#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
EPHB2	2048	broad.mit.edu	37	1	23111326	23111326	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:23111326G>A	ENST00000400191.3	+	3	586	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	EPHB2_ENST00000374630.3_Missense_Mutation_p.V190M|EPHB2_ENST00000374627.1_Missense_Mutation_p.V184M|EPHB2_ENST00000544305.1_Missense_Mutation_p.V190M|EPHB2_ENST00000374632.3_Missense_Mutation_p.V190M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	190	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTCATCGCCGTGCGTGTCTT	0.622																																						uc009vqj.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(568-570)Gtg>Atg		Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.							42.0	36.0	38.0					1																	23111326		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111326G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.568G>A	1.37:g.23111326G>A	ENSP00000383053:p.Val190Met					EPHB2_uc001bge.3_Missense_Mutation_p.V190M|EPHB2_uc001bgf.3_Missense_Mutation_p.V190M|EPHB2_uc010odu.2_Missense_Mutation_p.V190M	p.V190M	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	2	713	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	190			Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.568G>A		.	.	.	.	.	.	.	.	.	.	G	24.4	4.522196	0.85600	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14	5.28	5.28	0.74379	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.89163	3.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.31861	-0.9928	10	0.87932	D	0	.	17.6478	0.88153	0.0:0.0:1.0:0.0	.	190;190;208;190	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	190;190;190;190;190;184	ENSP00000444174:V190M;ENSP00000363761:V190M;ENSP00000383053:V190M;ENSP00000363763:V190M;ENSP00000363758:V184M	ENSP00000363755:V190M	V	+	1	0	EPHB2	22983913	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	9.657000	0.98554	2.750000	0.94351	0.585000	0.79938	GTG		0.622	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
PTPRU	10076	broad.mit.edu	37	1	29606627	29606627	+	Silent	SNP	G	G	A	rs201241001	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:29606627G>A	ENST00000345512.3	+	11	1971	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PTPRU_ENST00000323874.8_Silent_p.P614P|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.P614P|PTPRU_ENST00000460170.2_Silent_p.P614P|PTPRU_ENST00000356870.3_Silent_p.P614P|PTPRU_ENST00000373779.3_Silent_p.P614P	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	614	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGAGGCCGGCACAGGGCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		18027	0.0		0.002	False		,,,				2504	0.0					uc001bru.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1840-1842)ccG>ccA		Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.		G	,,,	0,4406		0,0,2203	49.0	52.0	51.0		1842,1842,1842,1842	-3.5	1.0	1		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	614/1434,614/1447,614/1441,614/1437	29606627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29606627G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1842G>A	1.37:g.29606627G>A						PTPRU_uc009vtq.3_Silent_p.P614P|PTPRU_uc009vtr.3_Silent_p.P614P|PTPRU_uc001brw.3_Silent_p.P614P	p.P614P	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	10	1971	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	614			Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.1842G>A	CCDS334.1																																																																																				0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
RPL5	6125	broad.mit.edu	37	1	93298990	93298990	+	Nonsense_Mutation	SNP	C	C	A	rs148673599	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:93298990C>A	ENST00000370321.3	+	2	138	c.48C>A	c.(46-48)taC>taA	p.Y16*		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTAAGAGATACCAAGTGAAAT	0.318																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9	GRCh37	CM086905	RPL5	M	rs148673599	c.(46-48)taC>taA		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							95.0	103.0	100.0					1																	93298990		2203	4300	6503	SO:0001587	stop_gained	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93298990C>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.48C>A	1.37:g.93298990C>A	ENSP00000359345:p.Tyr16*					FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	p.Y16*	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	1	126	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	16					Q32LZ3|Q53HH6|Q9H3F4	Nonsense_Mutation	SNP	ENST00000370321.3	37	c.48C>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118785	0.94385	.	.	ENSG00000122406	ENST00000370321	.	.	.	4.69	2.78	0.32641	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9744	0.47456	0.0:0.8584:0.0:0.1416	.	.	.	.	X	16	.	ENSP00000359345:Y16X	Y	+	3	2	RPL5	93071578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.314000	0.51943	2.141000	0.66446	0.561000	0.74099	TAC		0.318	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	
SYCP1	6847	broad.mit.edu	37	1	115401212	115401212	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:115401212G>A	ENST00000369522.3	+	6	576	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SYCP1_ENST00000369518.1_Silent_p.E112E	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	112					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTATAAGGAGGCTGAAAAGA	0.303																																						uc001efr.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(334-336)gaG>gaA		Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.							73.0	77.0	76.0					1																	115401212		2203	4300	6503	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401212G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.336G>A	1.37:g.115401212G>A						SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.E112E|SYCP1_uc009wgw.3_Silent_p.E112E	p.E112E	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	545	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	112					O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.336G>A	CCDS879.1																																																																																				0.303	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SPAG17	200162	broad.mit.edu	37	1	118524021	118524021	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:118524021A>G	ENST00000336338.5	-	43	5941	c.5876T>C	c.(5875-5877)tTc>tCc	p.F1959S	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1959						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGTGGCTTGAAATCTAGAAA	0.338																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5875-5877)tTc>tCc		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							78.0	76.0	77.0					1																	118524021		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118524021A>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5876T>C	1.37:g.118524021A>G	ENSP00000337804:p.Phe1959Ser					SPAG17_uc021osr.1_Missense_Mutation_p.F469S	p.F1959S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	42	5944	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1959					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5876T>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	0.250	-1.007450	0.02112	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.15834	2.39	4.85	0.473	0.16763	.	1.749420	0.02636	N	0.104860	T	0.00998	0.0033	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	10	0.06365	T	0.9	.	4.6879	0.12767	0.2157:0.3802:0.404:0.0	.	1959	Q6Q759	SPG17_HUMAN	S	1959;439	ENSP00000337804:F1959S	ENSP00000337804:F1959S	F	-	2	0	SPAG17	118325544	0.000000	0.05858	0.054000	0.19295	0.014000	0.08584	-0.397000	0.07269	0.218000	0.20820	-0.248000	0.11899	TTC		0.338	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
CRP	1401	broad.mit.edu	37	1	159683681	159683681	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:159683681C>A	ENST00000255030.5	-	2	412	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_De_novo_Start_OutOfFrame|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'Flank	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	103	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CTTCAGGAACCTCGAATAATA	0.468																																						uc001ftw.3																			0		p.E103K(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(307-309)gaG>gaT		Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	Atorvastatin(DB01076)|Bezafibrate(DB01393)						112.0	112.0	112.0					1																	159683681		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683681C>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.309G>T	1.37:g.159683681C>A	ENSP00000255030:p.Glu103Asp					CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	p.E103D	NM_000567	NP_000558	P02741	CRP_HUMAN			1	413	-	all_hematologic(112;0.0429)		103			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.309G>T	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970346	0.18659	.	.	ENSG00000132693	ENST00000255030	T	0.58060	0.36	4.73	-2.62	0.06152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.320080	0.04710	N	0.417432	T	0.08223	0.0205	N	0.04880	-0.145	0.09310	N	0.999999	B	0.06786	0.001	B	0.11329	0.006	T	0.08411	-1.0723	10	0.11485	T	0.65	1.5928	5.5367	0.17016	0.4335:0.3532:0.0:0.2132	.	103	P02741	CRP_HUMAN	D	103	ENSP00000255030:E103D	ENSP00000255030:E103D	E	-	3	2	CRP	157950305	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.794000	0.01753	-1.482000	0.01860	-2.120000	0.00349	GAG		0.468	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567	
UHMK1	127933	broad.mit.edu	37	1	162492275	162492275	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:162492275G>C	ENST00000489294.1	+	8	1353	c.1195G>C	c.(1195-1197)Gtt>Ctt	p.V399L	UHMK1_ENST00000545294.1_Missense_Mutation_p.V325L|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	399	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGGAAGTTTGTTGTGGCTAC	0.423																																						uc001gcc.2																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(1195-1197)Gtt>Ctt		Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.							176.0	173.0	174.0					1																	162492275		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162492275G>C	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.1195G>C	1.37:g.162492275G>C	ENSP00000420270:p.Val399Leu					UHMK1_uc001gcd.3_Missense_Mutation_p.V325L|UHMK1_uc009wuu.2_3'UTR	p.V399L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		7	1391	+	all_hematologic(112;0.115)		399			RRM.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.1195G>C	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659816	0.88154	.	.	ENSG00000152332	ENST00000545294;ENST00000489294	T;D	0.83163	-0.81;-1.69	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	L	0.51853	1.615	.	.	.	P;D	0.61697	0.92;0.99	D;D	0.70935	0.935;0.971	D	0.87590	0.2490	9	0.87932	D	0	-15.0365	15.9723	0.80031	0.0:0.0:1.0:0.0	.	399;325	Q8TAS1;G3V1M1	UHMK1_HUMAN;.	L	325;399	ENSP00000441226:V325L;ENSP00000420270:V399L	ENSP00000420270:V399L	V	+	1	0	UHMK1	160758899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.694000	0.91293	2.788000	0.95919	0.650000	0.86243	GTT		0.423	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866	
AXDND1	126859	broad.mit.edu	37	1	179399690	179399690	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179399690A>C	ENST00000367618.3	+	14	1823	c.1436A>C	c.(1435-1437)gAg>gCg	p.E479A	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E479A	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	479										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTACAAGCGAGACACTGAAA	0.368																																						uc001gmo.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1435-1437)gAg>gCg		Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.							105.0	102.0	103.0					1																	179399690		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179399690A>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1436A>C	1.37:g.179399690A>C	ENSP00000356590:p.Glu479Ala					AXDND1_uc001gmn.2_Missense_Mutation_p.E267A|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E437A	p.E479A	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			13	1823	+			479					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1436A>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310717	0.23821	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.48522	2.1;0.81;2.12	5.09	3.96	0.45880	.	0.168093	0.51477	D	0.000096	T	0.43277	0.1240	M	0.66939	2.045	0.09310	N	1	B;B;B	0.29988	0.131;0.043;0.264	B;B;B	0.28011	0.039;0.016;0.085	T	0.41484	-0.9506	10	0.51188	T	0.08	-1.2421	7.9949	0.30263	0.9056:0.0:0.0944:0.0	.	437;479;479	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	A	479;437;479;413	ENSP00000356590:E479A;ENSP00000416712:E479A;ENSP00000391716:E413A	ENSP00000353471:E437A	E	+	2	0	AXDND1	177666313	0.012000	0.17670	0.005000	0.12908	0.003000	0.03518	2.024000	0.41049	0.879000	0.35944	-0.621000	0.04028	GAG		0.368	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
TDRD5	163589	broad.mit.edu	37	1	179620128	179620128	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179620128G>A	ENST00000367614.1	+	12	2286	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E643K|TDRD5_ENST00000444136.1_Missense_Mutation_p.E643K	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	643					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413																																						uc010pnp.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1927-1929)Gaa>Aaa		Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.							173.0	162.0	166.0					1																	179620128		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179620128G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1927G>A	1.37:g.179620128G>A	ENSP00000356586:p.Glu643Lys					TDRD5_uc021pfm.1_Missense_Mutation_p.E643K|TDRD5_uc001gnf.2_Missense_Mutation_p.E643K|TDRD5_uc021pfn.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.2_Missense_Mutation_p.E198K	p.E643K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN			11	2445	+			643					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1927G>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081819	0.94050	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.32753	2.63;2.63;2.81;1.44	5.91	5.91	0.95273	.	0.171223	0.52532	D	0.000078	T	0.53690	0.1812	M	0.66939	2.045	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.37776	-0.9691	10	0.25751	T	0.34	-36.3255	17.0178	0.86424	0.0:0.0:1.0:0.0	.	643;643	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	K	643;643;643;99	ENSP00000356586:E643K;ENSP00000294848:E643K;ENSP00000406052:E643K;ENSP00000410744:E99K	ENSP00000294848:E643K	E	+	1	0	TDRD5	177886751	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.965000	0.70387	2.793000	0.96121	0.655000	0.94253	GAA		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
ITIH2	3698	broad.mit.edu	37	10	7759687	7759687	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:7759687G>T	ENST00000358415.4	+	6	732	c.566G>T	c.(565-567)aGg>aTg	p.R189M	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.R178M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	189					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAAGTGGAGGAAGCTGGGC	0.522																																						uc001ijs.3																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(565-567)aGg>aTg		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.							160.0	156.0	157.0					10																	7759687		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7759687G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.566G>T	10.37:g.7759687G>T	ENSP00000351190:p.Arg189Met						p.R189M	NM_002216	NP_002207	P19823	ITIH2_HUMAN			5	728	+			189					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.566G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874439	0.91664	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.32753	4.3;1.44;4.31	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74957	-0.3487	10	0.87932	D	0	-24.3825	19.0542	0.93056	0.0:0.0:1.0:0.0	.	189	P19823	ITIH2_HUMAN	M	189;164;178	ENSP00000351190:R189M;ENSP00000388826:R164M;ENSP00000368906:R178M	ENSP00000351190:R189M	R	+	2	0	ITIH2	7799693	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.417000	0.97391	2.484000	0.83849	0.563000	0.77884	AGG		0.522	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
CTNNA3	29119	broad.mit.edu	37	10	68139038	68139038	+	Missense_Mutation	SNP	C	C	T	rs139378888		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:68139038C>T	ENST00000433211.2	-	12	1778	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R535H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACCCGCAGCACGGTCTAAATT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		18003	0.0		0.001	False		,,,				2504	0.0					uc009xpn.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1603-1605)cGt>cAt		Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	124.0	122.0	123.0		1604,1604	5.8	1.0	10	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	535/896,535/896	68139038	2,13004	2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68139038C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1604G>A	10.37:g.68139038C>T	ENSP00000389714:p.Arg535His					CTNNA3_uc001jmw.2_Missense_Mutation_p.R535H	p.R535H	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN			11	1727	-			535		R -> C (in dbSNP:rs41274090).				Missense_Mutation	SNP	ENST00000433211.2	37	c.1604G>A	CCDS7269.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.7	4.322256	0.81580	0.0	2.33E-4	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37584	1.19;1.19	5.77	5.77	0.91146	.	0.000000	0.53938	D	0.000050	T	0.57621	0.2066	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.54166	-0.8334	10	0.49607	T	0.09	-9.4648	17.477	0.87661	0.0:1.0:0.0:0.0	.	535	Q9UI47	CTNA3_HUMAN	H	535	ENSP00000389714:R535H;ENSP00000362849:R535H	ENSP00000362849:R535H	R	-	2	0	CTNNA3	67809044	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	6.068000	0.71201	2.728000	0.93425	0.650000	0.86243	CGT		0.458	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
PTEN	5728	broad.mit.edu	37	10	89711915	89711915	+	Missense_Mutation	SNP	A	A	G	rs397515374		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:89711915A>G	ENST00000371953.3	+	6	1890	c.533A>G	c.(532-534)tAt>tGt	p.Y178C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	178	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y178del(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTATTATTATAGCTACCTG	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		58	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(2)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y178del(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.Y178*(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y177fs*2(1)|p.G165_K342del(1)|p.Y178fs*5(1)	prostate(16)|central_nervous_system(13)|skin(9)|endometrium(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(532-534)tAt>tGt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141.0	143.0	142.0					10																	89711915		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711915A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.533A>G	10.37:g.89711915A>G	ENSP00000361021:p.Tyr178Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y178C	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1565	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	178			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.533A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628484	0.87560	.	.	ENSG00000171862	ENST00000371953	D	0.98835	-5.17	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99338	1.0911	9	.	.	.	-3.0371	16.0449	0.80714	1.0:0.0:0.0:0.0	.	178	P60484	PTEN_HUMAN	C	178	ENSP00000361021:Y178C	.	Y	+	2	0	PTEN	89701895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.862000	0.92283	2.198000	0.70561	0.482000	0.46254	TAT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
IFIT2	3433	broad.mit.edu	37	10	91066921	91066921	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:91066921A>T	ENST00000371826.3	+	2	1377	c.1208A>T	c.(1207-1209)cAg>cTg	p.Q403L	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	403					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAAATAAACCAGAAATCAAGG	0.398																																						uc009xts.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1207-1209)cAg>cTg		Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.							99.0	91.0	94.0					10																	91066921		1836	4101	5937	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066921A>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1208A>T	10.37:g.91066921A>T	ENSP00000360891:p.Gln403Leu					LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	p.Q403L	NM_001547	NP_001538	P09913	IFIT2_HUMAN			1	1383	+		Colorectal(252;0.0161)	403					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1208A>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755947	0.31137	.	.	ENSG00000119922	ENST00000371826	T	0.13901	2.55	4.58	2.18	0.27775	Tetratricopeptide-like helical (1);	2.128780	0.02559	U	0.096575	T	0.14874	0.0359	L	0.54323	1.7	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.25328	-1.0135	10	0.33141	T	0.24	-0.2251	6.2808	0.21007	0.7119:0.1348:0.1533:0.0	.	403	P09913	IFIT2_HUMAN	L	403	ENSP00000360891:Q403L	ENSP00000360891:Q403L	Q	+	2	0	IFIT2	91056901	0.000000	0.05858	0.002000	0.10522	0.403000	0.30841	-0.637000	0.05459	0.473000	0.27368	0.533000	0.62120	CAG		0.398	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547	
