31277	.	2.335370	0.02364	N	0.077186	T	0.00875	0.0029	M	0.67625	2.065	0.09310	N	1	.	.	.	.	.	.	T	0.62435	-0.6855	8	0.05959	T	0.93	.	4.9322	0.13923	0.1734:0.6205:0.0:0.2061	.	.	.	.	K	47	ENSP00000328270:R47K	ENSP00000328270:R47K	R	-	2	0	KRTAP4-6	36550126	0.019000	0.18553	0.192000	0.23308	0.098000	0.18820	1.906000	0.39887	1.096000	0.41439	0.650000	0.86243	AGA		0.682	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	50	0	0	0	1	0	3	50				
OR6N2	81442	broad.mit.edu	37	1	158747186	158747186	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr1:158747186C>A	ENST00000339258.1	-	1	239	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAGACAACATCTTAGGGATAG	0.458																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(238-240)aaG>aaT		olfactory receptor, family 6, subfamily N, member 2							157.0	150.0	153.0					1																	158747186		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747186C>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.240G>T	1.37:g.158747186C>A	ENSP00000344101:p.Lys80Asn						p.K80N	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	239	-	all_hematologic(112;0.0378)		80					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.240G>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166648	0.38217	.	.	ENSG00000188340	ENST00000339258	T	0.03330	3.97	5.17	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001174	T	0.02688	0.0081	M	0.73372	2.23	0.29382	N	0.863215	D	0.67145	0.996	P	0.56434	0.798	T	0.33033	-0.9884	10	0.20046	T	0.44	-10.8782	2.1292	0.03746	0.1365:0.5027:0.1327:0.228	.	80	Q8NGY6	OR6N2_HUMAN	N	80	ENSP00000344101:K80N	ENSP00000344101:K80N	K	-	3	2	OR6N2	157013810	0.000000	0.05858	0.996000	0.52242	0.908000	0.53690	-2.966000	0.00670	0.060000	0.16281	0.650000	0.86243	AAG		0.458	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			9	80	1	0	0.00621372	1	0.00660207	9	80				
WHSC1L1	54904	broad.mit.edu	37	8	38173511	38173511	+	Silent	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:38173511G>A	ENST00000317025.8	-	10	2422	c.1905C>T	c.(1903-1905)cgC>cgT	p.R635R	WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Silent_p.R635R|WHSC1L1_ENST00000527502.1_Silent_p.R635R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGTTGAGGCGCGACTCCTTT	0.408			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1903-1905)cgC>cgT		Wolf-Hirschhorn syndrome candidate 1-like 1							133.0	127.0	129.0					8																	38173511		2057	4209	6266	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38173511G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1905C>T	8.37:g.38173511G>A						WHSC1L1_ENST00000527502.1_Silent_p.R635R|WHSC1L1_ENST00000433384.2_Silent_p.R635R	p.R635R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		10	2422	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	635					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.1905C>T	CCDS43729.1																																																																																				0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		13	65	0	0	0	1	0	13	65				
MMP9	4318	broad.mit.edu	37	20	44641960	44641960	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr20:44641960C>T	ENST00000372330.3	+	9	1416	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T466M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCTCCCCCGACGGTCTGCCCC	0.682											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372330.3																			1	Substitution - Missense(1)	p.T466M(1)	large_intestine(1)	breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1396-1398)aCg>aTg		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						44.0	59.0	54.0					20																	44641960		2186	4273	6459	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641960C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1397C>T	20.37:g.44641960C>T	ENSP00000361405:p.Thr466Met		OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.T466M	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			9	1416	+		Myeloproliferative disorder(115;0.0122)	466					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1397C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938940	0.34189	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.22134	1.97	4.63	3.62	0.41486	.	.	.	.	.	T	0.19604	0.0471	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.50231	0.635	T	0.11494	-1.0585	9	0.45353	T	0.12	.	13.8455	0.63466	0.1634:0.8366:0.0:0.0	.	466	P14780	MMP9_HUMAN	M	466;111	ENSP00000361405:T466M	ENSP00000361405:T466M	T	+	2	0	MMP9	44075367	0.002000	0.14202	0.027000	0.17364	0.157000	0.22087	0.842000	0.27627	2.376000	0.81061	0.655000	0.94253	ACG		0.682	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			4	61	0	0	0	1	0	4	61				
