#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CSMD3	114788	broad.mit.edu	37	8	113301656	113301656	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:113301656C>T	ENST00000297405.5	-	57	9330	c.9086G>A	c.(9085-9087)gGc>gAc	p.G3029D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3029	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATGACTGGCCTAAAAGGGA	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9085-9087)gGc>gAc		CUB and Sushi multiple domains 3							127.0	116.0	120.0					8																	113301656		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301656C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9086G>A	8.37:g.113301656C>T	ENSP00000297405:p.Gly3029Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D	p.G3029D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			57	9330	-			3029			Sushi 21.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9086G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834390	0.91036	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	6.17	5.3	0.74995	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.90041	0.6890	H	0.97707	4.06	0.58432	D	0.999999	D;D;B	0.89917	1.0;1.0;0.285	D;D;B	0.97110	0.999;1.0;0.091	D	0.93521	0.6861	10	0.62326	D	0.03	.	17.1598	0.86801	0.1273:0.8727:0.0:0.0	.	2860;3029;2989	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	2989;3029;2299;2860;2959	ENSP00000345799:G2989D;ENSP00000297405:G3029D;ENSP00000341558:G2299D;ENSP00000412263:G2860D;ENSP00000343124:G2959D	ENSP00000297405:G3029D	G	-	2	0	CSMD3	113370832	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.792000	0.85828	1.623000	0.50342	0.655000	0.94253	GGC		0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		66	113	0	0	0	1	0	66	113				
HSPG2	3339	broad.mit.edu	37	1	22176570	22176570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:22176570C>T	ENST00000374695.3	-	57	7489	c.7410G>A	c.(7408-7410)tgG>tgA	p.W2470*	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2470	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.W2470*(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGCGCTTGTGCCACGTGACCT	0.652																																						ENST00000374695.3																			1	Substitution - Nonsense(1)	p.W2470*(1)	kidney(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7408-7410)tgG>tgA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						87.0	99.0	95.0					1																	22176570		2203	4300	6503	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176570C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7410G>A	1.37:g.22176570C>T	ENSP00000363827:p.Trp2470*					HSPG2_ENST00000430507.1_3'UTR	p.W2470*	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	57	7489	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2470			Ig-like C2-type 10.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.7410G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	48	14.639044	0.99804	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.29	5.29	0.74685	.	0.000000	0.36268	N	0.002698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4518	0.83993	0.0:1.0:0.0:0.0	.	.	.	.	X	2470	.	ENSP00000363827:W2470X	W	-	3	0	HSPG2	22049157	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	3.505000	0.53356	2.478000	0.83669	0.561000	0.74099	TGG		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		5	366	0	0	0	1	0	5	366				
ACAN	176	broad.mit.edu	37	15	89417087	89417087	+	Missense_Mutation	SNP	C	C	T	rs375041472		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:89417087C>T	ENST00000561243.1	+	16	7348	c.7348C>T	c.(7348-7350)Ccc>Tcc	p.P2450S	ACAN_ENST00000439576.2_Missense_Mutation_p.P2450S|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S			P16112	PGCA_HUMAN	aggrecan	2335					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCGGAGAGCCCCCTGTGGT	0.592																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(7348-7350)Ccc>Tcc		aggrecan		C	SER/PRO,	0,3814		0,0,1907	36.0	39.0	38.0		7348,	5.3	0.9	15		38	2,8246		0,2,4122	no	missense,intron	ACAN	NM_013227.3,NM_001135.3	74,	0,2,6029	TT,TC,CC		0.0242,0.0,0.0166	probably-damaging,	2450/2531,	89417087	2,12060	1907	4124	6031	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417087C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7348C>T	15.37:g.89417087C>T	ENSP00000453342:p.Pro2450Ser					ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.P2450S|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S	p.P2450S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7722	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2450					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.7348C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368593	0.61624	0.0	2.42E-4	ENSG00000157766	ENST00000439576;ENST00000268134	D	0.84516	-1.86	5.31	5.31	0.75309	.	0.000000	0.32343	N	0.006224	D	0.94915	0.8356	H	0.95437	3.67	0.48395	D	0.999642	D	0.89917	1.0	D	0.83275	0.996	D	0.96289	0.9212	10	0.87932	D	0	-16.8016	17.9774	0.89131	0.0:1.0:0.0:0.0	.	2450	E7EX88	.	S	2450;2336	ENSP00000387356:P2450S	ENSP00000268134:P2336S	P	+	1	0	ACAN	87218091	1.000000	0.71417	0.939000	0.37840	0.007000	0.05969	7.716000	0.84723	2.480000	0.83734	0.650000	0.86243	CCC		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		29	52	0	0	0	1	0	29	52				