SLC22A18	5002	broad.mit.edu	37	11	2939241	2939241	+	Missense_Mutation	SNP	G	G	A	rs368091563		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:2939241G>A	ENST00000380574.1	+	7	1110	c.679G>A	c.(679-681)Gac>Aac	p.D227N	SLC22A18_ENST00000312221.5_Missense_Mutation_p.D227N|SLC22A18_ENST00000347936.2_Missense_Mutation_p.D227N|SLC22A18_ENST00000449793.2_Missense_Mutation_p.D129N|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	227				D -> E (in Ref. 4; AAB82727 and 6; AAC23505). {ECO:0000305}.	drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTGTGTTCGACCTGAAGGC	0.672																																						uc001lwx.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(679-681)Gac>Aac		Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.		G	ASN/ASP,ASN/ASP	0,4404		0,0,2202	57.0	53.0	54.0		679,679	3.0	1.0	11		54	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SLC22A18	NM_002555.5,NM_183233.2	23,23	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	227/425,227/425	2939241	1,13001	2202	4299	6501	SO:0001583	missense	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2939241G>A	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.679G>A	11.37:g.2939241G>A	ENSP00000369948:p.Asp227Asn					SLC22A18_uc001lwy.3_Missense_Mutation_p.D227N	p.D227N	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	6	897	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	227	D -> E (in Ref. 4; AAB82727 and 6; AAC23505).				O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	c.679G>A	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	G	3.116	-0.181686	0.06340	0.0	1.16E-4	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;T;T	0.80566	0.37;0.37;-1.39;0.37	3.98	3.04	0.35103	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.136641	0.47093	D	0.000249	T	0.59418	0.2192	L	0.28192	0.835	0.28623	N	0.908086	B;B	0.32620	0.378;0.308	B;B	0.22753	0.015;0.041	T	0.47923	-0.9079	10	0.13853	T	0.58	-16.4706	5.6358	0.17536	0.2265:0.0:0.7735:0.0	.	129;227	E9PRM7;Q96BI1	.;S22AI_HUMAN	N	227;227;129;227	ENSP00000307859:D227N;ENSP00000311139:D227N;ENSP00000392072:D129N;ENSP00000369948:D227N	ENSP00000311139:D227N	D	+	1	0	SLC22A18	2895817	0.957000	0.32711	0.989000	0.46669	0.078000	0.17371	1.805000	0.38883	1.924000	0.55735	0.484000	0.47621	GAC		0.672	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233	
OR4C13	283092	broad.mit.edu	37	11	49974296	49974296	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:49974296G>T	ENST00000555099.1	+	1	354	c.322G>T	c.(322-324)Gtt>Ttt	p.V108F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTCAGAGGTGTTGAGGTCAT	0.423																																						uc010rhz.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(322-324)Gtt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.							113.0	110.0	111.0					11																	49974296		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974296G>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.322G>T	11.37:g.49974296G>T	ENSP00000452277:p.Val108Phe						p.V108F	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			0	354	+			108					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.322G>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	4.187	0.033258	0.08101	.	.	ENSG00000258817	ENST00000555099	T	0.01397	4.94	2.95	0.968	0.19680	GPCR, rhodopsin-like superfamily (1);	0.641843	0.13684	N	0.369963	T	0.02267	0.0070	M	0.64170	1.965	0.09310	N	1	B	0.33212	0.402	B	0.40864	0.342	T	0.42015	-0.9476	9	.	.	.	.	2.5718	0.04797	0.265:0.0:0.502:0.233	.	108	Q8NGP0	OR4CD_HUMAN	F	108	ENSP00000452277:V108F	.	V	+	1	0	OR4C13	49930872	0.000000	0.05858	0.096000	0.21009	0.082000	0.17680	-0.406000	0.07187	0.110000	0.17919	0.195000	0.17529	GTT		0.423	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR5L1	219437	broad.mit.edu	37	11	55579768	55579768	+	Missense_Mutation	SNP	G	G	A	rs541042751	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:55579768G>A	ENST00000333973.2	+	1	915	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGTGGCCACCGTGTTCTACAC	0.458													N|||	21	0.00419329	0.0	0.0	5008	,	,		15910	0.0		0.0	False		,,,				2504	0.0215					uc001nhw.1																			0		p.T275N(2)|p.V276V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(826-828)Gtg>Atg		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.							78.0	71.0	74.0					11																	55579768		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579768G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.826G>A	11.37:g.55579768G>A	ENSP00000335529:p.Val276Met						p.V276M	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			0	826	+		all_epithelial(135;0.208)	276					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.826G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	12.03	1.815520	0.32145	.	.	ENSG00000186117	ENST00000333973	T	0.00274	8.35	4.12	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.160216	0.30676	N	0.009113	T	0.00552	0.0018	M	0.71296	2.17	0.24399	N	0.994714	D	0.89917	1.0	D	0.79784	0.993	T	0.39881	-0.9592	10	0.72032	D	0.01	-40.0454	11.435	0.50062	0.0:0.3523:0.6477:0.0	.	276	Q8NGL2	OR5L1_HUMAN	M	276	ENSP00000335529:V276M	ENSP00000335529:V276M	V	+	1	0	OR5L1	55336344	0.538000	0.26394	0.314000	0.25224	0.364000	0.29643	0.790000	0.26900	0.702000	0.31825	0.428000	0.28381	GTG		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
OR5M9	390162	broad.mit.edu	37	11	56230082	56230082	+	Missense_Mutation	SNP	C	C	T	rs148447943	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:56230082C>T	ENST00000279791.1	-	1	795	c.796G>A	c.(796-798)Gta>Ata	p.V266I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCTGCTCTACGGATTCCTCA	0.468																																						uc010rjj.2																			0		p.S265F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(796-798)Gta>Ata		Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.		C	ILE/VAL	0,4402		0,0,2201	83.0	72.0	75.0		796	-0.7	0.1	11	dbSNP_134	75	3,8589	3.0+/-9.4	0,3,4293	yes	missense	OR5M9	NM_001004743.1	29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	266/311	56230082	3,12991	2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230082C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.796G>A	11.37:g.56230082C>T	ENSP00000279791:p.Val266Ile					OR8U8_uc001nit.2_Intron	p.V266I	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			0	796	-	Esophageal squamous(21;0.00448)		266					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.796G>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	2.116	-0.402686	0.04865	0.0	3.49E-4	ENSG00000150269	ENST00000279791	T	0.00115	8.71	4.39	-0.712	0.11226	GPCR, rhodopsin-like superfamily (1);	0.186675	0.25842	N	0.027949	T	0.00109	0.0003	L	0.50333	1.59	0.09310	N	1	P	0.34522	0.455	B	0.34138	0.176	T	0.36768	-0.9734	10	0.59425	D	0.04	-12.5575	4.492	0.11819	0.1119:0.5683:0.1478:0.1721	.	266	Q8NGP3	OR5M9_HUMAN	I	266	ENSP00000279791:V266I	ENSP00000279791:V266I	V	-	1	0	OR5M9	55986658	0.011000	0.17503	0.052000	0.19188	0.010000	0.07245	0.129000	0.15830	-0.144000	0.11314	-1.228000	0.01579	GTA		0.468	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743	
MRPL49	740	broad.mit.edu	37	11	64888248	64888250	+	5'Flank	DEL	TCT	TCT	-	rs1065065		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:64888248_64888250delTCT	ENST00000279242.2	+	0	0				FAU_ENST00000531743.1_In_Frame_Del_p.K102del|FAU_ENST00000529639.1_In_Frame_Del_p.K102del|FAU_ENST00000279259.3_In_Frame_Del_p.E83del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000527548.1_In_Frame_Del_p.K102del|MRPL49_ENST00000526171.1_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCCCGACCTGTCTTCTTCTTCTT	0.542																																						uc001ocx.3																			0		p.K101K(1)		NS(3)|kidney(1)|large_intestine(2)	6						c.(304-309)aagaca>aca		Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.																																				SO:0001631	upstream_gene_variant	2197							g.chr11:64888248_64888250delTCT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888257_64888259delTCT	Exception_encountered					MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	p.K102del	NM_001997	NP_001988	P35544	UBIM_HUMAN			4	424_426	-			0					B2R4G6	In_Frame_Del	DEL	ENST00000279242.2	37	c.305_307delAGA	CCDS8096.1																																																																																				0.542	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927	
CTTN	2017	broad.mit.edu	37	11	70266538	70266538	+	Missense_Mutation	SNP	G	G	A	rs567039880		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:70266538G>A	ENST00000301843.8	+	10	918	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	CTTN_ENST00000538675.1_5'Flank|CTTN_ENST00000346329.3_Missense_Mutation_p.V238M|CTTN_ENST00000376561.3_Missense_Mutation_p.V238M	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	238					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAAATTTGGTGTGCAGACAGA	0.458																																						uc001opv.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(712-714)Gtg>Atg		Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.							183.0	166.0	172.0					11																	70266538		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70266538G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.712G>A	11.37:g.70266538G>A	ENSP00000301843:p.Val238Met					CTTN_uc001opu.3_Missense_Mutation_p.V238M|CTTN_uc001opw.4_Missense_Mutation_p.V238M|CTTN_uc010rqm.2_5'UTR|CTTN_uc001opx.3_5'Flank	p.V238M	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	9	918	+			238					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.712G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962996	0.74016	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	T;T;T	0.48201	0.94;1.01;0.82	5.13	3.24	0.37175	.	0.000000	0.64402	D	0.000002	T	0.71022	0.3291	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.73496	-0.3964	10	0.72032	D	0.01	-38.6116	10.1073	0.42541	0.0715:0.0:0.7918:0.1367	.	238;238;238	Q96H99;Q14247;Q8N707	.;SRC8_HUMAN;.	M	238	ENSP00000317189:V238M;ENSP00000301843:V238M;ENSP00000365745:V238M	ENSP00000301843:V238M	V	+	1	0	CTTN	69944186	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	7.227000	0.78070	0.542000	0.28846	-0.150000	0.13652	GTG		0.458	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	
APLP2	334	broad.mit.edu	37	11	129992408	129992408	+	Splice_Site	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:129992408G>A	ENST00000263574.5	+	6	994	c.922G>A	c.(922-924)Gct>Act	p.A308T	APLP2_ENST00000543137.1_Splice_Site_p.A215T|APLP2_ENST00000338167.5_Splice_Site_p.A308T|APLP2_ENST00000539648.1_Splice_Site_p.V152I|APLP2_ENST00000278756.7_Splice_Site_p.A318T|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000528499.1_Splice_Site_p.V308I	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	308	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATGTCAAAGGTAACCCCAT	0.443																																						uc010sby.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e6+1		Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.							86.0	77.0	80.0					11																	129992408		2201	4297	6498	SO:0001630	splice_region_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129992408G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.922+1G>A	11.37:g.129992408G>A						APLP2_uc001qfp.3_Splice_Site_p.A308_splice|APLP2_uc001qfq.3_Splice_Site_p.V308_splice|APLP2_uc010sbz.2_Splice_Site_p.V152_splice|APLP2_uc001qfr.3_Splice_Site_p.V130_splice|APLP2_uc001qfs.3_Intron|APLP2_uc021qsg.1_Splice_Site_p.A318_splice|APLP2_uc001qfv.3_Splice_Site_p.V255_splice	p.A308_splice	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	6	1079	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	308			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.922_splice	CCDS8486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.85|11.85	1.761927|1.761927	0.31228|0.31228	.|.	.|.	ENSG00000084234|ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137|ENST00000528499;ENST00000539648	T;T;T;T|T;T	0.57907|0.45276	0.37;0.37;0.37;0.37|0.9;0.9	5.47|5.47	5.47|5.47	0.80525|0.80525	Proteinase inhibitor I2, Kunitz metazoa (4);|.	0.489617|.	0.22320|.	N|.	0.061608|.	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.45581|0.45581	1.43|1.43	0.19945|0.19945	N|N	0.999947|0.999947	B;B|B;B	0.15473|0.02656	0.008;0.013|0.0;0.0	B;B|B;B	0.09377|0.04013	0.002;0.004|0.001;0.001	T|T	0.11036|0.11036	-1.0604|-1.0604	10|9	0.49607|0.37606	T|T	0.09|0.19	-9.8045|-9.8045	7.4189|7.4189	0.27061|0.27061	0.0838:0.0:0.7374:0.1788|0.0838:0.0:0.7374:0.1788	.|.	308;308|152;302	Q06481;Q06481-3|F5H845;B4E3I5	APLP2_HUMAN;.|.;.	T|I	308;308;318;215|308;152	ENSP00000263574:A308T;ENSP00000345444:A308T;ENSP00000278756:A318T;ENSP00000444122:A215T|ENSP00000435914:V308I;ENSP00000443728:V152I	ENSP00000263574:A308T|ENSP00000435914:V308I	A|V	+|+	1|1	0|0	APLP2|APLP2	129497618|129497618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.188000|0.188000	0.23474|0.23474	3.717000|3.717000	0.54911|0.54911	2.562000|2.562000	0.86427|0.86427	0.561000|0.561000	0.74099|0.74099	GCT|GTT		0.443	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	Missense_Mutation
KRT79	338785	broad.mit.edu	37	12	53217702	53217702	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:53217702A>G	ENST00000330553.5	-	6	1149	c.1115T>C	c.(1114-1116)cTg>cCg	p.L372P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	372	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCCCTGCAGCCTCTGGAT	0.617																																						uc001sbb.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1114-1116)cTg>cCg		Homo sapiens keratin 79 (KRT79), mRNA.							67.0	56.0	60.0					12																	53217702		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53217702A>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1115T>C	12.37:g.53217702A>G	ENSP00000328358:p.Leu372Pro					KRT79_uc001sba.3_Missense_Mutation_p.L143P	p.L372P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			5	1148	-			372			Coil 2.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1115T>C	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019265	0.75275	.	.	ENSG00000185640	ENST00000330553	D	0.82619	-1.63	4.03	4.03	0.46877	Filament (1);	0.000000	0.34725	N	0.003728	D	0.92665	0.7669	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94221	0.7467	10	0.87932	D	0	.	13.1208	0.59325	1.0:0.0:0.0:0.0	.	372	Q5XKE5	K2C79_HUMAN	P	372	ENSP00000328358:L372P	ENSP00000328358:L372P	L	-	2	0	KRT79	51503969	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.383000	0.90157	2.048000	0.60808	0.448000	0.29417	CTG		0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	
PTPRB	5787	broad.mit.edu	37	12	70974843	70974843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:70974843G>A	ENST00000261266.5	-	8	1926	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R543*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R850*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.R851*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R851*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R543*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R633*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	633	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R633R(1)|p.R851R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCACTTGTCGGGAAGAGATC	0.468																																						uc001swb.4																			2	Substitution - coding silent(2)	p.R633R(2)|p.R851R(1)	central_nervous_system(2)	breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(1897-1899)Cga>Tga		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							96.0	96.0	96.0					12																	70974843		1931	4144	6075	SO:0001587	stop_gained	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974843G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1897C>T	12.37:g.70974843G>A	ENSP00000261266:p.Arg633*					PTPRB_uc010sto.2_Nonsense_Mutation_p.R633*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R543*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R850*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R730*	p.R633*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1927	-	Renal(347;0.236)		633			Fibronectin type-III 7.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.1897C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	40	7.998249	0.98602	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.	.	.	5.86	5.86	0.93980	.	0.179172	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	13.141	0.59434	0.0:0.0:0.7363:0.2637	.	.	.	.	X	851;543;851;851;633;543;633;850;730	.	ENSP00000261266:R633X	R	-	1	2	PTPRB	69261110	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.115000	0.57865	2.781000	0.95711	0.650000	0.86243	CGA		0.468	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
ANO4	121601	broad.mit.edu	37	12	101493475	101493475	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:101493475T>C	ENST00000392977.3	+	22	2336	c.2126T>C	c.(2125-2127)cTc>cCc	p.L709P	ANO4_ENST00000550015.1_Missense_Mutation_p.L229P|ANO4_ENST00000392979.3_Missense_Mutation_p.L674P|ANO4_ENST00000299222.9_Missense_Mutation_p.L229P			Q32M45	ANO4_HUMAN	anoctamin 4	709					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCTATGGACTCTTCGATGAA	0.333										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2125-2127)cTc>cCc		Homo sapiens anoctamin 4 (ANO4), mRNA.							81.0	80.0	81.0					12																	101493475		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101493475T>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2126T>C	12.37:g.101493475T>C	ENSP00000376703:p.Leu709Pro	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.L674P|ANO4_uc001thx.2_Missense_Mutation_p.L709P|ANO4_uc001thy.2_Missense_Mutation_p.L229P	p.L709P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			21	2698	+			709					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2126T>C		.	.	.	.	.	.	.	.	.	.	T	22.8	4.334896	0.81801	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	D	0.83289	0.5222	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85912	0.1441	10	0.87932	D	0	.	16.1357	0.81487	0.0:0.0:0.0:1.0	.	229;709;674	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	P	674;229;709;229	ENSP00000376705:L674P;ENSP00000299222:L229P;ENSP00000376703:L709P;ENSP00000450192:L229P	ENSP00000299222:L229P	L	+	2	0	ANO4	100017606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.588000	0.82629	2.212000	0.71576	0.528000	0.53228	CTC		0.333	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
RNF17	56163	broad.mit.edu	37	13	25373533	25373533	+	Splice_Site	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:25373533G>A	ENST00000255324.5	+	12	1452	c.1400G>A	c.(1399-1401)gGt>gAt	p.G467D	RNF17_ENST00000381921.1_Splice_Site_p.G467D|RNF17_ENST00000255325.6_Splice_Site_p.G467D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	467			G -> S (in dbSNP:rs9581180).		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CATTATTTAGGTGCAAGAATA	0.328																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.e12-1		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							107.0	113.0	111.0					13																	25373533		2203	4297	6500	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25373533G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1400-1G>A	13.37:g.25373533G>A						RNF17_uc010tdd.1_Splice_Site_p.G326_splice|RNF17_uc010tde.2_Splice_Site_p.G467_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G406_splice	p.G467_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	12	1441	+		Lung SC(185;0.0225)|Breast(139;0.077)	467		G -> S (in dbSNP:rs9581180).			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1400_splice	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223053	0.79464	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.18810	2.19;2.19;2.19	5.41	5.41	0.78517	Maternal tudor protein (1);	0.000000	0.64402	D	0.000007	T	0.36635	0.0974	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01456	-1.1350	9	.	.	.	.	18.1303	0.89599	0.0:0.0:1.0:0.0	.	467;467	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	D	467;467;326;468	ENSP00000255324:G467D;ENSP00000371346:G467D;ENSP00000255325:G468D	.	G	+	2	0	RNF17	24271533	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.477000	0.73591	2.812000	0.96745	0.557000	0.71058	GGT		0.328	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Missense_Mutation
BRCA2	675	broad.mit.edu	37	13	32913746	32913746	+	Missense_Mutation	SNP	C	C	A	rs80358749		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:32913746C>A	ENST00000380152.3	+	11	5487	c.5254C>A	c.(5254-5256)Cat>Aat	p.H1752N	BRCA2_ENST00000544455.1_Missense_Mutation_p.H1752N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1752	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTATTCCTACCATTCTGATGA	0.308			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD044123	BRCA2	D	rs80358749	c.(5254-5256)Cat>Aat	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							51.0	55.0	54.0					13																	32913746		2202	4292	6494	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913746C>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5254C>A	13.37:g.32913746C>A	ENSP00000369497:p.His1752Asn	TCGA Ovarian(8;0.087)					p.H1752N	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	5481	+		Lung SC(185;0.0262)	1752					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5254C>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	4.205	0.036705	0.08148	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00848	5.62;5.62	5.3	2.34	0.29019	.	1.536270	0.03583	N	0.230510	T	0.01835	0.0058	M	0.69823	2.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53151	-0.8479	10	0.28530	T	0.3	.	6.5703	0.22535	0.4205:0.495:0.0:0.0845	.	1752	P51587	BRCA2_HUMAN	N	1752	ENSP00000369497:H1752N;ENSP00000439902:H1752N	ENSP00000369497:H1752N	H	+	1	0	BRCA2	31811746	0.001000	0.12720	0.001000	0.08648	0.167000	0.22549	0.776000	0.26704	0.678000	0.31325	0.655000	0.94253	CAT		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
TNFSF11	8600	broad.mit.edu	37	13	43175077	43175077	+	Silent	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:43175077T>A	ENST00000239849.6	+	4	643	c.492T>A	c.(490-492)ccT>ccA	p.P164P	TNFSF11_ENST00000544862.1_Silent_p.P91P|TNFSF11_ENST00000405262.2_Silent_p.P91P|TNFSF11_ENST00000398795.2_Silent_p.P91P|TNFSF11_ENST00000358545.2_Silent_p.P91P			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	164					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	AAGCTCAGCCTTTTGCTCATC	0.428																																						uc001uyu.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(490-492)ccT>ccA		Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.							143.0	139.0	141.0					13																	43175077		2203	4300	6503	SO:0001819	synonymous_variant	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43175077T>A	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.492T>A	13.37:g.43175077T>A						TNFSF11_uc001uyt.2_Silent_p.P91P	p.P164P	NM_003701	NP_143026	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	3	641	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	164					O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	c.492T>A	CCDS9384.1																																																																																				0.428	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2		