SPTBN1	6711	broad.mit.edu	37	2	54856829	54856829	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr2:54856829A>G	ENST00000356805.4	+	14	2839	c.2558A>G	c.(2557-2559)aAg>aGg	p.K853R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.K840R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	853					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCCCTGTACAAGATGTTCAGC	0.602																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2518-2520)aAg>aGg		spectrin, beta, non-erythrocytic 1							36.0	37.0	37.0					2																	54856829		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856829A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2558A>G	2.37:g.54856829A>G	ENSP00000349259:p.Lys853Arg					SPTBN1_ENST00000356805.4_Missense_Mutation_p.K853R	p.K840R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2904	+			853					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2519A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.774824	0.31411	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.51325	0.71;0.71	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	N	0.17594	0.5	0.39430	D	0.967065	B;B	0.14438	0.008;0.01	B;B	0.25405	0.017;0.06	T	0.16928	-1.0386	10	0.29301	T	0.29	.	15.9192	0.79547	1.0:0.0:0.0:0.0	.	840;853	Q01082-3;Q01082	.;SPTB2_HUMAN	R	853;840	ENSP00000349259:K853R;ENSP00000334156:K840R	ENSP00000334156:K840R	K	+	2	0	SPTBN1	54710333	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.421000	0.80204	2.179000	0.69175	0.528000	0.53228	AAG		0.602	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	25	0	0	0	1	0	3	25				
TMEM248	55069	broad.mit.edu	37	7	66410195	66410195	+	Missense_Mutation	SNP	G	G	A	rs374932648		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr7:66410195G>A	ENST00000341567.4	+	3	647	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	131						integral component of membrane (GO:0016021)											GGGTATTCCCGCAACGTCACC	0.557																																						ENST00000341567.4																			0											c.(391-393)cGc>cAc		transmembrane protein 248		G	HIS/ARG	0,4406		0,0,2203	103.0	101.0	101.0		392	5.8	1.0	7		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf42	NM_017994.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/315	66410195	1,13005	2203	4300	6503	SO:0001583	missense	55069							g.chr7:66410195G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.392G>A	7.37:g.66410195G>A	ENSP00000340668:p.Arg131His						p.R131H	NM_017994.4	NP_060464.1					3	647	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.392G>A	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069252	0.55539	0.0	1.16E-4	ENSG00000106609	ENST00000341567;ENST00000424964	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	N	0.20986	0.625	0.80722	D	1	B	0.23891	0.093	B	0.16722	0.016	T	0.40079	-0.9582	9	0.20519	T	0.43	-10.4256	19.0145	0.92888	0.0:0.0:1.0:0.0	.	131	Q9NWD8	CG042_HUMAN	H	131	.	ENSP00000340668:R131H	R	+	2	0	C7orf42	66047630	1.000000	0.71417	0.974000	0.42286	0.581000	0.36288	9.394000	0.97261	2.735000	0.93741	0.655000	0.94253	CGC		0.557	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	63	0	0	0	1	0	3	63				
KRT81	3887	broad.mit.edu	37	12	52682215	52682215	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr12:52682215T>A	ENST00000327741.5	-	4	733	c.665A>T	c.(664-666)aAg>aTg	p.K222M	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	222	Coil 1B.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGTCTGACTTGCGGAGGTA	0.617																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(664-666)aAg>aTg		keratin 81							115.0	115.0	115.0					12																	52682215		2203	4300	6503	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52682215T>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.665A>T	12.37:g.52682215T>A	ENSP00000369349:p.Lys222Met					KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.K222M	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	733	-			222			Coil 1B.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.665A>T	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326538	0.81690	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.91577	-2.87	4.78	3.62	0.41486	Filament (1);	0.000000	0.44483	U	0.000450	D	0.96349	0.8809	H	0.97415	4	0.40334	D	0.978969	D	0.65815	0.995	D	0.67900	0.954	D	0.95671	0.8723	10	0.87932	D	0	.	9.1658	0.37050	0.0:0.0923:0.0:0.9076	.	222	Q14533	KRT81_HUMAN	M	222	ENSP00000369349:K222M	ENSP00000369349:K222M	K	-	2	0	KRT81	50968482	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.212000	0.58514	0.673000	0.31224	0.374000	0.22700	AAG		0.617	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		8	90	0	0	0	1	0	8	90				
LILRB1	10859	broad.mit.edu	37	19	55144611	55144611	+	Missense_Mutation	SNP	G	G	A	rs376255659		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:55144611G>A	ENST00000396331.1	+	8	1460	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	LILRB1_ENST00000396315.1_Missense_Mutation_p.R368H|LILRB1_ENST00000448689.1_Missense_Mutation_p.R368H|LILRB1_ENST00000396332.4_Missense_Mutation_p.R368H|LILRB1_ENST00000434867.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R368H|LILRB1_ENST00000427581.2_Missense_Mutation_p.R404H|LILRB1_ENST00000396321.2_Missense_Mutation_p.R368H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R368H|LILRB1_ENST00000396327.3_Missense_Mutation_p.R368H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Missense_Mutation_p.R368H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	368	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.R368P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GACCCATGGCGTCTAAGATCA	0.557										HNSCC(37;0.09)			a|||	1	0.000199681	0.0	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.001					ENST00000396331.1																			1	Substitution - Missense(1)	p.R368P(1)	breast(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1102-1104)cGt>cAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							112.0	121.0	118.0					19																	55144611		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144611G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1103G>A	19.37:g.55144611G>A	ENSP00000379622:p.Arg368His	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_Missense_Mutation_p.R368H|LILRB1_ENST00000418536.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396315.1_Missense_Mutation_p.R368H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.R368H|LILRB1_ENST00000427581.2_Missense_Mutation_p.R404H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R368H|LILRB1_ENST00000434867.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396321.2_Missense_Mutation_p.R368H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R368H|LILRB1_ENST00000448689.1_Missense_Mutation_p.R368H	p.R368H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1460	+			368			Ig-like C2-type 4.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1103G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	3.340	-0.134886	0.06711	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07	2.08	-4.16	0.03869	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.707422	0.12047	N	0.504514	T	0.02807	0.0084	L	0.35487	1.065	0.09310	N	1	B;B;B;B;B	0.22683	0.013;0.005;0.073;0.005;0.003	B;B;B;B;B	0.19946	0.013;0.008;0.027;0.008;0.013	T	0.38607	-0.9653	10	0.32370	T	0.25	.	7.8613	0.29511	0.5795:0.0:0.4205:0.0	.	368;368;368;368;368	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	H	368;368;368;368;368;368;368;368;404;368;368	ENSP00000379614:R368H;ENSP00000391514:R368H;ENSP00000409968:R368H;ENSP00000379622:R368H;ENSP00000379618:R368H;ENSP00000315997:R368H;ENSP00000405243:R368H;ENSP00000379623:R368H;ENSP00000395004:R404H;ENSP00000379610:R368H;ENSP00000379608:R368H	ENSP00000315997:R368H	R	+	2	0	LILRB1	59836423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.342000	0.02645	-1.193000	0.02688	-4.466000	0.00005	CGT		0.557	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			27	30	0	0	0	1	0	27	30				
AFF3	3899	broad.mit.edu	37	2	100209989	100209989	+	Missense_Mutation	SNP	C	C	T	rs148703034		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr2:100209989C>T	ENST00000409236.2	-	13	2246	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T	AFF3_ENST00000317233.4_Missense_Mutation_p.A712T|AFF3_ENST00000356421.2_Missense_Mutation_p.A737T|AFF3_ENST00000409579.1_Missense_Mutation_p.A737T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	712					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCGTTGGCAGCGGCCTCCTTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		14125	0.0		0.001	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2134-2136)Gct>Act		AF4/FMR2 family, member 3		C	THR/ALA,THR/ALA	1,4403		0,1,2201	54.0	58.0	57.0		2209,2134	-1.3	0.0	2	dbSNP_134	57	10,8588		0,10,4289	yes	missense,missense	AFF3	NM_001025108.1,NM_002285.2	58,58	0,11,6490	TT,TC,CC		0.1163,0.0227,0.0846	benign,benign	737/1252,712/1227	100209989	11,12991	2202	4299	6501	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209989C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2134G>A	2.37:g.100209989C>T	ENSP00000387207:p.Ala712Thr					AFF3_ENST00000409236.1_Missense_Mutation_p.A712T|AFF3_ENST00000356421.2_Missense_Mutation_p.A737T|AFF3_ENST00000409579.1_Missense_Mutation_p.A737T	p.A712T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2369	-			712					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2134G>A	CCDS42723.