OR4M1	441670	broad.mit.edu	37	14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:20249338C>T	ENST00000315957.4	+	1	938	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTTAATCCCATTATTTAC	0.363																																						uc010tku.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(856-858)cCc>cTc		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.							103.0	103.0	103.0					14																	20249338		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249338C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.857C>T	14.37:g.20249338C>T	ENSP00000319654:p.Pro286Leu						p.P286L	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	857	+	all_cancers(95;0.00108)		286					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.857C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	16.52	3.146730	0.57151	.	.	ENSG00000176299	ENST00000315957	T	0.63417	-0.04	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	D	0.83101	0.5181	M	0.92077	3.27	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87377	0.2354	10	0.87932	D	0	-17.4385	14.9222	0.70847	0.0:1.0:0.0:0.0	.	286	Q8NGD0	OR4M1_HUMAN	L	286	ENSP00000319654:P286L	ENSP00000319654:P286L	P	+	2	0	OR4M1	19319178	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.025000	0.76449	2.468000	0.83385	0.506000	0.49869	CCC		0.363	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1		
CHD8	57680	broad.mit.edu	37	14	21897227	21897227	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:21897227G>C	ENST00000557364.1	-	3	1374	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	CHD8_ENST00000399982.2_Missense_Mutation_p.Q371E|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.Q92E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	371	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCACTGGCTGGGTGGAGGGT	0.547																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1111-1113)Cag>Gag		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							129.0	144.0	139.0					14																	21897227		2127	4262	6389	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897227G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1111C>G	14.37:g.21897227G>C	ENSP00000451601:p.Gln371Glu					CHD8_uc001was.2_Missense_Mutation_p.Q92E	p.Q371E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	1	1176	-	all_cancers(95;0.00121)		371			Gln-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1111C>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997425	0.35226	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88586	-2.38;-2.4;-2.4	5.44	5.44	0.79542	.	0.200976	0.44483	D	0.000452	T	0.79423	0.4443	N	0.19112	0.55	0.26331	N	0.977514	B	0.15473	0.013	B	0.12156	0.007	T	0.56062	-0.8041	10	0.02654	T	1	-13.7016	16.2954	0.82768	0.0:0.0:1.0:0.0	.	92	Q9HCK8-2	.	E	92;371;91;371	ENSP00000406288:Q92E;ENSP00000382863:Q371E;ENSP00000451601:Q371E	ENSP00000262707:Q91E	Q	-	1	0	CHD8	20967067	1.000000	0.71417	0.971000	0.41717	0.768000	0.43524	3.670000	0.54569	2.828000	0.97474	0.655000	0.94253	CAG		0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
SLC35F4	341880	broad.mit.edu	37	14	58063582	58063582	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:58063582G>C	ENST00000339762.6	-	1	33	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	12					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACTGGTCAGTTTGTGGAAG	0.428																																						uc021rtp.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24								Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.							55.0	55.0	55.0					14																	58063582		2009	4177	6186	SO:0001583	missense	341880							g.chr14:58063582G>C			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.34C>G	14.37:g.58063582G>C	ENSP00000342518:p.Leu12Val					SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR		NM_001206920	NP_001193849							-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37			.	.	.	.	.	.	.	.	.	.	G	4.698	0.129785	0.08981	.	.	ENSG00000151812	ENST00000339762	T	0.45276	0.9	4.13	0.805	0.18703	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	8	0.32370	T	0.25	.	4.0401	0.09748	0.2072:0.5244:0.2684:0.0	.	12	A4IF30	S35F4_HUMAN	V	12	ENSP00000342518:L12V	ENSP00000342518:L12V	L	-	1	2	SLC35F4	57133335	0.227000	0.23707	0.007000	0.13788	0.028000	0.11728	0.875000	0.28079	0.153000	0.19213	-0.182000	0.12963	CTG		0.428	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	
ATG2B	55102	broad.mit.edu	37	14	96779478	96779478	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:96779478T>C	ENST00000359933.4	-	25	4659	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1256					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAGATCGGATTGGCAAATAA	0.378																																						uc001yfi.3																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3766-3768)Atc>Gtc		Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.							103.0	101.0	102.0					14																	96779478		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96779478T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3766A>G	14.37:g.96779478T>C	ENSP00000353010:p.Ile1256Val						p.I1256V	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	24	4131	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1256					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3766A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	2.423	-0.332698	0.05314	.	.	ENSG00000066739	ENST00000359933	T	0.09163	3.01	6.01	3.64	0.41730	.	0.628281	0.17830	N	0.160562	T	0.03348	0.0097	N	0.02315	-0.6	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.45131	-0.9282	10	0.06891	T	0.86	.	6.7135	0.23290	0.0:0.1438:0.13:0.7262	.	1256	Q96BY7	ATG2B_HUMAN	V	1256	ENSP00000353010:I1256V	ENSP00000353010:I1256V	I	-	1	0	ATG2B	95849231	0.053000	0.20554	0.775000	0.31657	0.993000	0.82548	0.200000	0.17257	0.503000	0.28060	0.533000	0.62120	ATC		0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
FAM81A	145773	broad.mit.edu	37	15	59752269	59752269	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:59752269G>A	ENST00000288228.5	+	3	345	c.158G>A	c.(157-159)cGg>cAg	p.R53Q		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	53										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CACGCCTTTCGGATTAAAGAT	0.502																																						uc002agc.2																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(157-159)cGg>cAg		Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.							67.0	68.0	67.0					15																	59752269		1921	4122	6043	SO:0001583	missense	145773							g.chr15:59752269G>A		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.158G>A	15.37:g.59752269G>A	ENSP00000288228:p.Arg53Gln					FAM81A_uc010uha.2_Missense_Mutation_p.R53Q	p.R53Q	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			2	345	+			53						Missense_Mutation	SNP	ENST00000288228.5	37	c.158G>A	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963580	0.74016	.	.	ENSG00000157470	ENST00000288228	T	0.28895	1.59	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000004	T	0.55321	0.1913	M	0.69358	2.11	0.43965	D	0.996646	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.986	T	0.56456	-0.7976	10	0.72032	D	0.01	-23.1858	16.6985	0.85342	0.0:0.0:1.0:0.0	.	50;53	B4DRE4;Q8TBF8	.;FA81A_HUMAN	Q	53	ENSP00000288228:R53Q	ENSP00000288228:R53Q	R	+	2	0	FAM81A	57539561	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	3.974000	0.56852	2.619000	0.88677	0.561000	0.74099	CGG		0.502	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450	
MAN2A2	4122	broad.mit.edu	37	15	91452684	91452684	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:91452684T>C	ENST00000559717.1	+	9	1783	c.1324T>C	c.(1324-1326)Tac>Cac	p.Y442H	MAN2A2_ENST00000431652.2_Silent_p.T17T|MAN2A2_ENST00000360468.3_Missense_Mutation_p.Y442H|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	442					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCTTCAACTACCAACGGCT	0.567																																						uc010bnz.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1324-1326)Tac>Cac		Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.							106.0	92.0	97.0					15																	91452684		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91452684T>C	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1324T>C	15.37:g.91452684T>C	ENSP00000452948:p.Tyr442His					MAN2A2_uc010boa.3_Missense_Mutation_p.Y484H|MAN2A2_uc002bqc.3_Missense_Mutation_p.Y442H|MAN2A2_uc010uql.2_Missense_Mutation_p.Y146H|MAN2A2_uc010uqm.2_Silent_p.T88T|MAN2A2_uc010uqn.1_5'Flank	p.Y442H	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		8	1439	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		442					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1324T>C	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843145	0.91197	.	.	ENSG00000196547	ENST00000360468	T	0.24350	1.86	5.74	5.74	0.90152	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.117701	0.64402	D	0.000011	T	0.63462	0.2513	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.74970	-0.3482	10	0.87932	D	0	-19.6825	15.7549	0.78015	0.0:0.0:0.0:1.0	.	112;442;442	B4DIK4;P49641-1;P49641	.;.;MA2A2_HUMAN	H	442	ENSP00000353655:Y442H	ENSP00000353655:Y442H	Y	+	1	0	MAN2A2	89253688	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.698000	0.84413	2.211000	0.71520	0.454000	0.30748	TAC		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
SPATA8	145946	broad.mit.edu	37	15	97326893	97326893	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:97326893C>T	ENST00000328504.3	+	1	275	c.8C>T	c.(7-9)cCg>cTg	p.P3L	SPATA8_ENST00000558553.1_Intron|SPATA8-AS1_ENST00000558722.1_RNA|SPATA8-AS1_ENST00000560888.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	3										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGAATGGCCCCGGCTGGGATG	0.567																																						uc002bue.3																			0				large_intestine(4)|lung(8)|ovary(1)|skin(3)	16						c.(7-9)cCg>cTg		Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.							72.0	72.0	72.0					15																	97326893		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97326893C>T	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.8C>T	15.37:g.97326893C>T	ENSP00000328149:p.Pro3Leu					DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	p.P3L	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		0	215	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		3					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.8C>T	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	c	2.880	-0.232040	0.05983	.	.	ENSG00000185594	ENST00000328504	.	.	.	2.64	-5.29	0.02747	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30504	-0.9976	8	0.02654	T	1	.	2.9325	0.05804	0.3142:0.2289:0.0:0.4569	.	3	Q6RVD6	SPAT8_HUMAN	L	3	.	ENSP00000328149:P3L	P	+	2	0	SPATA8	95127897	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.357000	0.07651	-1.279000	0.02405	-2.390000	0.00227	CCG		0.567	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499	
PDILT	204474	broad.mit.edu	37	16	20373885	20373885	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:20373885C>G	ENST00000302451.4	-	10	1505	c.1257G>C	c.(1255-1257)aaG>aaC	p.K419N		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	419	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCATCTTGCACTTTTTAGACC	0.473																																						uc002dhc.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1255-1257)aaG>aaC		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.							192.0	145.0	161.0					16																	20373885		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20373885C>G		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1257G>C	16.37:g.20373885C>G	ENSP00000305465:p.Lys419Asn						p.K419N	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			9	1480	-			419			Thioredoxin.		Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1257G>C	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966761	0.18659	.	.	ENSG00000169340	ENST00000302451	T	0.03358	3.96	5.0	0.705	0.18127	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.215312	0.46442	D	0.000284	T	0.04137	0.0115	L	0.48642	1.525	0.29934	N	0.821675	B	0.23249	0.082	B	0.24701	0.055	T	0.13335	-1.0513	10	0.87932	D	0	.	7.8805	0.29618	0.0:0.5641:0.0:0.4359	.	419	Q8N807	PDILT_HUMAN	N	419	ENSP00000305465:K419N	ENSP00000305465:K419N	K	-	3	2	PDILT	20281386	0.064000	0.20934	0.398000	0.26321	0.444000	0.32077	-1.156000	0.03160	0.285000	0.22329	0.563000	0.77884	AAG		0.473	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ERN2	10595	broad.mit.edu	37	16	23712369	23712369	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:23712369A>G	ENST00000256797.4	-	12	1582	c.1414T>C	c.(1414-1416)Tct>Cct	p.S472P	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3			endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAAGTAAGAGTCTGGAGTT	0.562																																						uc002dma.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1414-1416)Tct>Cct		Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.							84.0	83.0	83.0					16																	23712369		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23712369A>G	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000256797.4:c.1414T>C	16.37:g.23712369A>G	ENSP00000256797:p.Ser472Pro					ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.S280P	p.S472P	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1583	-			424	FAH -> TAD (in Ref. 1; BAB21297).					Missense_Mutation	SNP	ENST00000256797.4	37	c.1414T>C	CCDS32407.1	.	.	.	.	.	.	.	.	.	.	A	8.097	0.775771	0.16051	.	.	ENSG00000134398	ENST00000256797	T	0.60672	0.17	5.09	-7.36	0.01417	.	0.978445	0.08391	N	0.952869	T	0.30417	0.0764	N	0.14661	0.345	0.09310	N	1	B;B	0.31730	0.182;0.337	B;B	0.30179	0.112;0.063	T	0.20107	-1.0285	10	0.27785	T	0.31	.	6.6715	0.23070	0.3094:0.0:0.4681:0.2225	.	424;424	Q76MJ5;A5YM65	ERN2_HUMAN;.	P	472	ENSP00000256797:S472P	ENSP00000256797:S472P	S	-	1	0	ERN2	23619870	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.424000	0.07025	-1.480000	0.01865	0.459000	0.35465	TCT		0.562	ERN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434887.1		
PRKCB	5579	broad.mit.edu	37	16	24202548	24202548	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:24202548A>G	ENST00000321728.7	+	16	2035	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	PRKCB_ENST00000303531.7_Silent_p.K620K	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	620	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ATAAGCCAAAAGCTGTAAGTA	0.473																																						uc002dmd.3																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1858-1860)aaA>aaG		Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	Vitamin E(DB00163)						105.0	110.0	108.0					16																	24202548		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202548A>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1860A>G	16.37:g.24202548A>G						PRKCB_uc002dme.3_Silent_p.K620K	p.K620K	NM_212535	NP_997700	P05771	KPCB_HUMAN			15	2057	+			620			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1860A>G	CCDS10618.1																																																																																				0.473	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
LPCAT2	54947	broad.mit.edu	37	16	55543215	55543215	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:55543215C>T	ENST00000262134.5	+	1	306	c.122C>T	c.(121-123)cCg>cTg	p.P41L		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	41					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGCCGGTGCCGAACCCCTTC	0.726																																						uc002eie.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(121-123)cCg>cTg		Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.							8.0	11.0	10.0					16																	55543215		1725	3671	5396	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55543215C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.122C>T	16.37:g.55543215C>T	ENSP00000262134:p.Pro41Leu						p.P41L	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN			0	303	+			41					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.122C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557153	0.27827	.	.	ENSG00000087253	ENST00000262134	T	0.33865	1.39	5.02	-1.26	0.09376	.	0.971212	0.08529	N	0.932355	T	0.19725	0.0474	L	0.31664	0.95	0.39839	D	0.973088	B	0.02656	0.0	B	0.04013	0.001	T	0.36768	-0.9734	10	0.07644	T	0.81	-1.6676	4.8373	0.13471	0.1344:0.372:0.4082:0.0854	.	41	Q7L5N7	PCAT2_HUMAN	L	41	ENSP00000262134:P41L	ENSP00000262134:P41L	P	+	2	0	LPCAT2	54100716	0.912000	0.30974	0.449000	0.26957	0.385000	0.30292	-0.025000	0.12413	-0.494000	0.06669	0.579000	0.79373	CCG		0.726	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839	
C16orf46	123775	broad.mit.edu	37	16	81095126	81095126	+	Silent	SNP	G	G	A	rs537023465		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:81095126G>A	ENST00000299578.5	-	4	1063	c.828C>T	c.(826-828)aaC>aaT	p.N276N	C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Silent_p.N276N	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	276						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATGGCGTGTCGTTGACCATAG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17023	0.0		0.0	False		,,,				2504	0.0					uc002fgc.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(826-828)aaC>aaT		Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.							148.0	133.0	138.0					16																	81095126		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81095126G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.828C>T	16.37:g.81095126G>A						C16orf46_uc010chf.3_Silent_p.N276N|C16orf46_uc010vno.2_Silent_p.N3N	p.N276N	NM_152337	NP_689550	Q6P387	CP046_HUMAN			3	1087	-			276					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.828C>T	CCDS10932.1																																																																																				0.552	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337	
KIAA0513	9764	broad.mit.edu	37	16	85120720	85120720	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:85120720G>A	ENST00000566428.1	+	12	1765	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	KIAA0513_ENST00000538274.1_Silent_p.K368K|KIAA0513_ENST00000258180.3_Silent_p.K378K			O60268	K0513_HUMAN	KIAA0513	378						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAACAAGAAGCTGTGCAATG	0.612											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fiu.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(1132-1134)aaG>aaA		Homo sapiens KIAA0513 (KIAA0513), mRNA.							111.0	97.0	102.0					16																	85120720		2198	4300	6498	SO:0001819	synonymous_variant	9764					cytoplasm		g.chr16:85120720G>A	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.1134G>A	16.37:g.85120720G>A			OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1234	KIAA0513_uc010voj.2_Silent_p.K368K	p.K378K	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	11	1354	+			378					B4DSS5|D3DUM2|Q8N6G0	Silent	SNP	ENST00000566428.1	37	c.1134G>A	CCDS32499.1																																																																																				0.612	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732	
SENP3	26168	broad.mit.edu	37	17	7466491	7466491	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7466491G>A	ENST00000429205.2	+	2	147	c.98G>A	c.(97-99)cGt>cAt	p.R33H	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Missense_Mutation_p.R33H|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	33	Pro-rich.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GAGCGTCTTCGTTGGCCCCCA	0.637																																						uc002ghm.3																			0				central_nervous_system(1)|ovary(1)	2						c.(97-99)cGt>cAt		Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.							13.0	15.0	14.0					17																	7466491		1960	4111	6071	SO:0001583	missense	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7466491G>A	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.98G>A	17.37:g.7466491G>A	ENSP00000403712:p.Arg33His					EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank	p.R33H	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN			1	381	+		Prostate(122;0.157)	33			Pro-rich.		Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37	c.98G>A		.	.	.	.	.	.	.	.	.	.	G	16.89	3.247322	0.59103	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.35789	1.29;1.29	4.72	4.72	0.59763	.	0.093658	0.43110	D	0.000604	T	0.33731	0.0873	N	0.08118	0	0.30876	N	0.731937	D	0.65815	0.995	P	0.58520	0.84	T	0.32877	-0.9890	10	0.54805	T	0.06	-6.0963	13.056	0.58980	0.0:0.0:1.0:0.0	.	33	Q9H4L4	SENP3_HUMAN	H	33	ENSP00000314029:R33H;ENSP00000403712:R33H	ENSP00000314029:R33H	R	+	2	0	SENP3	7407215	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.171000	0.58236	2.440000	0.82611	0.563000	0.77884	CGT		0.637	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670	