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.128	-1.116553	0.01799	2.27E-4	0.001163	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.17	-1.34	0.09143	.	1.117090	0.06554	N	0.745573	T	0.38134	0.1029	N	0.17474	0.49	0.09310	N	1	B;B;B	0.15930	0.015;0.003;0.003	B;B;B	0.12837	0.008;0.003;0.002	T	0.12708	-1.0537	10	0.12766	T	0.61	.	3.1404	0.06453	0.1107:0.528:0.1074:0.2539	.	865;712;737	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	712;737;737;712;712;865;737	ENSP00000317421:A712T;ENSP00000348793:A737T;ENSP00000386834:A737T;ENSP00000387207:A712T	ENSP00000317421:A712T	A	-	1	0	AFF3	99576421	0.979000	0.34478	0.000000	0.03702	0.125000	0.20455	0.108000	0.15396	-0.659000	0.05359	-0.224000	0.12420	GCT		0.627	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		21	43	0	0	0	1	0	21	43				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	47	0	0	0	1	0	3	47				
COL5A1	1289	broad.mit.edu	37	9	137686952	137686952	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr9:137686952C>T	ENST00000371817.3	+	33	3139	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	909	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCAGGACCGCGGGGGCAGCG	0.627																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2725-2727)Cgg>Tgg		collagen, type V, alpha 1							52.0	59.0	57.0					9																	137686952		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137686952C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2725C>T	9.37:g.137686952C>T	ENSP00000360882:p.Arg909Trp						p.R909W	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	33	3139	+		Myeloproliferative disorder(178;0.0341)	909			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2725C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640156	0.67244	.	.	ENSG00000130635	ENST00000371817	D	0.94537	-3.45	4.43	3.42	0.39159	.	0.000000	0.64402	U	0.000001	D	0.96043	0.8711	M	0.69185	2.1	0.49798	D	0.999821	D	0.89917	1.0	D	0.83275	0.996	D	0.95286	0.8390	10	0.87932	D	0	.	9.5878	0.39528	0.6413:0.3587:0.0:0.0	.	909	P20908	CO5A1_HUMAN	W	909	ENSP00000360882:R909W	ENSP00000360882:R909W	R	+	1	2	COL5A1	136826773	0.595000	0.26857	0.991000	0.47740	0.862000	0.49288	1.169000	0.31871	0.793000	0.33875	0.297000	0.19635	CGG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	30	0	0	0	1	0	7	30				
PTPN5	84867	broad.mit.edu	37	11	18765570	18765570	+	Missense_Mutation	SNP	C	C	T	rs200135035		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:18765570C>T	ENST00000358540.2	-	4	704	c.274G>A	c.(274-276)Gct>Act	p.A92T	PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.A68T|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Missense_Mutation_p.A92T|PTPN5_ENST00000396167.2_Missense_Mutation_p.A92T|PTPN5_ENST00000396170.1_Missense_Mutation_p.A92T	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	92					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTGAGGCAGCGAACAGGCAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		19056	0.001		0.0	False		,,,				2504	0.0					ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(274-276)Gct>Act		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							64.0	67.0	66.0					11																	18765570		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18765570C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.274G>A	11.37:g.18765570C>T	ENSP00000351342:p.Ala92Thr					PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.A92T|PTPN5_ENST00000396168.1_Missense_Mutation_p.A68T|PTPN5_ENST00000396171.4_Missense_Mutation_p.A92T|PTPN5_ENST00000396167.2_Missense_Mutation_p.A92T	p.A92T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			4	1538	-			92					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.274G>A	CCDS7845.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.1	4.377493	0.82682	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T	0.06849	3.72;3.25;3.72;3.25;3.74	4.76	4.76	0.60689	.	0.113438	0.39687	N	0.001291	T	0.07007	0.0178	N	0.12182	0.205	0.35531	D	0.80226	D;D	0.56968	0.978;0.978	P;P	0.45099	0.469;0.469	T	0.41928	-0.9481	10	0.39692	T	0.17	-7.7637	15.2992	0.73933	0.0:1.0:0.0:0.0	.	92;92	P54829;B3KXG7	PTN5_HUMAN;.	T	92;92;92;92;68	ENSP00000351342:A92T;ENSP00000379473:A92T;ENSP00000379474:A92T;ENSP00000379470:A92T;ENSP00000379471:A68T	ENSP00000351342:A92T	A	-	1	0	PTPN5	18722146	1.000000	0.71417	0.847000	0.33407	0.922000	0.55478	3.069000	0.50026	2.361000	0.80049	0.491000	0.48974	GCT		0.657	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		17	39	0	0	0	1	0	17	39				
EVC2	132884	broad.mit.edu	37	4	5691059	5691059	+	Silent	SNP	C	C	T	rs146658261		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:5691059C>T	ENST00000344408.5	-	5	584	c.531G>A	c.(529-531)tcG>tcA	p.S177S	EVC2_ENST00000344938.1_Silent_p.S177S|EVC2_ENST00000310917.2_Silent_p.S97S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	177					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTGCTTCACTCGACCCAGACA	0.547																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(289-291)tcG>tcA		Ellis van Creveld syndrome 2		C	,	1,4405	2.1+/-5.4	0,1,2202	75.0	63.0	67.0		291,531	1.7	0.5	4	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EVC2	NM_001166136.1,NM_147127.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	97/1229,177/1309	5691059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5691059C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.531G>A	4.37:g.5691059C>T						EVC2_ENST00000344408.5_Silent_p.S177S|EVC2_ENST00000344938.1_Silent_p.S177S	p.S97S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			5	1022	-			177					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.291G>A	CCDS3382.2																																																																																				0.547	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		5	51	0	0	0	1	0	5	51				
MYH3	4621	broad.mit.edu	37	17	10537029	10537029	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr17:10537029T>G	ENST00000583535.1	-	33	4613	c.4526A>C	c.(4525-4527)gAg>gCg	p.E1509A	MYH3_ENST00000226209.7_Missense_Mutation_p.E1509A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1509					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCTGCTATCTCCTCTGTAAA	0.408																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(4525-4527)gAg>gCg		myosin, heavy chain 3, skeletal muscle, embryonic							212.0	190.0	197.0					17																	10537029		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10537029T>G		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4526A>C	17.37:g.10537029T>G	ENSP00000464317:p.Glu1509Ala					MYH3_ENST00000226209.7_Missense_Mutation_p.E1509A	p.E1509A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			33	4613	-			1509					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4526A>C	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450121	0.84101	.	.	ENSG00000109063	ENST00000226209	D	0.82984	-1.67	5.52	5.52	0.82312	Myosin tail (1);	.	.	.	.	D	0.93585	0.7952	H	0.95402	3.665	0.51233	D	0.999917	D	0.71674	0.998	D	0.70935	0.971	D	0.95381	0.8473	9	0.87932	D	0	.	15.9441	0.79779	0.0:0.0:0.0:1.0	.	1509	P11055	MYH3_HUMAN	A	1509	ENSP00000226209:E1509A	ENSP00000226209:E1509A	E	-	2	0	MYH3	10477754	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.925000	0.87563	2.225000	0.72522	0.460000	0.39030	GAG		0.408	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		46	75	0	0	0	1	0	46	75				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	35	0	0	0	1	0	3	35				
MARCH6	10299	broad.mit.edu	37	5	10414606	10414606	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr5:10414606C>G	ENST00000274140.5	+	20	2090	c.1958C>G	c.(1957-1959)aCt>aGt	p.T653S	MARCH6_ENST00000510792.1_Missense_Mutation_p.T351S|MARCH6_ENST00000449913.2_Missense_Mutation_p.T605S|MARCH6_ENST00000503788.1_Missense_Mutation_p.T548S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	653					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATCTGCCTTACTTTACCAGGT	0.383																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1957-1959)aCt>aGt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							215.0	189.0	198.0					5																	10414606		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10414606C>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1958C>G	5.37:g.10414606C>G	ENSP00000274140:p.Thr653Ser					MARCH6_ENST00000449913.2_Missense_Mutation_p.T605S|MARCH6_ENST00000510792.1_Missense_Mutation_p.T351S|MARCH6_ENST00000503788.1_Missense_Mutation_p.T548S	p.T653S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			20	2090	+			653					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1958C>G	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963876	0.74131	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.80764	0.982;0.973;0.994;0.913	T	0.62955	-0.6744	10	0.21014	T	0.42	-23.7602	19.7075	0.96079	0.0:1.0:0.0:0.0	.	548;605;233;653	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	S	605;548;653;351	ENSP00000414643:T605S;ENSP00000425930:T548S;ENSP00000274140:T653S;ENSP00000424512:T351S	ENSP00000274140:T653S	T	+	2	0	MARCH6	10467606	1.000000	0.71417	0.957000	0.39632	0.998000	0.95712	5.623000	0.67757	2.643000	0.89663	0.655000	0.94253	ACT		0.383	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		6	63	0	0	0	1	0	6	63				