ALOX15B	247	broad.mit.edu	37	17	7948185	7948185	+	Missense_Mutation	SNP	G	G	A	rs375708086		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7948185G>A	ENST00000380183.4	+	6	854	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	ALOX15B_ENST00000573359.1_Missense_Mutation_p.A239T|ALOX15B_ENST00000572022.1_Missense_Mutation_p.A239T|ALOX15B_ENST00000380173.2_Missense_Mutation_p.A239T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	239	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGCCTTCTTCGCCTCCCAGTT	0.607																																						uc002gju.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(715-717)Gcc>Acc		Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.							109.0	75.0	87.0					17																	7948185		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7948185G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.715G>A	17.37:g.7948185G>A	ENSP00000369530:p.Ala239Thr					ALOX15B_uc002gjv.3_Missense_Mutation_p.A239T|ALOX15B_uc002gjw.3_Missense_Mutation_p.A239T|ALOX15B_uc010vun.2_Missense_Mutation_p.A239T|ALOX15B_uc010cnp.3_Missense_Mutation_p.A45T	p.A239T	NM_001141	NP_001132	O15296	LX15B_HUMAN			5	831	+			239			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.715G>A	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945542	0.92593	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.92752	-3.1;-3.1	4.26	3.27	0.37495	Lipoxygenase, C-terminal (3);	0.116479	0.56097	D	0.000030	D	0.90082	0.6902	M	0.82923	2.615	0.37533	D	0.917998	B;P;B;B	0.37158	0.432;0.585;0.378;0.432	B;B;B;B	0.29663	0.105;0.092;0.064;0.105	D	0.92399	0.5928	10	0.87932	D	0	-24.2777	10.7199	0.46034	0.0974:0.0:0.9026:0.0	.	239;239;239;239	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	T	239	ENSP00000369520:A239T;ENSP00000369530:A239T	ENSP00000344337:A239T	A	+	1	0	ALOX15B	7888910	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	7.605000	0.82844	2.092000	0.63282	0.491000	0.48974	GCC		0.607	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2		
KRT24	192666	broad.mit.edu	37	17	38859417	38859417	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:38859417C>T	ENST00000264651.2	-	1	585	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	177	Linker 1.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCATATTTGTCATACCACTCC	0.458																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(529-531)Gac>Aac		Homo sapiens keratin 24 (KRT24), mRNA.							179.0	176.0	177.0					17																	38859417		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859417C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.529G>A	17.37:g.38859417C>T	ENSP00000264651:p.Asp177Asn						p.D177N	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			0	586	-		Breast(137;0.00526)	177			Linker 1.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.529G>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480934	0.84747	.	.	ENSG00000167916	ENST00000264651	D	0.88509	-2.39	5.6	5.6	0.85130	Filament (1);	.	.	.	.	D	0.88336	0.6409	L	0.52266	1.64	0.35399	D	0.791461	B	0.32010	0.351	B	0.37780	0.258	D	0.91092	0.4907	9	0.87932	D	0	.	16.066	0.80870	0.0:0.866:0.134:0.0	.	177	Q2M2I5	K1C24_HUMAN	N	177	ENSP00000264651:D177N	ENSP00000264651:D177N	D	-	1	0	KRT24	36112943	0.988000	0.35896	0.992000	0.48379	0.876000	0.50452	1.239000	0.32719	2.800000	0.96347	0.655000	0.94253	GAC		0.458	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
ABCA6	23460	broad.mit.edu	37	17	67079124	67079124	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:67079124G>C	ENST00000284425.2	-	36	4680	c.4506C>G	c.(4504-4506)aaC>aaG	p.N1502K	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1502	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGCCAAGTTTGTTTTTCAGGT	0.378																																						uc002jhw.1																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4504-4506)aaC>aaG		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.							188.0	194.0	192.0					17																	67079124		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079124G>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4506C>G	17.37:g.67079124G>C	ENSP00000284425:p.Asn1502Lys						p.N1502K	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			35	4681	-	Breast(10;5.65e-12)		1502			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4506C>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245595	0.39697	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.95307	-3.67	5.27	0.249	0.15531	ABC transporter-like (1);	0.460663	0.19462	N	0.113662	D	0.85915	0.5808	N	0.17764	0.52	0.39068	D	0.960652	B	0.19445	0.036	B	0.22601	0.04	T	0.74973	-0.3481	10	0.72032	D	0.01	.	1.9087	0.03282	0.2286:0.1602:0.4683:0.1428	.	1502	Q8N139	ABCA6_HUMAN	K	1502;362	ENSP00000284425:N1502K	ENSP00000284425:N1502K	N	-	3	2	ABCA6	64590719	0.001000	0.12720	0.906000	0.35671	0.981000	0.71138	-0.762000	0.04745	-0.001000	0.14495	0.650000	0.86243	AAC		0.378	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ZNF236	7776	broad.mit.edu	37	18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr18:74625839G>A	ENST00000253159.8	+	18	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1016K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1014					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483																																						uc002lmi.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3040-3042)Gag>Aag		Homo sapiens zinc finger protein 236 (ZNF236), mRNA.							83.0	89.0	87.0					18																	74625839		1939	4135	6074	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625839G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3040G>A	18.37:g.74625839G>A	ENSP00000253159:p.Glu1014Lys					ZNF236_uc002lmj.3_Non-coding_Transcript	p.E1014K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	17	3238	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1014					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3040G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282019	0.40394	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.24538	1.85;1.85	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160038	0.44483	D	0.000454	T	0.23330	0.0564	N	0.05554	-0.025	0.41256	D	0.986746	D	0.67145	0.996	P	0.58331	0.837	T	0.02477	-1.1153	10	0.02654	T	1	.	18.2767	0.90085	0.0:0.0:1.0:0.0	.	1014	Q9UL36	ZN236_HUMAN	K	1014	ENSP00000253159:E1014K;ENSP00000444524:E1014K	ENSP00000253159:E1014K	E	+	1	0	ZNF236	72754827	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	4.134000	0.57990	2.317000	0.78254	0.462000	0.41574	GAG		0.483	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
PTPRS	5802	broad.mit.edu	37	19	5221104	5221104	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:5221104A>C	ENST00000587303.1	-	19	3461	c.3362T>G	c.(3361-3363)cTg>cGg	p.L1121R	PTPRS_ENST00000372412.4_Missense_Mutation_p.L1122R|PTPRS_ENST00000588012.1_Missense_Mutation_p.L1099R|PTPRS_ENST00000592099.1_Missense_Mutation_p.L690R|PTPRS_ENST00000348075.2_Missense_Mutation_p.L1099R|PTPRS_ENST00000353284.2_Missense_Mutation_p.L690R|PTPRS_ENST00000357368.4_Missense_Mutation_p.L1121R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.L1117R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1121					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCCGTTGAGCAGGTTGAAGGC	0.622																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3361-3363)cTg>cGg		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							127.0	107.0	114.0					19																	5221104		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5221104A>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3362T>G	19.37:g.5221104A>C	ENSP00000467537:p.Leu1121Arg					PTPRS_uc002mbu.1_Missense_Mutation_p.L690R|PTPRS_uc010xin.2_Missense_Mutation_p.L690R|PTPRS_uc002mbw.3_Missense_Mutation_p.L1099R|PTPRS_uc002mbx.3_Missense_Mutation_p.L694R|PTPRS_uc002mby.3_Missense_Mutation_p.L690R	p.L1121R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	19	3596	-			1121					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3362T>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438572	0.62955	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.55760	0.6;0.6;0.6;0.6;0.5	3.78	3.78	0.43462	.	0.372260	0.23019	U	0.052872	T	0.60392	0.2265	L	0.46157	1.445	0.37595	D	0.92034	B;B;P;P;B;P	0.47677	0.339;0.367;0.534;0.899;0.384;0.608	B;B;P;P;B;B	0.57101	0.361;0.252;0.715;0.813;0.183;0.319	T	0.68447	-0.5406	10	0.87932	D	0	.	12.7108	0.57088	1.0:0.0:0.0:0.0	.	703;690;694;1099;1121;716	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	716;1122;1121;1121;1112;1117;1099;703;694;690	ENSP00000361489:L1122R;ENSP00000349932:L1121R;ENSP00000262963:L1117R;ENSP00000269907:L1099R;ENSP00000327313:L690R	ENSP00000262963:L1117R	L	-	2	0	PTPRS	5172104	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.098000	0.76974	1.594000	0.50039	0.459000	0.35465	CTG		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
CAMSAP3	57662	broad.mit.edu	37	19	7676675	7676675	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:7676675G>A	ENST00000160298.4	+	11	1397	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	CAMSAP3_ENST00000446248.2_Silent_p.S459S	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	432					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGTGAGCTCGGACAGCCTGG	0.687																																						uc002mgu.4																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1375-1377)tcG>tcA		Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.							13.0	16.0	15.0					19																	7676675		1972	4138	6110	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676675G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1296G>A	19.37:g.7676675G>A						CAMSAP3_uc002mgv.4_Silent_p.S432S|CAMSAP3_uc002mgw.3_5'Flank	p.S459S	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN			12	1478	+			432			Pro-rich.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.1377G>A	CCDS42489.1																																																																																				0.687	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362	
ZNF99	7652	broad.mit.edu	37	19	22940690	22940690	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:22940690T>C	ENST00000596209.1	-	4	2111	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G	ZNF99_ENST00000397104.3_Missense_Mutation_p.E583G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTAGGGTTTCTCTTCAGTATG	0.358																																						uc021urt.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2020-2022)gAg>gGg		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.							48.0	51.0	50.0					19																	22940690		2133	4256	6389	SO:0001583	missense	7652							g.chr19:22940690T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2021A>G	19.37:g.22940690T>C	ENSP00000472969:p.Glu674Gly						p.E674G	NM_001080409	NP_001073878					3	2176	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2021A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	11.27	1.590579	0.28357	.	.	ENSG00000213973	ENST00000397104	T	0.27557	1.66	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41305	0.1153	L	0.47716	1.5	0.39200	D	0.963129	D	0.71674	0.998	D	0.67900	0.954	T	0.36335	-0.9752	9	0.72032	D	0.01	.	7.5016	0.27522	0.0:0.0:0.0:1.0	.	583	A8MXY4	ZNF99_HUMAN	G	583	ENSP00000380293:E583G	ENSP00000380293:E583G	E	-	2	0	ZNF99	22732530	0.063000	0.20901	0.082000	0.20525	0.030000	0.12068	2.264000	0.43302	0.569000	0.29329	0.329000	0.21502	GAG		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
CLASRP	11129	broad.mit.edu	37	19	45561033	45561033	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:45561033G>A	ENST00000221455.3	+	7	588	c.490G>A	c.(490-492)Ggt>Agt	p.G164S	CLASRP_ENST00000544944.2_Missense_Mutation_p.G164S|CLASRP_ENST00000391953.4_Missense_Mutation_p.G102S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	164					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGCTTCCATCGGTTATACCTA	0.617																																						uc002pak.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(490-492)Ggt>Agt		Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.							131.0	111.0	117.0					19																	45561033		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561033G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.490G>A	19.37:g.45561033G>A	ENSP00000221455:p.Gly164Ser					CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.G102S|CLASRP_uc002pam.3_Missense_Mutation_p.G164S|CLASRP_uc002pan.1_Non-coding_Transcript	p.G164S	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN			6	588	+			164					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.490G>A	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	32	5.110434	0.94292	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.7	4.7	0.59300	Splicing factor, suppressor of white apricot (1);	0.000000	0.36932	U	0.002335	T	0.56804	0.2010	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.97	T	0.62044	-0.6937	10	0.72032	D	0.01	-30.767	15.1769	0.72920	0.0:0.0:1.0:0.0	.	102;164;164	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	S	164;164;102;164	ENSP00000221455:G164S;ENSP00000375814:G164S;ENSP00000375815:G102S;ENSP00000438702:G164S	ENSP00000221455:G164S	G	+	1	0	CLASRP	50252873	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	9.208000	0.95075	2.434000	0.82447	0.563000	0.77884	GGT		0.617	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056	
ZNF347	84671	broad.mit.edu	37	19	53645135	53645135	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:53645135G>A	ENST00000334197.7	-	5	1014	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	ZNF347_ENST00000452676.2_Missense_Mutation_p.R317C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R317C	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAACGTTTTTCGCCA	0.373																																					Melanoma(64;205 1597 17324 45721)	uc002qbc.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(949-951)Cgt>Tgt		Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.							157.0	149.0	152.0					19																	53645135		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645135G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.946C>T	19.37:g.53645135G>A	ENSP00000334146:p.Arg316Cys					ZNF347_uc002qbb.2_Missense_Mutation_p.R316C|ZNF347_uc010eql.2_Missense_Mutation_p.R317C	p.R317C	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	4	1376	-			316					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.949C>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369506	0.42003	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.18960	2.18;2.18	2.85	0.478	0.16789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26195	0.0639	L	0.39566	1.225	0.09310	N	0.999995	D;D	0.69078	0.996;0.997	P;P	0.56960	0.712;0.81	T	0.11891	-1.0569	9	0.87932	D	0	.	5.8475	0.18673	0.1216:0.196:0.6824:0.0	.	317;316	G5E9N4;Q96SE7	.;ZN347_HUMAN	C	316;317	ENSP00000334146:R316C;ENSP00000405218:R317C	ENSP00000334146:R316C	R	-	1	0	ZNF347	58336947	0.028000	0.19301	0.001000	0.08648	0.005000	0.04900	0.833000	0.27504	0.077000	0.16863	0.655000	0.94253	CGT		0.373	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
LILRA4	23547	broad.mit.edu	37	19	54850352	54850352	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:54850352G>C	ENST00000291759.4	-	1	69	c.13C>G	c.(13-15)Ctc>Gtc	p.L5V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	5					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGCTTGTGAGAATGAGGGTC	0.567																																						uc002qfj.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(13-15)Ctc>Gtc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.							126.0	105.0	112.0					19																	54850352		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54850352G>C	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.13C>G	19.37:g.54850352G>C	ENSP00000291759:p.Leu5Val					LILRA4_uc002qfi.3_5'UTR	p.L5V	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	0	70	-	Ovarian(34;0.19)		5					Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.13C>G	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	8.328	0.825928	0.16749	.	.	ENSG00000239961	ENST00000291759	T	0.00512	6.89	2.34	-1.11	0.09840	.	0.545016	0.15685	N	0.249739	T	0.00440	0.0014	M	0.75150	2.29	0.09310	N	1	P	0.37864	0.61	B	0.28305	0.088	T	0.46527	-0.9185	10	0.59425	D	0.04	.	4.9804	0.14162	0.5024:0.0:0.4976:0.0	.	5	P59901	LIRA4_HUMAN	V	5	ENSP00000291759:L5V	ENSP00000291759:L5V	L	-	1	0	LILRA4	59542164	0.013000	0.17824	0.000000	0.03702	0.008000	0.06430	0.460000	0.21924	-0.173000	0.10761	0.557000	0.71058	CTC		0.567	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
EHD3	30845	broad.mit.edu	37	2	31483756	31483756	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:31483756A>G	ENST00000322054.5	+	4	1168	c.883A>G	c.(883-885)Aac>Gac	p.N295D	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	295					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCGCAAGCTCAACGACCTCAT	0.622																																						uc002rnu.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(883-885)Aac>Gac		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							58.0	62.0	61.0					2																	31483756		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483756A>G	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.883A>G	2.37:g.31483756A>G	ENSP00000327116:p.Asn295Asp					EHD3_uc010ymt.2_Intron	p.N295D	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			3	1491	+	Acute lymphoblastic leukemia(172;0.155)		295					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.883A>G	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844575	0.71488	.	.	ENSG00000013016	ENST00000322054	D	0.95412	-3.7	4.77	4.77	0.60923	.	0.084263	0.85682	D	0.000000	D	0.95680	0.8595	M	0.81239	2.535	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	D	0.95523	0.8596	10	0.87932	D	0	-28.7003	14.4699	0.67509	1.0:0.0:0.0:0.0	.	295	Q9NZN3	EHD3_HUMAN	D	295	ENSP00000327116:N295D	ENSP00000327116:N295D	N	+	1	0	EHD3	31337260	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	9.139000	0.94554	2.007000	0.58848	0.459000	0.35465	AAC		0.622	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:73316366C>T	ENST00000258098.6	-	2	749	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532																																						uc002siu.4																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(508-510)cGc>cAc		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							328.0	319.0	322.0					2																	73316366		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316366C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.509G>A	2.37:g.73316366C>T	ENSP00000258098:p.Arg170His					RAB11FIP5_uc002sit.4_Missense_Mutation_p.R92H	p.R170H	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			1	750	-			170					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.509G>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822055	0.90873	.	.	ENSG00000135631	ENST00000258098	T	0.33216	1.42	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60672	-0.7217	10	0.54805	T	0.06	-18.9627	16.5264	0.84332	0.0:1.0:0.0:0.0	.	170;170	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	H	170	ENSP00000258098:R170H	ENSP00000258098:R170H	R	-	2	0	RAB11FIP5	73169874	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.936000	0.70153	2.570000	0.86706	0.561000	0.74099	CGC		0.532	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	
NCAPH	23397	broad.mit.edu	37	2	97035182	97035182	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:97035182C>A	ENST00000240423.4	+	17	2153	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K	NCAPH_ENST00000455200.1_Missense_Mutation_p.Q693K|NCAPH_ENST00000427946.1_Missense_Mutation_p.Q568K	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	704					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGTCATGGCTCAGAACCTCTC	0.438																																						uc002svz.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2110-2112)Cag>Aag		Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.							203.0	190.0	194.0					2																	97035182		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97035182C>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2110C>A	2.37:g.97035182C>A	ENSP00000240423:p.Gln704Lys					NCAPH_uc010yum.1_Missense_Mutation_p.Q680K|NCAPH_uc010yun.1_Missense_Mutation_p.Q568K	p.Q704K	NM_015341	NP_056156	Q15003	CND2_HUMAN			16	2194	+		Ovarian(717;0.0221)	704					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.2110C>A	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.23|12.23	1.876375|1.876375	0.33162|0.33162	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000455200|ENST00000435349	T;T;T|.	0.43688|.	0.94;0.94;0.94|.	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	0.123367|.	0.56097|.	D|.	0.000023|.	T|.	0.61413|.	0.2345|.	L|L	0.52573|0.52573	1.65|1.65	0.40956|0.40956	D|D	0.984586|0.984586	B;P|.	0.37612|.	0.3;0.602|.	B;B|.	0.38225|.	0.065;0.268|.	T|.	0.60419|.	-0.7267|.	10|.	0.02654|.	T|.	1|.	-11.3806|-11.3806	12.911|12.911	0.58181|0.58181	0.1639:0.8361:0.0:0.0|0.1639:0.8361:0.0:0.0	.|.	680;704|.	B4DRG7;Q15003|.	.;CND2_HUMAN|.	K|X	704;568;693|144	ENSP00000240423:Q704K;ENSP00000400774:Q568K;ENSP00000407308:Q693K|.	ENSP00000240423:Q704K|.	Q|S	+|+	1|2	0|0	NCAPH|NCAPH	96398909|96398909	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.994000|2.994000	0.49433|0.49433	1.210000|1.210000	0.43336|0.43336	-0.181000|-0.181000	0.13052|0.13052	CAG|TCA		0.438	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	
SP3	6670	broad.mit.edu	37	2	174783399	174783399	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:174783399C>T	ENST00000310015.6	-	5	2284	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	SP3_ENST00000418194.2_Missense_Mutation_p.G517E|SP3_ENST00000455789.2_Missense_Mutation_p.G532E	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	585	Repressor domain.				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGTTGGTCCCCTTCTTCATC	0.448																																						uc002uig.3																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1753-1755)gGg>gAg		Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.							179.0	156.0	164.0					2																	174783399		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174783399C>T	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1754G>A	2.37:g.174783399C>T	ENSP00000310301:p.Gly585Glu					SP3_uc002uie.3_Missense_Mutation_p.G517E|SP3_uc002uif.3_Missense_Mutation_p.G532E|SP3_uc010zel.2_Missense_Mutation_p.G582E	p.G585E	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	2285	-			585			Repressor domain.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1754G>A	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.22|16.22	3.062089|3.062089	0.55432|0.55432	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|T	0.05513|0.05786	3.46;3.43;3.43|3.39	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.217367|0.217367	0.39083|0.39083	N|N	0.001471|0.001471	T|T	0.12305|0.12305	0.0299|0.0299	L|L	0.50333|0.50333	1.59|1.59	0.53688|0.53688	D|D	0.999975|0.999975	B;B;B|.	0.23990|.	0.095;0.025;0.007|.	B;B;B|.	0.19148|.	0.018;0.024;0.017|.	T|T	0.14504|0.14504	-1.0470|-1.0470	10|8	0.51188|0.16420	T|T	0.08|0.52	.|.	14.8462|14.8462	0.70261|0.70261	0.1438:0.8562:0.0:0.0|0.1438:0.8562:0.0:0.0	.|.	582;585;532|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	E|R	585;532;517|542	ENSP00000310301:G585E;ENSP00000388903:G532E;ENSP00000406140:G517E|ENSP00000413665:G542R	ENSP00000310301:G585E|ENSP00000413665:G542R	G|G	-|-	2|1	0|0	SP3|SP3	174491645|174491645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.586000|2.586000	0.46119|0.46119	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GGG|GGG		0.448	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