FUT3	2525	broad.mit.edu	37	19	5844538	5844538	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:5844538T>C	ENST00000303225.6	-	3	947	c.313A>G	c.(313-315)Atg>Gtg	p.M105V	FUT3_ENST00000589620.1_Missense_Mutation_p.M105V|FUT3_ENST00000593144.1_5'Flank|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589918.1_Missense_Mutation_p.M105V|FUT3_ENST00000458379.2_Missense_Mutation_p.M105V	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	105			T -> M (in Le(-); dbSNP:rs778986). {ECO:0000269|PubMed:15057824, ECO:0000269|PubMed:8240322, ECO:0000269|PubMed:8801770, ECO:0000269|PubMed:9268337, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACGATGACCATGTCTGCCTGT	0.607																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(313-315)Atg>Gtg		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)							160.0	130.0	140.0					19																	5844538		2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844538T>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.313A>G	19.37:g.5844538T>C	ENSP00000305603:p.Met105Val					FUT3_ENST00000589620.1_Missense_Mutation_p.M105V|FUT3_ENST00000458379.2_Missense_Mutation_p.M105V|FUT3_ENST00000589918.1_Missense_Mutation_p.M105V	p.M105V	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	947	-			105		T -> M (in Le(-); dbSNP:rs778986).			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.313A>G	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	8.993	0.978135	0.18812	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.21734	1.99;1.99	2.24	1.14	0.20703	.	0.100459	0.41823	D	0.000807	T	0.04770	0.0129	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38735	-0.9647	10	0.45353	T	0.12	.	8.9353	0.35695	0.0:0.8488:0.0:0.1512	.	105	B3GVC1	.	V	105	ENSP00000305603:M105V;ENSP00000416443:M105V	ENSP00000305603:M105V	M	-	1	0	FUT3	5795538	0.133000	0.22466	0.000000	0.03702	0.000000	0.00434	4.146000	0.58072	-0.133000	0.11537	-2.577000	0.00169	ATG		0.607	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		4	79	0	0	0	1	0	4	79				
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:73849053C>T	ENST00000523207.1	+	3	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	488					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATCACCTGTCGCCAAGCCGG	0.527																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1462-1464)tCg>tTg		potassium voltage-gated channel, Shab-related subfamily, member 2							86.0	94.0	91.0					8																	73849053		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849053C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1463C>T	8.37:g.73849053C>T	ENSP00000430846:p.Ser488Leu						p.S488L	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2051	+	Breast(64;0.137)		488					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1463C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936967	0.73557	.	.	ENSG00000182674	ENST00000523207	T	0.38240	1.15	5.47	5.47	0.80525	.	1.757760	0.03216	N	0.176869	T	0.65365	0.2684	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.70016	0.967	T	0.46596	-0.9180	10	0.42905	T	0.14	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	488	Q92953	KCNB2_HUMAN	L	488	ENSP00000430846:S488L	ENSP00000430846:S488L	S	+	2	0	KCNB2	74011607	1.000000	0.71417	0.972000	0.41901	0.573000	0.36030	7.666000	0.83877	2.553000	0.86117	0.655000	0.94253	TCG		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		6	58	0	0	0	1	0	6	58				
F5	2153	broad.mit.edu	37	1	169493105	169493105	+	Silent	SNP	A	A	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr1:169493105A>T	ENST00000367797.3	-	20	6027	c.5826T>A	c.(5824-5826)ggT>ggA	p.G1942G	F5_ENST00000367796.3_Silent_p.G1947G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1942	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATAAGATCCACCATTGTTTA	0.348																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5839-5841)ggT>ggA		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						134.0	146.0	142.0					1																	169493105		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169493105A>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5826T>A	1.37:g.169493105A>T						F5_ENST00000367797.3_Silent_p.G1942G	p.G1947G			P12259	FA5_HUMAN			20	6042	-	all_hematologic(923;0.208)		1942			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.5841T>A	CCDS1281.1																																																																																				0.348	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	106	0	0	0	1	0	5	106				