TTN	7273	broad.mit.edu	37	2	179483009	179483009	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179483009C>A	ENST00000591111.1	-	202	42477	c.42253G>T	c.(42253-42255)Gtt>Ttt	p.V14085F	TTN_ENST00000342175.6_Missense_Mutation_p.V6853F|TTN_ENST00000460472.2_Missense_Mutation_p.V6661F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V15726F|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6786F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13158F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14085	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTACTCAACTCCTCCTTTC	0.458																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39472-39474)Gtt>Ttt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							138.0	135.0	136.0					2																	179483009		1939	4149	6088	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483009C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42253G>T	2.37:g.179483009C>A	ENSP00000465570:p.Val14085Phe					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V6853F|TTN_uc021vta.1_Missense_Mutation_p.V6786F|TTN_uc021vtb.1_Missense_Mutation_p.V6661F	p.V13158F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		200	39697	-			14085			Ig-like 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39472G>T		.	.	.	.	.	.	.	.	.	.	C	8.615	0.889963	0.17540	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.6	2.84	0.33178	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45915	0.1366	L	0.54965	1.715	0.33712	D	0.6159	P;P;P;B	0.38335	0.627;0.627;0.627;0.317	B;B;B;B	0.33799	0.17;0.17;0.17;0.17	T	0.59085	-0.7520	9	0.87932	D	0	.	11.8257	0.52265	0.0:0.8293:0.0:0.1707	.	6661;6786;6853;14085	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	13158;6661;6853;6786;6661	ENSP00000343764:V13158F;ENSP00000434586:V6661F;ENSP00000340554:V6853F;ENSP00000352154:V6786F	ENSP00000340554:V6853F	V	-	1	0	TTN	179191254	0.995000	0.38212	0.626000	0.29213	0.824000	0.46624	0.750000	0.26334	0.407000	0.25591	0.650000	0.86243	GTT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179650718	179650718	+	Missense_Mutation	SNP	C	C	T	rs370728359		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179650718C>T	ENST00000591111.1	-	14	2451	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TTN_ENST00000342175.6_Missense_Mutation_p.A697T|TTN_ENST00000460472.2_Missense_Mutation_p.A697T|TTN_ENST00000589042.1_Missense_Mutation_p.A743T|TTN_ENST00000359218.5_Missense_Mutation_p.A697T|TTN_ENST00000342992.6_Missense_Mutation_p.A743T|TTN_ENST00000360870.5_Missense_Mutation_p.A743T			Q8WZ42	TITIN_HUMAN	titin	33584			A -> V (in CMD1G; affects interaction with TCAP/telethonin). {ECO:0000269|PubMed:11846417}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A743T(3)|p.A697T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTGCGGCGGAAATGCGT	0.547																																						uc021vsy.1																			6	Substitution - Missense(6)	p.A743T(3)|p.A697T(3)	urinary_tract(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2227-2229)Gcc>Acc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	98.0	89.0	92.0		2089,2089,2227,2227,2089	-1.1	0.0	2		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	697/27119,697/27052,743/5605,743/33424,697/26927	179650718	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650718C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2227G>A	2.37:g.179650718C>T	ENSP00000465570:p.Ala743Thr					TTN_uc021vsz.1_Missense_Mutation_p.A697T|TTN_uc021vta.1_Missense_Mutation_p.A697T|TTN_uc021vtb.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	p.A743T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	2452	-			743		A -> V (in CMD1G; affects interaction with TCAP/telethonin).			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2227G>A		.	.	.	.	.	.	.	.	.	.	C	7.909	0.736077	0.15574	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.18;0.17;0.16;0.12	6.17	-1.1	0.09872	Ribonuclease H-like (1);	.	.	.	.	T	0.41581	0.1165	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.0;0.0;0.017	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.001;0.004	T	0.26503	-1.0101	9	0.87932	D	0	.	6.8587	0.24054	0.0:0.4598:0.2009:0.3393	.	697;697;697;743;743	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	743;697;697;697;697;743	ENSP00000343764:A743T;ENSP00000434586:A697T;ENSP00000340554:A697T;ENSP00000352154:A697T;ENSP00000354117:A743T	ENSP00000340554:A697T	A	-	1	0	TTN	179358963	0.001000	0.12720	0.001000	0.08648	0.062000	0.15995	-0.068000	0.11561	-0.530000	0.06349	0.655000	0.94253	GCC		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
THAP4	51078	broad.mit.edu	37	2	242576398	242576398	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:242576398T>C	ENST00000407315.1	-	1	466	c.35A>G	c.(34-36)aAc>aGc	p.N12S	ATG4B_ENST00000405546.3_5'Flank|ATG4B_ENST00000404914.3_5'Flank|ATG4B_ENST00000402096.1_5'Flank|ATG4B_ENST00000396411.3_5'Flank|ATG4B_ENST00000474739.2_5'Flank	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	12							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCTGCCGGTTGGAGCAGTT	0.771																																						uc002wbt.3																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(34-36)aAc>aGc		Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.							11.0	10.0	11.0					2																	242576398		2123	4177	6300	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242576398T>C	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.35A>G	2.37:g.242576398T>C	ENSP00000385006:p.Asn12Ser					ATG4B_uc002wbu.3_5'Flank|ATG4B_uc002wbv.3_5'Flank|ATG4B_uc002wbw.3_5'Flank|ATG4B_uc010zox.2_5'Flank|ATG4B_uc010zoy.2_5'Flank|ATG4B_uc010fzp.3_5'Flank	p.N12S	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	0	328	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	12					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.35A>G	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761064	0.49468	.	.	ENSG00000176946	ENST00000407315	D	0.96300	-3.97	2.88	0.236	0.15471	Zinc finger, C2CH-type (3);	1.176280	0.06722	U	0.775140	D	0.92971	0.7763	N	0.26162	0.8	0.80722	D	1	P	0.41910	0.764	P	0.45660	0.489	D	0.86066	0.1535	10	0.87932	D	0	-15.2996	3.9327	0.09293	0.0:0.1245:0.2164:0.659	.	12	Q8WY91	THAP4_HUMAN	S	12	ENSP00000385006:N12S	ENSP00000385006:N12S	N	-	2	0	THAP4	242225071	1.000000	0.71417	0.138000	0.22173	0.423000	0.31445	1.457000	0.35212	0.148000	0.19059	0.156000	0.16432	AAC		0.771	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963	
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					uc010ztl.1																			2	Substitution - Missense(2)	p.D62V(2)|p.A32T(1)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(94-96)gAt>gTt		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron	p.D32V							1	127	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.95A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
REM1	28954	broad.mit.edu	37	20	30065686	30065686	+	Silent	SNP	C	C	T	rs147559982		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr20:30065686C>T	ENST00000201979.2	+	3	689	c.396C>T	c.(394-396)gtC>gtT	p.V132V	DEFB124_ENST00000481595.1_5'Flank	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	132					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACTGGTGGTCGTGGACACCT	0.572																																						uc002wwa.3																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(394-396)gtC>gtT		Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	95.0	74.0	81.0		396	1.3	1.0	20	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	REM1	NM_014012.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		132/299	30065686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30065686C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.396C>T	20.37:g.30065686C>T							p.V132V	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	680	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		132					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	c.396C>T	CCDS13181.1																																																																																				0.572	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	
ITGA9	3680	broad.mit.edu	37	3	37583996	37583996	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:37583996G>A	ENST00000264741.5	+	15	1865	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ITGA9_ENST00000422441.1_Missense_Mutation_p.E537K	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	537					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTGCTGGGAGAGACCATGGG	0.527																																						uc003chd.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(1609-1611)Gag>Aag		Homo sapiens integrin, alpha 9 (ITGA9), mRNA.							133.0	121.0	125.0					3																	37583996		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37583996G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1609G>A	3.37:g.37583996G>A	ENSP00000264741:p.Glu537Lys					ITGA9_uc003chc.3_Missense_Mutation_p.E537K	p.E537K	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	14	1662	+			537					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.1609G>A	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288126	0.59976	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.46451	0.87;0.87	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.124993	0.56097	D	0.000028	T	0.38026	0.1025	N	0.14661	0.345	0.53688	D	0.999972	P;P	0.42161	0.48;0.772	B;P	0.46758	0.407;0.526	T	0.08743	-1.0707	10	0.27785	T	0.31	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	537;537	Q13797;E9PDS3	ITA9_HUMAN;.	K	537	ENSP00000397258:E537K;ENSP00000264741:E537K	ENSP00000264741:E537K	E	+	1	0	ITGA9	37559000	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.314000	0.72848	2.753000	0.94483	0.557000	0.71058	GAG		0.527	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
SCN10A	6336	broad.mit.edu	37	3	38835414	38835414	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:38835414C>T	ENST00000449082.2	-	1	87	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	30					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCCTGCTTGGCAGCAATTTGC	0.507																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(88-90)Gcc>Acc		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						171.0	174.0	173.0					3																	38835414		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835414C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.88G>A	3.37:g.38835414C>T	ENSP00000390600:p.Ala30Thr						p.A30T	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	0	88	-			30					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.88G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015061	0.54468	.	.	ENSG00000185313	ENST00000449082	D	0.95821	-3.82	5.05	5.05	0.67936	.	1.595590	0.04035	N	0.302173	D	0.96962	0.9008	L	0.53249	1.67	0.25791	N	0.984611	D	0.64830	0.994	P	0.56434	0.798	D	0.89858	0.4014	10	0.87932	D	0	.	16.7597	0.85508	0.0:1.0:0.0:0.0	.	30	Q9Y5Y9	SCNAA_HUMAN	T	30	ENSP00000390600:A30T	ENSP00000390600:A30T	A	-	1	0	SCN10A	38810418	0.075000	0.21258	0.796000	0.32109	0.914000	0.54420	1.798000	0.38814	2.624000	0.88883	0.563000	0.77884	GCC		0.507	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
EPHA3	2042	broad.mit.edu	37	3	89259060	89259060	+	Nonsense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:89259060C>G	ENST00000336596.2	+	3	429	c.204C>G	c.(202-204)taC>taG	p.Y68*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Y68*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Y68*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	68	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAGGACTTACCAGGTGTGCA	0.438										TSP Lung(6;0.00050)																												uc003dqy.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(202-204)taC>taG		Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.							67.0	64.0	65.0					3																	89259060		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259060C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.204C>G	3.37:g.89259060C>G	ENSP00000337451:p.Tyr68*	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y68*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.Y68*	p.Y68*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	2	429	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	68					Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.204C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119623	0.94385	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.34	3.48	0.39840	.	0.069991	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7851	0.46401	0.0:0.8485:0.0:0.1515	.	.	.	.	X	68	.	.	Y	+	3	2	EPHA3	89341750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.738000	0.47401	0.574000	0.29417	0.563000	0.77884	TAC		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
OR5H1	26341	broad.mit.edu	37	3	97852369	97852369	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:97852369A>G	ENST00000354565.2	+	1	828	c.828A>G	c.(826-828)ctA>ctG	p.L276L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGGAGCCTCTATTCTACACTG	0.388																																						uc011bgt.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(826-828)ctA>ctG		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							107.0	113.0	111.0					3																	97852369		2203	4299	6502	SO:0001819	synonymous_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852369A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.828A>G	3.37:g.97852369A>G							p.L276L	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	828	+			276						Silent	SNP	ENST00000354565.2	37	c.828A>G	CCDS33797.1																																																																																				0.388	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
PARP9	83666	broad.mit.edu	37	3	122271392	122271392	+	Missense_Mutation	SNP	G	G	A	rs376922210		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:122271392G>A	ENST00000360356.2	-	5	1312	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	PARP9_ENST00000462315.1_Missense_Mutation_p.S327L|PARP9_ENST00000477522.2_Missense_Mutation_p.S327L|PARP9_ENST00000471785.1_Missense_Mutation_p.S327L|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	362	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGAAATTCCGATTTCATTTC	0.373																																						uc010hri.3																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1084-1086)tCg>tTg		Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	109.0	110.0	110.0		1085,980,980,980,980,1085	-8.6	0.0	3		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	145,145,145,145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	362/855,327/820,327/820,327/820,327/711,362/855	122271392	1,13005	2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122271392G>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1085C>T	3.37:g.122271392G>A	ENSP00000353512:p.Ser362Leu					PARP9_uc003eff.4_Missense_Mutation_p.S327L|PARP9_uc011bjs.2_Missense_Mutation_p.S327L|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S327L|PARP9_uc003efh.3_Missense_Mutation_p.S362L|PARP9_uc003efj.2_Missense_Mutation_p.S327L	p.S362L	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	1230	-			362			Macro 2.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1085C>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	2.565	-0.300966	0.05495	0.0	1.16E-4	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.3	-8.61	0.00885	Appr-1-p processing (3);	4.206180	0.00166	N	0.000019	T	0.07458	0.0188	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.16305	-1.0407	10	0.24483	T	0.36	.	3.2353	0.06762	0.4746:0.0963:0.073:0.3561	.	327;362;327	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	L	362;327;327;285;327	ENSP00000353512:S362L;ENSP00000419506:S327L;ENSP00000419001:S327L;ENSP00000418894:S327L	ENSP00000353512:S362L	S	-	2	0	PARP9	123754082	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.375000	0.02563	-4.880000	0.00028	-2.211000	0.00300	TCG		0.373	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
CPNE4	131034	broad.mit.edu	37	3	131261494	131261494	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:131261494C>T	ENST00000512055.1	-	19	3572	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	CPNE4_ENST00000502818.1_Missense_Mutation_p.M500I|CPNE4_ENST00000429747.1_Missense_Mutation_p.M482I|CPNE4_ENST00000512332.1_Missense_Mutation_p.M500I|CPNE4_ENST00000511604.1_Missense_Mutation_p.M482I			Q96A23	CPNE4_HUMAN	copine IV	482	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACCGTCCAGCATCTGCATGT	0.557																																						uc011blq.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1498-1500)atG>atA		Homo sapiens copine IV (CPNE4), mRNA.							179.0	150.0	160.0					3																	131261494		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261494C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1446G>A	3.37:g.131261494C>T	ENSP00000421705:p.Met482Ile					CPNE4_uc003eok.3_Missense_Mutation_p.M482I|CPNE4_uc003eol.3_Missense_Mutation_p.M500I|CPNE4_uc003eom.3_Missense_Mutation_p.M482I|CPNE4_uc003eoj.3_Missense_Mutation_p.M33I	p.M500I	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			14	1610	-			482			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1500G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422301	0.25639	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.035506	0.85682	D	0.000000	T	0.08492	0.0211	N	0.00869	-1.13	0.50813	D	0.999891	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36601	-0.9741	10	0.17832	T	0.49	-34.1664	19.5825	0.95473	0.0:1.0:0.0:0.0	.	500;482	Q96A23-2;Q96A23	.;CPNE4_HUMAN	I	482;482;500;482;500	ENSP00000421705:M482I;ENSP00000411904:M482I;ENSP00000424853:M500I;ENSP00000423811:M482I;ENSP00000421646:M500I	ENSP00000411904:M482I	M	-	3	0	CPNE4	132744184	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.280000	0.33202	2.624000	0.88883	0.655000	0.94253	ATG		0.557	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
NPHP3	27031	broad.mit.edu	37	3	132413753	132413754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:132413753_132413754insC	ENST00000337331.5	-	16	2313_2314	c.2227_2228insG	c.(2227-2229)gatfs	p.D743fs	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	743					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAGAGTATCTTGACACTGG	0.381																																						uc003epe.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2227-2229)gatfs		Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.																																				SO:0001589	frameshift_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132413753_132413754insC	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2228dupG	3.37:g.132413754_132413754dupC	ENSP00000338766:p.Asp743fs					NPHP3_uc003epd.2_5'UTR	p.D743fs	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			15	2331_2332	-			743					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Frame_Shift_Ins	INS	ENST00000337331.5	37	c.2227_2228insG	CCDS3078.1																																																																																				0.381	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	
ALG3	10195	broad.mit.edu	37	3	183961666	183961666	+	Missense_Mutation	SNP	G	G	A	rs2233466	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:183961666G>A	ENST00000397676.3	-	6	875	c.845C>T	c.(844-846)gCg>gTg	p.A282V	ALG3_ENST00000455059.1_Missense_Mutation_p.A242V|MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000445626.2_Missense_Mutation_p.A234V|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000418734.2_Missense_Mutation_p.A226V	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	282					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGAAGAGCGCCTCTGGGAG	0.612													G|||	3	0.000599042	0.0015	0.0	5008	,	,		18369	0.001		0.0	False		,,,				2504	0.0					uc003fne.2																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(844-846)gCg>gTg		Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	9,4059		0,9,2025	39.0	47.0	44.0		701,845	4.7	1.0	3	dbSNP_98	44	3,8375		0,3,4186	yes	missense,missense	ALG3	NM_001006941.2,NM_005787.5	64,64	0,12,6211	AA,AG,GG		0.0358,0.2212,0.0964	benign,benign	234/391,282/439	183961666	12,12434	2034	4189	6223	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183961666G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.845C>T	3.37:g.183961666G>A	ENSP00000380793:p.Ala282Val					ALG3_uc011brc.1_Missense_Mutation_p.A247V|ALG3_uc011brd.1_Missense_Mutation_p.A226V|ALG3_uc011bre.1_Missense_Mutation_p.A234V	p.A282V	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	876	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		282					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.845C>T	CCDS46968.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	15.74	2.924005	0.52653	0.002212	3.58E-4	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.58	4.68	0.58851	.	0.735699	0.12945	U	0.426294	T	0.80121	0.4565	L	0.53249	1.67	0.21950	N	0.999459	B;P;B;B	0.39520	0.386;0.676;0.366;0.16	B;B;B;B	0.31495	0.065;0.065;0.131;0.052	T	0.72590	-0.4247	10	0.46703	T	0.11	-2.2393	4.6424	0.12556	0.0809:0.1433:0.6067:0.1691	rs2233466	234;226;242;282	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	V	226;282;234;242	ENSP00000402976:A226V;ENSP00000380793:A282V;ENSP00000402744:A234V;ENSP00000397613:A242V	ENSP00000380793:A282V	A	-	2	0	ALG3	185444360	0.988000	0.35896	0.971000	0.41717	0.944000	0.59088	2.518000	0.45537	1.313000	0.45069	0.555000	0.69702	GCG		0.612	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787	
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc021xjp.1																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	p.H4205Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	12771	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
UGT2B27P	54569	broad.mit.edu	37	4	69870669	69870669	+	IGR	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:69870669C>A								UGT2A3 (53160 upstream) : UGT2B7 (46524 downstream)																							GCCACACAGGCCAGCAGGAAC	0.448																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1360-1362)Gcc>Tcc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							194.0	143.0	159.0					4																	69870669		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870669C>A																													4.37:g.69870669C>A						UGT2B10_uc011can.1_Missense_Mutation_p.A370S	p.A454S			P36537	UDB10_HUMAN			7	1486	-			498						Missense_Mutation	SNP		37	c.1360G>T																																																																																				0	0.448								
CDKL2	8999	broad.mit.edu	37	4	76522320	76522320	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:76522320T>C	ENST00000429927.2	-	9	1824	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	CDKL2_ENST00000307465.4_Missense_Mutation_p.N374S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	374					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGCTGGCATTTGAAGCTCT	0.393																																						uc011cbp.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1120-1122)aAt>aGt		Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.							173.0	153.0	160.0					4																	76522320		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76522320T>C	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1121A>G	4.37:g.76522320T>C	ENSP00000412365:p.Asn374Ser					CDKL2_uc003hiq.3_Missense_Mutation_p.N374S	p.N374S	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1646	-			374					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1121A>G	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822032	0.32237	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71461	1.01;-0.57	4.74	4.74	0.60224	.	.	.	.	.	T	0.60625	0.2283	L	0.32530	0.975	0.23827	N	0.996737	B;B	0.20368	0.044;0.031	B;B	0.19148	0.024;0.021	T	0.52961	-0.8505	9	0.44086	T	0.13	-35.5002	11.849	0.52401	0.0:0.0:0.0:1.0	.	374;374	B4DH08;Q92772	.;CDKL2_HUMAN	S	374	ENSP00000412365:N374S;ENSP00000306340:N374S	ENSP00000306340:N374S	N	-	2	0	CDKL2	76741344	0.947000	0.32204	0.997000	0.53966	0.627000	0.37826	4.111000	0.57838	1.977000	0.57605	0.482000	0.46254	AAT		0.393	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	
THAP9	79725	broad.mit.edu	37	4	83825996	83825996	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:83825996C>G	ENST00000302236.5	+	2	239	c.188C>G	c.(187-189)tCc>tGc	p.S63C		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	63					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATACTGTGTTCCAAACATTTT	0.403																																						uc003hnt.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(187-189)tCc>tGc		Homo sapiens THAP domain containing 9 (THAP9), mRNA.							90.0	91.0	91.0					4																	83825996		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83825996C>G	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.188C>G	4.37:g.83825996C>G	ENSP00000305533:p.Ser63Cys					THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_5'UTR	p.S63C	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			1	307	+		Hepatocellular(203;0.114)	63					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.188C>G	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597022	0.66332	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.97279	-4.32	3.56	3.56	0.40772	Zinc finger, C2CH-type (4);	0.330948	0.22296	N	0.061927	D	0.98267	0.9426	M	0.85462	2.755	0.30018	N	0.814563	D	0.89917	1.0	D	0.87578	0.998	D	0.95070	0.8203	9	.	.	.	-10.1069	12.9659	0.58483	0.0:1.0:0.0:0.0	.	63	Q9H5L6	THAP9_HUMAN	C	63	ENSP00000305533:S63C	.	S	+	2	0	THAP9	84045020	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.352000	0.52239	2.308000	0.77769	0.650000	0.86243	TCC		0.403	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
KLHL2	11275	broad.mit.edu	37	4	166199810	166199810	+	Intron	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:166199810G>A	ENST00000226725.6	+	5	803				KLHL2_ENST00000506761.1_Intron|KLHL2_ENST00000538127.1_Intron|KLHL2_ENST00000514860.1_Intron|KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000421009.2_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTAGCCAGCGAATAACAGCA	0.428																																						uc003ird.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(988-990)Cgc>Tgc		Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.																																				SO:0001627	intron_variant	2713				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:166199810G>A	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.544+15299G>A	4.37:g.166199810G>A						KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	p.R330C	NM_000167	NP_000158	P32189	GLPK_HUMAN			0	1366	-			336					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.988C>T	CCDS34094.1																																																																																				0.428	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		
DDX60L	91351	broad.mit.edu	37	4	169279395	169279395	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:169279395C>T	ENST00000511577.1	-	38	5271	c.5024G>A	c.(5023-5025)cGt>cAt	p.R1675H	DDX60L_ENST00000260184.7_Missense_Mutation_p.R1675H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1675							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACATTGTCACGCTTATTTTC	0.269																																						uc021xuh.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(5023-5025)cGt>cAt		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.							98.0	86.0	90.0					4																	169279395		1800	4071	5871	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169279395C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.5024G>A	4.37:g.169279395C>T	ENSP00000422423:p.Arg1675His					DDX60L_uc003irq.4_Missense_Mutation_p.R1675H	p.R1675H	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	36	5134	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1675					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.5024G>A		.	.	.	.	.	.	.	.	.	.	T	1.085	-0.665679	0.03428	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.18016	2.24;2.24	2.45	1.22	0.21188	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36672	-0.9738	9	0.34782	T	0.22	.	4.6434	0.12560	0.0:0.3246:0.0:0.6754	.	1675	Q5H9U9	DDX6L_HUMAN	H	1675	ENSP00000260184:R1675H;ENSP00000422423:R1675H	ENSP00000260184:R1675H	R	-	2	0	DDX60L	169515970	0.009000	0.17119	0.003000	0.11579	0.057000	0.15508	1.046000	0.30354	-0.167000	0.10871	-1.376000	0.01182	CGT		0.269	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
MYO10	4651	broad.mit.edu	37	5	16877810	16877810	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:16877810G>A	ENST00000513610.1	-	2	482	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MYO10_ENST00000507288.1_Missense_Mutation_p.R10W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	10					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGCCAGACCCGTGTTCCCTGT	0.438																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(28-30)Cgg>Tgg		Homo sapiens myosin X (MYO10), mRNA.							59.0	59.0	59.0					5																	16877810		1969	4176	6145	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16877810G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.28C>T	5.37:g.16877810G>A	ENSP00000421280:p.Arg10Trp					MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Missense_Mutation_p.R10W	p.R10W	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			1	496	-			10			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.28C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904210	0.52333	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000507288	D;D;D	0.88124	-2.32;-2.34;-2.0	5.32	5.32	0.75619	.	.	.	.	.	T	0.81278	0.4789	L	0.48260	1.515	0.80722	D	1	P;P	0.42375	0.778;0.487	B;B	0.30855	0.121;0.015	T	0.82454	-0.0449	9	0.39692	T	0.17	.	16.482	0.84160	0.0:0.0:1.0:0.0	.	10;10	Q8IVX5;Q9HD67	.;MYO10_HUMAN	W	10;21;10	ENSP00000421280:R10W;ENSP00000421309:R21W;ENSP00000426664:R10W	ENSP00000426664:R10W	R	-	1	2	MYO10	16930810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.722000	0.61958	2.486000	0.83907	0.561000	0.74099	CGG		0.438	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
PARP8	79668	broad.mit.edu	37	5	50091080	50091080	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:50091080A>G	ENST00000281631.5	+	12	1415	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	PARP8_ENST00000505697.2_Silent_p.E419E|PARP8_ENST00000514342.2_Silent_p.E172E|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Silent_p.E419E|PARP8_ENST00000503750.2_Silent_p.E419E|PARP8_ENST00000505554.1_Silent_p.E398E	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	419						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATGGAAGAATTATATGGAC	0.438																																						uc003jon.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1255-1257)gaA>gaG		Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.							80.0	80.0	80.0					5																	50091080		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091080A>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1257A>G	5.37:g.50091080A>G						PARP8_uc011cpz.2_Silent_p.E311E|PARP8_uc003joo.3_Silent_p.E419E|PARP8_uc003jop.3_Silent_p.E419E	p.E419E	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN			12	1439	+		Lung NSC(810;0.0305)|Breast(144;0.222)	419					Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.1257A>G	CCDS3954.1																																																																																				0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
DDX4	54514	broad.mit.edu	37	5	55083703	55083703	+	Silent	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:55083703T>C	ENST00000505374.1	+	15	1139	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	DDX4_ENST00000353507.5_Silent_p.H315H|DDX4_ENST00000514278.2_Silent_p.H329H|DDX4_ENST00000354991.5_Silent_p.H315H|DDX4_ENST00000511853.1_Silent_p.H200H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	349	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGGCTCATATGATGCATG	0.383																																						uc003jqg.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1045-1047)caT>caC		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.							100.0	102.0	101.0					5																	55083703		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55083703T>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1047T>C	5.37:g.55083703T>C						DDX4_uc010ivz.3_Silent_p.H329H|DDX4_uc003jqh.4_Silent_p.H315H|DDX4_uc003jqj.3_Silent_p.H200H	p.H349H	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN			14	1146	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	349			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1047T>C	CCDS3969.1																																																																																				0.383	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	
MAST4	375449	broad.mit.edu	37	5	66460727	66460727	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:66460727C>A	ENST00000403625.2	+	29	6015	c.5720C>A	c.(5719-5721)gCc>gAc	p.A1907D	MAST4_ENST00000404260.3_Missense_Mutation_p.A1910D|MAST4_ENST00000405643.1_Missense_Mutation_p.A1728D|MAST4_ENST00000403666.1_Missense_Mutation_p.A1718D|MAST4_ENST00000261569.7_Missense_Mutation_p.A1713D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1910						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CATCCTACTGCCAGGAGCCCT	0.582																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5719-5721)gCc>gAc		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							48.0	54.0	52.0					5																	66460727		1994	4168	6162	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460727C>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5720C>A	5.37:g.66460727C>A	ENSP00000385727:p.Ala1907Asp					MAST4_uc003jut.2_Missense_Mutation_p.A1718D|MAST4_uc003juw.3_Missense_Mutation_p.A1646D|MAST4_uc003jux.3_5'Flank	p.A1907D	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	28	6028	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1910					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.5720C>A	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.36|13.36	2.214797|2.214797	0.39102|0.39102	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.69175|.	-0.36;-0.36;-0.38;-0.38;-0.35|.	4.78|4.78	1.64|1.64	0.23874|0.23874	.|.	1.556490|.	0.03664|.	N|.	0.243071|.	T|.	0.33731|.	0.0873|.	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;P|.	0.36837|.	0.435;0.571|.	B;B|.	0.34385|.	0.088;0.181|.	T|.	0.23833|.	-1.0177|.	10|.	0.72032|.	D|.	0.01|.	-3.3619|-3.3619	8.7169|8.7169	0.34416|0.34416	0.0:0.5974:0.3124:0.0902|0.0:0.5974:0.3124:0.0902	.|.	1910;1718|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	D|X	1910;1907;1718;1728;1728;1713|963	ENSP00000385048:A1910D;ENSP00000385727:A1907D;ENSP00000384313:A1718D;ENSP00000384099:A1728D;ENSP00000261569:A1713D|.	ENSP00000261569:A1713D|.	A|C	+|+	2|3	0|2	MAST4|MAST4	66496483|66496483	0.001000|0.001000	0.12720|0.12720	0.060000|0.060000	0.19600|0.19600	0.186000|0.186000	0.23388|0.23388	0.432000|0.432000	0.21461|0.21461	0.556000|0.556000	0.29098|0.29098	0.467000|0.467000	0.42956|0.42956	GCC|TGC		0.582	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
PIK3R1	5295	broad.mit.edu	37	5	67591145	67591145	+	Missense_Mutation	SNP	T	T	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:67591145T>G	ENST00000521381.1	+	13	2354	c.1738T>G	c.(1738-1740)Tac>Gac	p.Y580D	PIK3R1_ENST00000523872.1_Missense_Mutation_p.Y217D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.Y310D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Y580D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Y280D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Y580D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Y580D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	580					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R577_M582>K(1)|p.Q579_Y580insDK(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAGAGACCAATACTTGATGTA	0.368			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		4	Insertion - In frame(1)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	p.R577_M582>K(2)|p.Q579_Y580insDK(2)|p.0?(1)|p.?(1)|p.Q579fs*23(1)|p.Y580fs*1(1)	large_intestine(1)|lung(1)|breast(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1738-1740)Tac>Gac		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						138.0	137.0	138.0					5																	67591145		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591145T>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1738T>G	5.37:g.67591145T>G	ENSP00000428056:p.Tyr580Asp	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.Y280D|PIK3R1_uc003jvd.3_Missense_Mutation_p.Y310D|PIK3R1_uc003jve.3_Missense_Mutation_p.Y259D|PIK3R1_uc021xzn.1_Missense_Mutation_p.Y217D|PIK3R1_uc011crb.2_Missense_Mutation_p.Y250D	p.Y580D	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2318	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	580					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1738T>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315623	0.81469	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	0.997;0.994;0.994;1.0	D;D;D;D	0.78314	0.942;0.949;0.949;0.991	T	0.65158	-0.6236	10	0.66056	D	0.02	-14.7418	14.6505	0.68794	0.0:0.0:0.0:1.0	.	250;310;280;580	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	D	580;580;580;580;280;310;217	ENSP00000428056:Y580D;ENSP00000429277:Y580D;ENSP00000379855:Y580D;ENSP00000274335:Y580D;ENSP00000323512:Y280D;ENSP00000338554:Y310D;ENSP00000430098:Y217D	ENSP00000274335:Y580D	Y	+	1	0	PIK3R1	67626901	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	7.825000	0.86693	2.103000	0.63969	0.477000	0.44152	TAC		0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PCDHA3	56145	broad.mit.edu	37	5	140182250	140182250	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140182250G>C	ENST00000522353.2	+	1	1468	c.1468G>C	c.(1468-1470)Gtg>Ctg	p.V490L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V490L	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCCTGGTGTCCTACTC	0.677																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1468-1470)Gtg>Ctg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							83.0	88.0	86.0					5																	140182250		2203	4299	6502	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140182250G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1468G>C	5.37:g.140182250G>C	ENSP00000429808:p.Val490Leu					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V490L	p.V490L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1468	+			504			Cadherin 5.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1468G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	15.29	2.789461	0.49997	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53206	0.63;0.63	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.37623	U	0.002010	T	0.50582	0.1624	N	0.21448	0.665	0.23681	N	0.99712	D;D	0.76494	0.981;0.999	P;D	0.68353	0.873;0.957	T	0.39418	-0.9615	10	0.36615	T	0.2	.	11.6726	0.51411	0.0827:0.0:0.9173:0.0	.	490;490	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	490	ENSP00000429808:V490L;ENSP00000434086:V490L	ENSP00000429808:V490L	V	+	1	0	PCDHA3	140162434	0.672000	0.27530	0.970000	0.41538	0.790000	0.44656	0.795000	0.26972	2.374000	0.81015	0.461000	0.40582	GTG		0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA13	56136	broad.mit.edu	37	5	140263908	140263908	+	Silent	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140263908C>T	ENST00000289272.2	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G685G|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2053-2055)ggC>ggT		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							62.0	53.0	56.0					5																	140263908		2203	4299	6502	SO:0001819	synonymous_variant	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263908C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2055C>T	5.37:g.140263908C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2055	+			698			Cadherin 6.		O75277	Silent	SNP	ENST00000289272.2	37	c.2055C>T	CCDS4240.1																																																																																				0.632	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
KIF4B	285643	broad.mit.edu	37	5	154393521	154393521	+	Silent	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:154393521C>T	ENST00000435029.4	+	1	262	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	34	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCTTTCCTTCGTGCCCGGGG	0.512																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(100-102)ttC>ttT		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							108.0	103.0	104.0					5																	154393521		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393521C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.102C>T	5.37:g.154393521C>T							p.F34F	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	262	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	34			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.102C>T	CCDS47324.1																																																																																				0.512	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
ADAMTS2	9509	broad.mit.edu	37	5	178579165	178579165	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:178579165C>T	ENST00000251582.7	-	10	1708	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.G536E	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	536	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACACATAGTCCCGTCCAAGGG	0.602																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1606-1608)gGg>gAg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							61.0	56.0	58.0					5																	178579165		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178579165C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1607G>A	5.37:g.178579165C>T	ENSP00000251582:p.Gly536Glu					ADAMTS2_uc011dgm.2_Missense_Mutation_p.G536E	p.G536E	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	9	1709	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	536			Disintegrin.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1607G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515473	0.64634	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;D	0.85955	-1.04;-2.05	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000022	D	0.94742	0.8303	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95988	0.8983	10	0.87932	D	0	.	18.1139	0.89545	0.0:1.0:0.0:0.0	.	536;536	O95450-2;O95450	.;ATS2_HUMAN	E	536	ENSP00000251582:G536E;ENSP00000274609:G536E	ENSP00000251582:G536E	G	-	2	0	ADAMTS2	178511771	1.000000	0.71417	0.960000	0.40013	0.089000	0.18198	7.621000	0.83083	2.513000	0.84729	0.556000	0.70494	GGG		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