CSMD1	64478	broad.mit.edu	37	8	3855496	3855496	+	Silent	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:3855496G>A	ENST00000520002.1	-	5	1302	c.747C>T	c.(745-747)gtC>gtT	p.V249V	CSMD1_ENST00000539096.1_Silent_p.V249V|CSMD1_ENST00000602723.1_Silent_p.V249V|CSMD1_ENST00000400186.3_Silent_p.V249V|CSMD1_ENST00000542608.1_Silent_p.V249V|CSMD1_ENST00000602557.1_Silent_p.V249V|CSMD1_ENST00000537824.1_Silent_p.V249V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	249	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTCAGTGAAGACCAGCGCAA	0.542																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(745-747)gtC>gtT		CUB and Sushi multiple domains 1							54.0	57.0	56.0					8																	3855496		2102	4264	6366	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3855496G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.747C>T	8.37:g.3855496G>A						CSMD1_ENST00000539096.1_Silent_p.V249V|CSMD1_ENST00000602557.1_Silent_p.V249V|CSMD1_ENST00000542608.1_Silent_p.V249V|CSMD1_ENST00000400186.3_Silent_p.V249V|CSMD1_ENST00000537824.1_Silent_p.V249V|CSMD1_ENST00000602723.1_Silent_p.V249V	p.V249V			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	5	1302	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	249			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.747C>T																																																																																					0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	9	0	0	0	1	0	7	9				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	4	1	0	0.150653	1	0.150653	4	4				
PARP4	143	broad.mit.edu	37	13	25075938	25075938	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr13:25075938A>G	ENST00000381989.3	-	3	272	c.167T>C	c.(166-168)cTg>cCg	p.L56P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	56	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTACTGACTCAGAACATCAGC	0.318																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(166-168)cTg>cCg		poly (ADP-ribose) polymerase family, member 4							97.0	101.0	100.0					13																	25075938		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25075938A>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.167T>C	13.37:g.25075938A>G	ENSP00000371419:p.Leu56Pro						p.L56P	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	3	272	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	56			BRCT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.167T>C	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555445	0.45487	.	.	ENSG00000102699	ENST00000381989	T	0.80480	-1.38	4.89	4.89	0.63831	BRCT (4);	0.000000	0.56097	D	0.000025	D	0.88411	0.6429	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89396	0.3692	10	0.66056	D	0.02	-10.3814	12.5062	0.55981	1.0:0.0:0.0:0.0	.	56	Q9UKK3	PARP4_HUMAN	P	56	ENSP00000371419:L56P	ENSP00000371419:L56P	L	-	2	0	PARP4	23973938	1.000000	0.71417	0.163000	0.22734	0.412000	0.31113	4.821000	0.62679	2.038000	0.60285	0.533000	0.62120	CTG		0.318	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		7	62	0	0	0	1	0	7	62				
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	A	rs368456734		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:3452610G>A	ENST00000443272.2	+	8	1266	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	NFIC_ENST00000589123.1_Silent_p.P396P|NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652																																						ENST00000589123.1																			2	Substitution - coding silent(2)	p.P396P(2)	lung(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1186-1188)ccG>ccA		nuclear factor I/C (CCAAT-binding transcription factor)		G	,	1,4405	2.1+/-5.4	0,1,2202	144.0	127.0	133.0		1215,1188	-1.1	1.0	19		133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NFIC	NM_005597.2,NM_205843.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	405/429,396/500	3452610	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452610G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1215G>A	19.37:g.3452610G>A						NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P	p.P396P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1308	+		Hepatocellular(1079;0.137)	405					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.1188G>A	CCDS59330.1																																																																																				0.652	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		4	144	0	0	0	1	0	4	144				
DNHD1	144132	broad.mit.edu	37	11	6593109	6593109	+	Nonsense_Mutation	SNP	A	A	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:6593109A>T	ENST00000527990.2	+	41	14155	c.14155A>T	c.(14155-14157)Aag>Tag	p.K4719*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.K4719*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4719					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGCACCGCTAAGCTGCAGAG	0.617																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(14155-14157)Aag>Tag		dynein heavy chain domain 1							130.0	135.0	133.0					11																	6593109		2120	4234	6354	SO:0001587	stop_gained	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6593109A>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14155A>T	11.37:g.6593109A>T	ENSP00000436180:p.Lys4719*					DNHD1_ENST00000527990.2_Nonsense_Mutation_p.K4719*	p.K4719*	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14719	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4719					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	c.14155A>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	56	25.934940	0.99967	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	.	.	.	4.75	3.6	0.41247	.	0.396441	0.24386	N	0.038963	.	.	.	.	.	.	0.44402	D	0.997317	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-4.1972	6.1469	0.20291	0.7297:0.1766:0.0938:0.0	.	.	.	.	X	4719;4719;987	.	ENSP00000254579:K4719X	K	+	1	0	DNHD1	6549685	0.680000	0.27605	0.415000	0.26534	0.731000	0.41821	1.765000	0.38481	1.997000	0.58415	0.533000	0.62120	AAG		0.617	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		32	55	0	0	0	1	0	32	55				
KMT2C	58508	broad.mit.edu	37	7	151879016	151879016	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr7:151879016delG	ENST00000262189.6	-	36	6147	c.5929delC	c.(5929-5931)caafs	p.Q1977fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.Q1977fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1977	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGGGAAATTGATCTGTCATC	0.458																																						ENST00000355193.2																			0											c.(5929-5931)aafs		lysine (K)-specific methyltransferase 2C							215.0	223.0	220.0					7																	151879016		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151879016delG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5929delC	7.37:g.151879016delG	ENSP00000262189:p.Gln1977fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.Q1977fs	p.Q1977fs							36	6147	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.5929delC	CCDS5931.1																																																																																				0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			96	117						96	117	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49447072	49447073	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr12:49447072_49447073insA	ENST00000301067.7	-	7	870_871	c.871_872insT	c.(871-873)tgtfs	p.C291fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	291	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACACGTCTCACAAACCAACATC	0.455																																						ENST00000301067.7																			0											c.(871-873)tgafs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49447072_49447073insA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.872dupT	12.37:g.49447075_49447075dupA	ENSP00000301067:p.Cys291fs						p.*291fs	NM_003482.3	NP_003473.3					7	870_871	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.871_872insT	CCDS44873.1																																																																																				0.455	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			35	50						35	50	---	---	---	---
GLIS2	84662	broad.mit.edu	37	16	4387464	4387464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr16:4387464delC	ENST00000262366.3	+	8	2335	c.1514delC	c.(1513-1515)gccfs	p.A505fs	RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Frame_Shift_Del_p.A505fs|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	505					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAGGCGTTGGCCCCTGGCTGG	0.697																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1513-1515)gcfs		GLIS family zinc finger 2							11.0	11.0	11.0					16																	4387464		2177	4254	6431	SO:0001589	frameshift_variant	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4387464delC	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.1514delC	16.37:g.4387464delC	ENSP00000262366:p.Ala505fs					GLIS2_ENST00000433375.1_Frame_Shift_Del_p.A505fs|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron	p.A505fs			Q9BZE0	GLIS2_HUMAN			8	2335	+			505					B3KX84	Frame_Shift_Del	DEL	ENST00000262366.3	37	c.1514delC	CCDS10511.1																																																																																				0.697	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		2	4						2	4	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		2	4						2	4	---	---	---	---