COL11A2	1302	broad.mit.edu	37	6	33132163	33132163	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:33132163C>A	ENST00000374708.4	-	63	4951	c.4693G>T	c.(4693-4695)Gtc>Ttc	p.V1565F	COL11A2_ENST00000395197.1_Missense_Mutation_p.V1591F|COL11A2_ENST00000374714.1_Missense_Mutation_p.V1625F|COL11A2_ENST00000357486.1_Missense_Mutation_p.V1630F|COL11A2_ENST00000374713.1_Missense_Mutation_p.V1604F|COL11A2_ENST00000361917.1_Missense_Mutation_p.V1544F|COL11A2_ENST00000374712.1_Missense_Mutation_p.V1570F|COL11A2_ENST00000341947.2_Missense_Mutation_p.V1651F|COL11A2_ENST00000477772.1_5'UTR	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1651	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTAGGAGACGTCCTGGTGG	0.622																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4951-4953)Gtc>Ttc		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							26.0	21.0	23.0					6																	33132163		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33132163C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4693G>T	6.37:g.33132163C>A	ENSP00000363840:p.Val1565Phe					COL11A2_uc010jul.1_Missense_Mutation_p.V221F|COL11A2_uc003ocy.1_Missense_Mutation_p.V1565F|COL11A2_uc003ocz.1_Missense_Mutation_p.V1544F	p.V1651F	NM_080680	NP_542411	P13942	COBA2_HUMAN			64	5179	-			1651			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4951G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540281	0.13250	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.87	0.64	0.17752	Fibrillar collagen, C-terminal (4);	0.352782	0.26136	N	0.026127	T	0.18130	0.0435	N	0.04260	-0.245	0.25279	N	0.989459	B;B;B;B	0.29341	0.242;0.0;0.0;0.0	B;B;B;B	0.31547	0.132;0.002;0.002;0.003	T	0.46005	-0.9222	10	0.02654	T	1	.	4.2733	0.10797	0.148:0.4788:0.0:0.3732	.	247;1544;1565;1651	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	F	1565;1651;1630;1625;1604;1591;1570;1544;221	ENSP00000363840:V1565F;ENSP00000339915:V1651F;ENSP00000350079:V1630F;ENSP00000363846:V1625F;ENSP00000363845:V1604F;ENSP00000378623:V1591F;ENSP00000363844:V1570F;ENSP00000355123:V1544F	ENSP00000339915:V1651F	V	-	1	0	COL11A2	33240141	0.040000	0.19996	0.795000	0.32087	0.760000	0.43138	-0.051000	0.11885	-0.068000	0.12953	-0.743000	0.03520	GTC		0.622	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
CLPSL1	340204	broad.mit.edu	37	6	35754829	35754829	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:35754829C>T	ENST00000373861.5	+	2	248	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	CLPSL1_ENST00000542261.1_Missense_Mutation_p.R51C			A2RUU4	COLL1_HUMAN	colipase-like 1	52					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CTGCTGCCAACGTGCTCCAGA	0.672																																						uc003old.4																			0											c.(154-156)Cgt>Tgt		Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.							19.0	27.0	25.0					6																	35754829		2153	4253	6406	SO:0001583	missense	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754829C>T		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.154C>T	6.37:g.35754829C>T	ENSP00000362968:p.Arg52Cys						p.R52C	NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN			1	211	+			52					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	c.154C>T	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	C	3.884	-0.025398	0.07589	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.36157	1.27;1.27	2.15	-4.05	0.03998	.	0.394329	0.14496	U	0.316004	T	0.16599	0.0399	L	0.47190	1.495	0.09310	N	1	D	0.67145	0.996	P	0.54815	0.761	T	0.07693	-1.0759	10	0.87932	D	0	.	0.1532	0.00095	0.3361:0.2426:0.1664:0.2548	.	52	A2RUU4	CF127_HUMAN	C	52;52;51;5	ENSP00000362968:R52C;ENSP00000438478:R51C	ENSP00000362967:R52C	R	+	1	0	C6orf127	35862807	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.595000	0.02093	-1.247000	0.02507	0.460000	0.39030	CGT		0.672	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886	
KHDRBS2	202559	broad.mit.edu	37	6	62407128	62407128	+	Silent	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:62407128T>C	ENST00000281156.4	-	8	1202	c.924A>G	c.(922-924)ggA>ggG	p.G308G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	308			G -> A (in dbSNP:rs7449840).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTCACTTACTCCATGACCGT	0.378																																						uc003peg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(922-924)ggA>ggG		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							135.0	110.0	118.0					6																	62407128		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62407128T>C	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.924A>G	6.37:g.62407128T>C							p.G308G	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	7	1171	-			308		G -> A (in dbSNP:rs7449840).			A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.924A>G	CCDS4963.1																																																																																				0.378	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
EYS	346007	broad.mit.edu	37	6	66094367	66094367	+	Missense_Mutation	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:66094367T>A	ENST00000370621.3	-	8	1737	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	EYS_ENST00000503581.1_Missense_Mutation_p.N404I|EYS_ENST00000370616.2_Missense_Mutation_p.N404I|EYS_ENST00000370618.3_Missense_Mutation_p.N404I|EYS_ENST00000393380.2_Missense_Mutation_p.N404I|EYS_ENST00000342421.5_Missense_Mutation_p.N404I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	404	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCTCACAGTTTTTTTCAGT	0.284																																						uc011dxu.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1210-1212)aAc>aTc		Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.							86.0	81.0	82.0					6																	66094367		2201	4293	6494	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66094367T>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1211A>T	6.37:g.66094367T>A	ENSP00000359655:p.Asn404Ile					EYS_uc003peq.3_Missense_Mutation_p.N404I|EYS_uc003per.1_Missense_Mutation_p.N404I|EYS_uc021zbn.1_Missense_Mutation_p.N404I	p.N404I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			7	1749	-			404			EGF-like 5.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1211A>T		.	.	.	.	.	.	.	.	.	.	T	17.50	3.405941	0.62288	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	6.01	2.24	0.28232	.	.	.	.	.	T	0.13543	0.0328	M	0.62088	1.915	0.23542	N	0.997459	P;P;P	0.51240	0.577;0.943;0.906	B;B;B	0.43728	0.22;0.429;0.177	T	0.10823	-1.0613	9	0.29301	T	0.29	.	6.1027	0.20057	0.1207:0.1336:0.0:0.7458	.	404;404;404	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	404	ENSP00000424243:N404I;ENSP00000359655:N404I;ENSP00000359650:N404I;ENSP00000377042:N404I;ENSP00000341818:N404I;ENSP00000359652:N404I	ENSP00000341818:N404I	N	-	2	0	EYS	66151088	1.000000	0.71417	0.674000	0.29902	0.965000	0.64279	3.066000	0.50002	0.143000	0.18926	0.496000	0.49642	AAC		0.284	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
NT5E	4907	broad.mit.edu	37	6	86203654	86203654	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:86203654C>T	ENST00000257770.3	+	9	1706	c.1657C>T	c.(1657-1659)Cac>Tac	p.H553Y	NT5E_ENST00000369651.3_Missense_Mutation_p.H503Y	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	553					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CACAGGAAGTCACTGCCATGG	0.363																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1657-1659)Cac>Tac		Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	Pentoxifylline(DB00806)						99.0	102.0	101.0					6																	86203654		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86203654C>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1657C>T	6.37:g.86203654C>T	ENSP00000257770:p.His553Tyr					NT5E_uc010kbr.3_Missense_Mutation_p.H503Y	p.H553Y	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	8	2213	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	553					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1657C>T	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.266825	0.00259	.	.	ENSG00000135318	ENST00000257770;ENST00000369651	T;T	0.54866	0.57;0.55	5.79	0.857	0.19025	.	0.793515	0.12316	N	0.479717	T	0.14743	0.0356	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32322	-0.9911	10	0.08179	T	0.78	-2.4486	5.3506	0.16034	0.1296:0.435:0.0:0.4354	.	503;553	B3KQI8;P21589	.;5NTD_HUMAN	Y	553;503	ENSP00000257770:H553Y;ENSP00000358665:H503Y	ENSP00000257770:H553Y	H	+	1	0	NT5E	86260373	0.000000	0.05858	0.210000	0.23637	0.148000	0.21650	-0.061000	0.11693	0.072000	0.16694	-0.136000	0.14681	CAC		0.363	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1		
ROS1	6098	broad.mit.edu	37	6	117715327	117715327	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:117715327G>C	ENST00000368508.3	-	10	1360	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	ROS1_ENST00000368507.3_Missense_Mutation_p.L397V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	388					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGACTAACCAGTTCATCCATG	0.323			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1162-1164)Ctg>Gtg		Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.							48.0	49.0	49.0					6																	117715327		2202	4298	6500	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117715327G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1162C>G	6.37:g.117715327G>C	ENSP00000357494:p.Leu388Val					ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	p.L388V	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	9	1361	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	388					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1162C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984660	0.18889	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91180	-2.8;-2.8	5.12	2.16	0.27623	.	1.037830	0.07651	N	0.932050	T	0.75796	0.3898	L	0.36672	1.1	0.37926	D	0.931858	B	0.27498	0.18	B	0.20767	0.031	T	0.71377	-0.4611	10	0.51188	T	0.08	.	6.3983	0.21624	0.1667:0.0:0.642:0.1912	.	388	P08922	ROS1_HUMAN	V	388;397	ENSP00000357494:L388V;ENSP00000357493:L397V	ENSP00000357493:L397V	L	-	1	2	ROS1	117822020	0.998000	0.40836	0.698000	0.30274	0.961000	0.63080	1.714000	0.37961	0.825000	0.34637	0.650000	0.86243	CTG		0.323	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
CLVS2	134829	broad.mit.edu	37	6	123319281	123319281	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:123319281T>C	ENST00000275162.5	+	2	1694	c.359T>C	c.(358-360)gTc>gCc	p.V120A	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	120	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGATTCTAGTCCTTTTTGCT	0.483																																						uc003pzi.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(358-360)gTc>gCc		Homo sapiens clavesin 2 (CLVS2), mRNA.							53.0	49.0	51.0					6																	123319281		2203	4299	6502	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319281T>C	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.359T>C	6.37:g.123319281T>C	ENSP00000275162:p.Val120Ala						p.V120A	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			1	1228	+			120			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.359T>C	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920292	0.73098	.	.	ENSG00000146352	ENST00000275162	T	0.76578	-1.03	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.80616	2.505	0.80722	D	1	P	0.37122	0.583	B	0.43701	0.428	T	0.82329	-0.0511	10	0.66056	D	0.02	-2.7365	15.7462	0.77944	0.0:0.0:0.0:1.0	.	120	Q5SYC1	CLVS2_HUMAN	A	120	ENSP00000275162:V120A	ENSP00000275162:V120A	V	+	2	0	CLVS2	123360980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.106000	0.71511	2.307000	0.77673	0.528000	0.53228	GTC		0.483	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852	
KIAA1244	57221	broad.mit.edu	37	6	138638494	138638494	+	Missense_Mutation	SNP	G	G	C	rs377036338	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:138638494G>C	ENST00000251691.4	+	27	4618	c.4452G>C	c.(4450-4452)ttG>ttC	p.L1484F		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGAGCTGTTGAGAGATGTGA	0.468																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(4450-4452)ttG>ttC		Homo sapiens KIAA1244 (KIAA1244), mRNA.							91.0	81.0	84.0					6																	138638494		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138638494G>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4452G>C	6.37:g.138638494G>C	ENSP00000251691:p.Leu1484Phe						p.L1484F	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	26	4623	+	Breast(32;0.135)		1484						Missense_Mutation	SNP	ENST00000251691.4	37	c.4452G>C	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800125	0.50208	.	.	ENSG00000112379	ENST00000251691	T	0.09163	3.01	5.84	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.10594	0.0259	L	0.28274	0.84	0.46678	D	0.99915	D	0.76494	0.999	D	0.85130	0.997	T	0.10965	-1.0607	10	0.42905	T	0.14	-4.4059	10.0059	0.41957	0.2089:0.0:0.7911:0.0	.	1484	Q5TH69	BIG3_HUMAN	F	1484	ENSP00000251691:L1484F	ENSP00000251691:L1484F	L	+	3	2	KIAA1244	138680187	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.918000	0.40006	1.475000	0.48197	0.655000	0.94253	TTG		0.468	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
SP4	6671	broad.mit.edu	37	7	21469834	21469834	+	Missense_Mutation	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:21469834T>A	ENST00000222584.3	+	3	1269	c.1051T>A	c.(1051-1053)Tca>Aca	p.S351T		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	351					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGCAAGCACATCAGCCAGTAG	0.502																																						uc003sva.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1051-1053)Tca>Aca		Homo sapiens Sp4 transcription factor (SP4), mRNA.							99.0	78.0	85.0					7																	21469834		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469834T>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1051T>A	7.37:g.21469834T>A	ENSP00000222584:p.Ser351Thr					SP4_uc003svb.3_Missense_Mutation_p.S38T	p.S351T	NM_003112	NP_003103	Q02446	SP4_HUMAN			2	1232	+			351					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1051T>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	T	0.060	-1.226095	0.01518	.	.	ENSG00000105866	ENST00000222584	T	0.09630	2.96	4.61	3.37	0.38596	.	0.335242	0.25683	N	0.028990	T	0.04407	0.0121	N	0.05078	-0.115	0.44985	D	0.998009	B	0.16166	0.016	B	0.14578	0.011	T	0.28004	-1.0057	10	0.06625	T	0.88	.	10.9119	0.47114	0.0:0.0:0.2292:0.7708	.	351	Q02446	SP4_HUMAN	T	351	ENSP00000222584:S351T	ENSP00000222584:S351T	S	+	1	0	SP4	21436359	0.865000	0.29922	1.000000	0.80357	0.997000	0.91878	0.747000	0.26290	2.070000	0.61991	0.533000	0.62120	TCA		0.502	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
DYNC1I1	1780	broad.mit.edu	37	7	95665015	95665015	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:95665015G>A	ENST00000324972.6	+	13	1559	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V439M|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V436M|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V439M|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V419M|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V419M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	456					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAATAACTTCGTGGTTGGCAG	0.473																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1366-1368)Gtg>Atg		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							337.0	273.0	295.0					7																	95665015		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665015G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1366G>A	7.37:g.95665015G>A	ENSP00000320130:p.Val456Met					DYNC1I1_uc003uod.4_Missense_Mutation_p.V439M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V419M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V436M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V445M	p.V456M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		12	1643	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		456					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1366G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727467	0.69074	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.65815	0.992;0.995;0.995;0.992;0.995	P;D;D;P;P	0.66497	0.879;0.944;0.944;0.879;0.888	T	0.00234	-1.1893	10	0.30078	T	0.28	-0.4926	19.0933	0.93238	0.0:0.0:1.0:0.0	.	439;436;439;456;419	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	M	439;456;419;436;419;439	ENSP00000392337:V439M;ENSP00000320130:V456M;ENSP00000438377:V419M;ENSP00000398118:V436M;ENSP00000352348:V419M;ENSP00000412444:V439M	ENSP00000320130:V456M	V	+	1	0	DYNC1I1	95502951	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	9.657000	0.98554	2.830000	0.97506	0.585000	0.79938	GTG		0.473	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
SLC12A9	56996	broad.mit.edu	37	7	100451836	100451836	+	Nonsense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:100451836C>G	ENST00000354161.3	+	2	142	c.17C>G	c.(16-18)tCa>tGa	p.S6*	SLC12A9_ENST00000540482.1_Nonsense_Mutation_p.S6*|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000415287.1_Nonsense_Mutation_p.S6*|SLC12A9_ENST00000428758.1_Nonsense_Mutation_p.S6*|SLC12A9_ENST00000275729.3_Nonsense_Mutation_p.S6*	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	6					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCGAGAGCTCACCTCTGCTG	0.632																																						uc003uwp.3																			0		p.S6S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(16-18)tCa>tGa		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.							31.0	35.0	33.0					7																	100451836		2202	4298	6500	SO:0001587	stop_gained	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100451836C>G	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.17C>G	7.37:g.100451836C>G	ENSP00000275730:p.Ser6*					SLC12A9_uc003uwo.1_Nonsense_Mutation_p.S6*|SLC12A9_uc003uwq.3_Nonsense_Mutation_p.S6*|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	p.S6*	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			1	159	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		6					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Nonsense_Mutation	SNP	ENST00000354161.3	37	c.17C>G	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958191	0.92726	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675;ENST00000434158	.	.	.	4.53	4.53	0.55603	.	0.081206	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6117	0.56554	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000275729:S6X	S	+	2	0	SLC12A9	100289772	0.982000	0.34865	0.969000	0.41365	0.786000	0.44442	5.361000	0.66092	2.340000	0.79590	0.407000	0.27541	TCA		0.632	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	
PLXNA4	91584	broad.mit.edu	37	7	131883269	131883269	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:131883269C>T	ENST00000359827.3	-	13	3675	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V905M			Q9HCM2	PLXA4_HUMAN	plexin A4	905	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V905M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAACCATCCACTAAAGGGCTG	0.562																																						uc003vra.4																			2	Substitution - Missense(2)	p.V905M(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2713-2715)Gtg>Atg		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							71.0	71.0	71.0					7																	131883269		2021	4187	6208	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131883269C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2713G>A	7.37:g.131883269C>T	ENSP00000352882:p.Val905Met						p.V905M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			12	2942	-			905			IPT/TIG 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2713G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931994	0.73442	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.78126	-1.15;-1.15	5.42	5.42	0.78866	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.253872	0.40640	N	0.001047	T	0.73636	0.3612	N	0.14661	0.345	0.39259	D	0.964186	P	0.38617	0.64	P	0.51055	0.657	T	0.77236	-0.2662	10	0.62326	D	0.03	.	12.6834	0.56934	0.0:0.9253:0.0:0.0747	.	905	Q9HCM2	PLXA4_HUMAN	M	905	ENSP00000323194:V905M;ENSP00000352882:V905M	ENSP00000323194:V905M	V	-	1	0	PLXNA4	131533809	0.967000	0.33354	0.995000	0.50966	0.884000	0.51177	2.668000	0.46816	2.820000	0.97059	0.650000	0.86243	GTG		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
BLK	640	broad.mit.edu	37	8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	rs142352008	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:11400849C>T	ENST00000259089.4	+	2	708	c.116C>T	c.(115-117)cCg>cTg	p.P39L	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	39					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													C|||	4	0.000798722	0.0	0.0014	5008	,	,		16043	0.0		0.003	False		,,,				2504	0.0					uc003wty.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(115-117)cCg>cTg		Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.		C	LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	38.0	44.0	42.0		116	5.5	0.9	8	dbSNP_134	42	30,8570	20.4+/-63.3	0,30,4270	yes	missense	BLK	NM_001715.2	98	0,35,6468	TT,TC,CC		0.3488,0.1135,0.2691	probably-damaging	39/506	11400849	35,12971	2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11400849C>T	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.116C>T	8.37:g.11400849C>T	ENSP00000259089:p.Pro39Leu						p.P39L	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	1	697	+			39					Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.116C>T	CCDS5982.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	11.99	1.802484	0.31869	0.001135	0.003488	ENSG00000136573	ENST00000259089;ENST00000427279	T	0.76578	-1.03	5.54	5.54	0.83059	Src homology-3 domain (1);	0.000000	0.43416	D	0.000571	T	0.57533	0.2060	N	0.08118	0	0.80722	D	1	P	0.36412	0.552	B	0.24701	0.055	T	0.66148	-0.5996	10	0.66056	D	0.02	.	14.9922	0.71396	0.0:1.0:0.0:0.0	.	39	P51451	BLK_HUMAN	L	39	ENSP00000259089:P39L	ENSP00000259089:P39L	P	+	2	0	BLK	11438258	0.984000	0.35163	0.878000	0.34440	0.012000	0.07955	3.424000	0.52764	2.591000	0.87537	0.555000	0.69702	CCG		0.532	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1		
GRHL2	79977	broad.mit.edu	37	8	102585963	102585963	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:102585963A>T	ENST00000251808.3	+	6	1140	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	GRHL2_ENST00000395927.1_Missense_Mutation_p.T252S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	268					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGCCCCATGACCTACCTCAA	0.532																																						uc010mbu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(802-804)Acc>Tcc		Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.							83.0	69.0	74.0					8																	102585963		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585963A>T	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.802A>T	8.37:g.102585963A>T	ENSP00000251808:p.Thr268Ser					GRHL2_uc011lhi.1_Missense_Mutation_p.T268S	p.T268S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		5	1132	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		268					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.802A>T	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971083	0.53614	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.26067	1.76;1.76	5.8	5.8	0.92144	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.45228	1.405	0.80722	D	1	D;B	0.76494	0.999;0.423	D;B	0.83275	0.996;0.31	T	0.19778	-1.0295	10	0.42905	T	0.14	-32.3406	16.1475	0.81580	1.0:0.0:0.0:0.0	.	268;268	B4DL28;Q6ISB3	.;GRHL2_HUMAN	S	268;252;268	ENSP00000251808:T268S;ENSP00000379260:T252S	ENSP00000251808:T268S	T	+	1	0	GRHL2	102655139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.213000	0.71641	0.528000	0.53228	ACC		0.532	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
FER1L6	654463	broad.mit.edu	37	8	124992825	124992825	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:124992825G>A	ENST00000522917.1	+	11	1390	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	FER1L6_ENST00000399018.1_Missense_Mutation_p.G395D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	395						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTCAGGGGCAGAATCTTG	0.507											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yqw.3																			0		p.R394K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1183-1185)gGc>gAc		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							163.0	163.0	163.0					8																	124992825		1887	4117	6004	SO:0001583	missense	654463					integral to membrane		g.chr8:124992825G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1184G>A	8.37:g.124992825G>A	ENSP00000428280:p.Gly395Asp		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538		p.G395D	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		10	1390	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		395						Missense_Mutation	SNP	ENST00000522917.1	37	c.1184G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044667	0.75732	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.92647	-3.08;-3.08	5.53	5.53	0.82687	C2 calcium/lipid-binding domain, CaLB (1);	0.159868	0.40385	U	0.001119	D	0.96824	0.8963	M	0.88377	2.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.97237	0.9888	10	0.87932	D	0	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	395	Q2WGJ9	FR1L6_HUMAN	D	395	ENSP00000428280:G395D;ENSP00000381982:G395D	ENSP00000381982:G395D	G	+	2	0	FER1L6	125062006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.252000	0.58785	2.607000	0.88179	0.655000	0.94253	GGC		0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
CHRAC1	54108	broad.mit.edu	37	8	141525277	141525277	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:141525277G>A	ENST00000220913.5	+	3	529	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	109					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TGCTTAAAGAGGAAAAGAGGG	0.353																																						uc003yvl.3																			0				ovary(2)	2						c.(325-327)gaG>gaA		Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.							109.0	106.0	107.0					8																	141525277		2203	4300	6503	SO:0001819	synonymous_variant	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141525277G>A	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.327G>A	8.37:g.141525277G>A						CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	p.E109E	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		2	529	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		109						Silent	SNP	ENST00000220913.5	37	c.327G>A	CCDS6379.1	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969235	0.18659	.	.	ENSG00000104472	ENST00000519618	.	.	.	5.41	3.28	0.37604	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52094	-0.8621	4	.	.	.	-12.4616	7.1048	0.25358	0.2181:0.1458:0.6362:0.0	.	.	.	.	K	75	.	.	R	+	2	0	CHRAC1	141594459	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.889000	0.28282	1.269000	0.44280	-0.244000	0.11960	AGG		0.353	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444	
TOPORS	10210	broad.mit.edu	37	9	32543467	32543467	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:32543467T>C	ENST00000360538.2	-	3	1172	c.1056A>G	c.(1054-1056)atA>atG	p.I352M	TOPORS_ENST00000379858.1_Missense_Mutation_p.I287M	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	352	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAATTCATGTATAAAATGCT	0.398																																						uc003zrb.3																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1054-1056)atA>atG		Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.							59.0	61.0	60.0					9																	32543467		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543467T>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1056A>G	9.37:g.32543467T>C	ENSP00000353735:p.Ile352Met					TOPORS_uc003zrc.3_Missense_Mutation_p.I287M	p.I352M	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	2	1248	-			352			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1056A>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	6.177	0.400829	0.11696	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16196	2.36;2.37	5.93	3.47	0.39725	.	0.000000	0.56097	D	0.000022	T	0.15003	0.0362	L	0.56199	1.76	0.37862	D	0.929746	B	0.20780	0.048	B	0.14023	0.01	T	0.07966	-1.0745	10	0.54805	T	0.06	-23.2643	5.6734	0.17735	0.0:0.1517:0.1456:0.7027	.	352	Q9NS56	TOPRS_HUMAN	M	352;287	ENSP00000353735:I352M;ENSP00000369187:I287M	ENSP00000353735:I352M	I	-	3	3	TOPORS	32533467	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	0.836000	0.27545	1.067000	0.40740	-0.256000	0.11100	ATA		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
ZMYND19	116225	broad.mit.edu	37	9	140477434	140477434	+	Splice_Site	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:140477434C>T	ENST00000298585.2	-	5	767		c.e5+1			NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCACACCCACCTGCTTCTCA	0.587																																						uc004cno.1																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.e5+1		Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.							209.0	166.0	181.0					9																	140477434		2203	4300	6503	SO:0001630	splice_region_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140477434C>T	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.540+1G>A	9.37:g.140477434C>T							p.Q180_splice	NM_138462	NP_612471	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	5	762	-	all_cancers(76;0.106)		180					Q5T366	Splice_Site	SNP	ENST00000298585.2	37	c.540_splice	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932920	0.73442	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0111	0.80404	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYND19	139597255	1.000000	0.71417	0.995000	0.50966	0.762000	0.43233	7.697000	0.84279	2.371000	0.80710	0.561000	0.74099	.		0.587	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462	Intron
PORCN	64840	broad.mit.edu	37	X	48371104	48371104	+	Missense_Mutation	SNP	G	G	A	rs373691543		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48371104G>A	ENST00000326194.6	+	5	726	c.683G>A	c.(682-684)cGc>cAc	p.R228H	PORCN_ENST00000355092.3_Missense_Mutation_p.R228H|PORCN_ENST00000537758.1_Missense_Mutation_p.R228H|PORCN_ENST00000355961.4_Missense_Mutation_p.R228H|PORCN_ENST00000367574.4_Missense_Mutation_p.R157H|PORCN_ENST00000361988.3_Missense_Mutation_p.R228H|PORCN_ENST00000359882.4_Missense_Mutation_p.R228H	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	228			R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance). {ECO:0000269|PubMed:18325042}.		glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTCCTTCGCAAGTGAGCA	0.622													G|||	1	0.000264901	0.0	0.0	3775	,	,		15152	0.001		0.0	False		,,,				2504	0.0					uc010nie.1																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(682-684)cGc>cAc		Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3834		0,1,0,1631,571	64.0	58.0	60.0		683,683,683,683	4.6	1.0	X		60	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	PORCN	NM_203475.1,NM_203474.1,NM_203473.1,NM_022825.2	29,29,29,29	0,1,1,4059,2442	AA,AG,A,GG,G		0.0149,0.0261,0.0189	benign,benign,benign,benign	228/462,228/456,228/457,228/451	48371104	2,10561	2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48371104G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.683G>A	X.37:g.48371104G>A	ENSP00000322304:p.Arg228His					PORCN_uc004djr.1_Missense_Mutation_p.R228H|PORCN_uc004djs.1_Missense_Mutation_p.R228H|PORCN_uc011mlx.1_Missense_Mutation_p.R157H|PORCN_uc004dju.1_Missense_Mutation_p.R97H|PORCN_uc004djv.1_Missense_Mutation_p.R228H|PORCN_uc004djw.1_Missense_Mutation_p.R228H	p.R228H	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			5	841	+			228		R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance).			B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.683G>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292882	0.80914	2.61E-4	1.49E-4	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.44	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	L	0.57536	1.79	0.22762	N	0.998762	D;B;P;D;D	0.57571	0.98;0.433;0.717;0.98;0.98	P;B;B;P;P	0.49332	0.585;0.13;0.115;0.585;0.607	T	0.63028	-0.6728	10	0.14656	T	0.56	-12.2709	11.3201	0.49417	0.091:0.0:0.909:0.0	.	228;228;157;228;228	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	H	228;228;157;228;228;228;228	ENSP00000352946:R228H;ENSP00000446401:R228H;ENSP00000356546:R157H;ENSP00000348233:R228H;ENSP00000354978:R228H;ENSP00000322304:R228H;ENSP00000347207:R228H	ENSP00000322304:R228H	R	+	2	0	PORCN	48256048	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.974000	0.63771	1.066000	0.40716	0.436000	0.28706	CGC		0.622	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825	
PQBP1	10084	broad.mit.edu	37	X	48759746	48759746	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48759746C>T	ENST00000376563.1	+	5	729	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Missense_Mutation_p.R177C|PQBP1_ENST00000447146.2_Missense_Mutation_p.R177C|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000218224.4_Missense_Mutation_p.R177C|PQBP1_ENST00000247140.4_Intron	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	177	Arg-rich.|Intrinsically disordered.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAAGAACGGCGCCACCATCG	0.612													C|||	1	0.000264901	0.0	0.0	3775	,	,		13410	0.0		0.0	False		,,,				2504	0.001					uc004dlh.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						c.(529-531)Cgc>Tgc		Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA.							33.0	24.0	27.0					X																	48759746		2200	4298	6498	SO:0001583	missense	10084				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	g.chrX:48759746C>T	AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.529C>T	X.37:g.48759746C>T	ENSP00000365747:p.Arg177Cys					PQBP1_uc022bvv.1_Missense_Mutation_p.R169C|PQBP1_uc004dle.3_Missense_Mutation_p.R177C|PQBP1_uc004dlf.3_Missense_Mutation_p.R177C|PQBP1_uc004dlg.3_Missense_Mutation_p.R177C|PQBP1_uc004dln.3_Missense_Mutation_p.R177C|PQBP1_uc004dlk.3_Intron|PQBP1_uc004dli.3_Missense_Mutation_p.R177C|PQBP1_uc004dlj.1_Missense_Mutation_p.R177C|PQBP1_uc004dlm.3_Missense_Mutation_p.R135C|PQBP1_uc010nii.3_Missense_Mutation_p.R135C|PQBP1_uc004dll.3_Intron|PQBP1_uc022bvw.1_Non-coding_Transcript|PQBP1_uc022bvx.1_Intron|PQBP1_uc010nij.3_Missense_Mutation_p.R77C	p.R177C	NM_001032384	NP_005701	O60828	PQBP1_HUMAN			4	638	+			177			Arg-rich.		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	ENST00000376563.1	37	c.529C>T	CCDS14309.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772936	0.90108	.	.	ENSG00000102103	ENST00000376563;ENST00000447146;ENST00000218224;ENST00000396763;ENST00000443648	T;T;T;T;T	0.79141	-1.22;-1.22;-1.22;-1.22;-1.24	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	0.983;1.0;1.0;1.0;1.0	B;D;D;D;D	0.85130	0.197;0.997;0.996;0.984;0.99	D	0.84305	0.0507	10	0.52906	T	0.07	-14.1243	14.4704	0.67512	0.0:1.0:0.0:0.0	.	77;177;177;177;177	O60828-5;O60828-2;C9JQA1;O60828-3;O60828	.;.;.;.;PQBP1_HUMAN	C	177	ENSP00000365747:R177C;ENSP00000391759:R177C;ENSP00000218224:R177C;ENSP00000379985:R177C;ENSP00000414861:R177C	ENSP00000218224:R177C	R	+	1	0	PQBP1	48644690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.962000	0.49176	2.483000	0.83821	0.600000	0.82982	CGC		0.612	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1	
CHM	1121	broad.mit.edu	37	X	85156121	85156121	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:85156121A>T	ENST00000357749.2	-	10	1346	c.1317T>A	c.(1315-1317)ttT>ttA	p.F439L	MIR361_ENST00000362181.1_RNA|CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.F291L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	439					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTTCTCAGGAAAGTAACTGT	0.393																																						uc004eet.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(1315-1317)ttT>ttA		Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.							80.0	64.0	69.0					X																	85156121		2203	4299	6502	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85156121A>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1317T>A	X.37:g.85156121A>T	ENSP00000350386:p.Phe439Leu					CHM_uc011mqz.2_Missense_Mutation_p.F291L	p.F439L	NM_000390	NP_000381	P24386	RAE1_HUMAN			9	1347	-		all_lung(315;5.41e-06)	439					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1317T>A	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.822601	0.00589	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85013	-1.93;-1.93	5.41	2.92	0.33932	.	0.428787	0.27591	N	0.018689	T	0.49115	0.1538	N	0.00258	-1.755	0.24625	N	0.99366	B	0.02656	0.0	B	0.04013	0.001	T	0.53380	-0.8447	10	0.02654	T	1	-17.073	8.0506	0.30575	0.5451:0.3839:0.071:0.0	.	439	P24386	RAE1_HUMAN	L	439;291	ENSP00000350386:F439L;ENSP00000441728:F291L	ENSP00000350386:F439L	F	-	3	2	CHM	85042777	1.000000	0.71417	0.999000	0.59377	0.268000	0.26511	2.886000	0.48578	0.260000	0.21731	-0.507000	0.04495	TTT		0.393	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390	
CT83	203413	broad.mit.edu	37	X	115592953	115592953	+	Silent	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:115592953A>C	ENST00000371894.4	-	2	443	c.297T>G	c.(295-297)ctT>ctG	p.L99L		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		99						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						AACCCTTGCTAAGTAGAGTAT	0.418																																						uc004eqj.1																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(295-297)ctT>ctG		Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.							178.0	149.0	159.0					X																	115592953		2203	4300	6503	SO:0001819	synonymous_variant	203413					integral to membrane|plasma membrane		g.chrX:115592953A>C																												ENST00000371894.4:c.297T>G	X.37:g.115592953A>C							p.L99L	NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN			1	417	-			99						Silent	SNP	ENST00000371894.4	37	c.297T>G	CCDS35372.1																																																																																				0.418	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1		
ARHGEF6	9459	broad.mit.edu	37	X	135825762	135825762	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:135825762G>A	ENST00000250617.6	-	5	1848	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R61C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R61C|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R61C	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	215	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAATTTCACGGACATAATTA	0.388																																						uc004fab.3																			0		p.R215H(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(643-645)Cgt>Tgt		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							145.0	126.0	133.0					X																	135825762		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825762G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.643C>T	X.37:g.135825762G>A	ENSP00000250617:p.Arg215Cys					ARHGEF6_uc011mwd.2_Missense_Mutation_p.R61C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.R61C	p.R215C	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			4	1105	-	Acute lymphoblastic leukemia(192;0.000127)		215			SH3.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.643C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281715	0.59758	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.74	3.73	0.42828	Src homology-3 domain (4);Variant SH3 (1);	0.052346	0.64402	D	0.000001	T	0.46756	0.1409	L	0.48260	1.515	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76575	0.953;0.988	T	0.46373	-0.9196	10	0.87932	D	0	.	12.5216	0.56062	0.0:0.0:0.523:0.4769	.	61;215	B7Z3C7;Q15052	.;ARHG6_HUMAN	C	215;61;61;61;61	ENSP00000250617:R215C;ENSP00000359654:R61C;ENSP00000359656:R61C;ENSP00000439483:R61C	ENSP00000250617:R215C	R	-	1	0	ARHGEF6	135653428	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	2.330000	0.43885	1.113000	0.41760	0.600000	0.82982	CGT		0.388	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
MCF2	4168	broad.mit.edu	37	X	138668562	138668562	+	Silent	SNP	C	C	T	rs142128026	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:138668562C>T	ENST00000370576.4	-	23	2816	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	MCF2_ENST00000520602.1_Silent_p.A929A|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000519895.1_Silent_p.A945A|MCF2_ENST00000370578.4_Silent_p.A1014A|MCF2_ENST00000338585.6_Silent_p.A885A|MCF2_ENST00000414978.1_Silent_p.A929A	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	869					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTGAACTGACGCAATTGCCT	0.413													c|||	1	0.000264901	0.0008	0.0	3775	,	,		12371	0.0		0.0	False		,,,				2504	0.0					uc011mwn.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62								Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.		T	,,,,,	0,3835		0,0,0,1632,571	170.0	136.0	147.0		2787,2835,,,2655,2607	-7.0	0.0	X	dbSNP_134	147	2,6726		0,1,1,2427,1871	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous	MCF2	NM_001099855.1,NM_001171876.1,NM_001171877.1,NM_001171878.1,NM_001171879.1,NM_005369.4	,,,,,	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	,,,,,	929/986,945/1002,,,885/942,869/926	138668562	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138668562C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2607G>A	X.37:g.138668562C>T						MCF2_uc004fav.3_Silent_p.A885A|MCF2_uc004fau.3_Silent_p.A869A|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Silent_p.A846A|MCF2_uc011mwo.1_Silent_p.A945A|MCF2_uc004faw.2_Silent_p.A929A		NM_001171878	NP_001165349	P10911	MCF2_HUMAN					-	Acute lymphoblastic leukemia(192;0.000127)							B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37		CCDS14667.1	.	.	.	.	.	.	.	.	.	.	c	3.388	-0.124852	0.06795	0.0	2.97E-4	ENSG00000101977	ENST00000437564	.	.	.	5.15	-6.99	0.01605	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26710	-1.0095	4	.	.	.	.	8.2212	0.31543	0.0:0.3486:0.178:0.4734	.	.	.	.	I	373	.	.	V	-	1	0	MCF2	138496228	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.576000	0.00425	-2.307000	0.00653	-0.822000	0.03109	GTC		0.413	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
IDS	3423	broad.mit.edu	37	X	148564457	148564457	+	Silent	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:148564457G>T	ENST00000340855.6	-	9	1682	c.1473C>A	c.(1471-1473)tcC>tcA	p.S491S	IDS_ENST00000541269.1_Silent_p.S280S|IDS_ENST00000537071.1_Silent_p.S94S|IDS_ENST00000422081.2_Silent_p.S280S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	491			S -> F (in MPS2; mild form). {ECO:0000269|PubMed:10220152}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGTGCGTATGGAATAGCCCA	0.433																																						uc011mxe.2																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(1471-1473)tcC>tcA		Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.							124.0	117.0	119.0					X																	148564457		2203	4300	6503	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148564457G>T	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1473C>A	X.37:g.148564457G>T						IDS_uc011mxd.2_Silent_p.S94S|IDS_uc011mxf.2_Silent_p.S401S|IDS_uc011mxg.2_Silent_p.S280S|IDS_uc010nsu.2_Silent_p.S101S|IDS_uc004fcw.4_Silent_p.S280S	p.S491S	NM_000202	NP_000193	P22304	IDS_HUMAN			8	1690	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		491		S -> F (in MPS2; mild form).			D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.1473C>A	CCDS14685.1																																																																																				0.433	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3		
DKC1	1736	broad.mit.edu	37	X	154001511	154001511	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:154001511G>C	ENST00000369550.5	+	11	1352	c.1142G>C	c.(1141-1143)gGt>gCt	p.G381A	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	381					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAAGTGGGGTTTAGGTCCA	0.408									Congenital Dyskeratosis																													uc004fmm.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1141-1143)gGt>gCt		Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.							100.0	80.0	86.0					X																	154001511		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154001511G>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1142G>C	X.37:g.154001511G>C	ENSP00000358563:p.Gly381Ala					DKC1_uc010nvf.3_Missense_Mutation_p.G381A|SNORA56_uc004fmo.3_5'Flank	p.G381A	NM_001363	NP_001354	O60832	DKC1_HUMAN			10	1352	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		381					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1142G>C	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.414695	0.83449	.	.	ENSG00000130826	ENST00000369550	D	0.99859	-7.23	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.89968	3.075	0.80722	D	1	D;D	0.71674	0.988;0.998	P;P	0.56916	0.712;0.809	D	0.96784	0.9577	10	0.87932	D	0	-20.9649	16.9475	0.86233	0.0:0.0:1.0:0.0	.	381;381	A8MUT5;O60832	.;DKC1_HUMAN	A	381	ENSP00000358563:G381A	ENSP00000358563:G381A	G	+	2	0	DKC1	153654705	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	9.364000	0.97136	2.315000	0.78130	0.597000	0.82753	GGT		0.408	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