ZGRF1	55345	broad.mit.edu	37	4	113540265	113540265	+	Silent	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:113540265T>C	ENST00000505019.1	-	6	1058	c.933A>G	c.(931-933)ttA>ttG	p.L311L	C4orf21_ENST00000445203.2_Silent_p.L280L|C4orf21_ENST00000309071.5_Silent_p.L311L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		311						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCTGGTAGTATAAATTTTCTG	0.368																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(931-933)ttA>ttG		chromosome 4 open reading frame 21							88.0	92.0	90.0					4																	113540265		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113540265T>C																												ENST00000505019.1:c.933A>G	4.37:g.113540265T>C						C4orf21_ENST00000309071.5_Silent_p.L311L|C4orf21_ENST00000445203.2_Silent_p.L280L	p.L311L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1058	-		Ovarian(17;0.156)	311					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.933A>G																																																																																					0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			7	297	0	0	0	1	0	7	297				
MT-ND6	4541	broad.mit.edu	37	M	14410	14410	+	Silent	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrM:14410G>A	ENST00000361681.2	-	1	263	c.264C>T	c.(262-264)gtC>gtT	p.V88V	MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	88					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ACACTCACCAAGACCTCAACC	0.453																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(262-264)gtC>gtT		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001819	synonymous_variant	4541							g.chrM:14410G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.264C>T	M.37:g.14410G>A							p.V88V							1	263	-								Q34774|Q8HG30	Silent	SNP	ENST00000361681.2	37	c.264C>T																																																																																					0.453	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		3	16	0	0	0	1	0	3	16				
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	rs587782664		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGTTACACATGTAGTTGT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM011014	TP53	M		c.(709-711)atG>atA	Other conserved DNA damage response genes	tumor protein p53							130.0	102.0	112.0					17																	7577570		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577570C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.711G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		96	27	0	0	0	1	0	96	27				
TENM3	55714	broad.mit.edu	37	4	183694776	183694776	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:183694776G>T	ENST00000511685.1	+	23	5167	c.5044G>T	c.(5044-5046)Gat>Tat	p.D1682Y	TENM3_ENST00000406950.2_Missense_Mutation_p.D1682Y|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1682					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCCTCGATCGATTCTTTCTA	0.463																																						ENST00000511685.1																			0											c.(5044-5046)Gat>Tat		teneurin transmembrane protein 3							199.0	193.0	195.0					4																	183694776		2012	4183	6195	SO:0001583	missense	55714							g.chr4:183694776G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5044G>T	4.37:g.183694776G>T	ENSP00000424226:p.Asp1682Tyr					TENM3_ENST00000406950.2_Missense_Mutation_p.D1682Y|RP11-18D7.2_ENST00000513255.1_RNA	p.D1682Y							23	5167	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5044G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162629	0.57368	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86769	-2.17;-2.17	5.11	5.11	0.69529	.	.	.	.	.	D	0.88295	0.6398	L	0.43152	1.355	0.58432	D	0.999997	D	0.60575	0.988	P	0.52031	0.688	D	0.88831	0.3305	9	0.54805	T	0.06	.	18.7361	0.91755	0.0:0.0:1.0:0.0	.	1682	Q9P273	TEN3_HUMAN	Y	1682	ENSP00000424226:D1682Y;ENSP00000385276:D1682Y	ENSP00000385276:D1682Y	D	+	1	0	ODZ3	183931770	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	5.742000	0.68646	2.657000	0.90304	0.655000	0.94253	GAT		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	239	1	0	0.00136819	1	0.0013986	12	239				
RELN	5649	broad.mit.edu	37	7	103322641	103322641	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:103322641G>A	ENST00000428762.1	-	11	1370	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	RELN_ENST00000343529.5_Missense_Mutation_p.A404V|RELN_ENST00000424685.2_Missense_Mutation_p.A404V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	404					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTGGTGGTGGCAAAATTGAA	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1210-1212)gCc>gTc		reelin							156.0	145.0	148.0					7																	103322641		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322641G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1211C>T	7.37:g.103322641G>A	ENSP00000392423:p.Ala404Val					RELN_ENST00000343529.5_Missense_Mutation_p.A404V|RELN_ENST00000428762.1_Missense_Mutation_p.A404V	p.A404V			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1370	-			404					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1211C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754865	0.89843	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23950	1.89;1.88;1.89	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.19112	0.55	0.58432	D	0.999998	P;D	0.63880	0.884;0.993	B;D	0.68192	0.256;0.956	T	0.07290	-1.0780	10	0.36615	T	0.2	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	404;404	P78509-2;P78509	.;RELN_HUMAN	V	404	ENSP00000392423:A404V;ENSP00000345694:A404V;ENSP00000388446:A404V	ENSP00000345694:A404V	A	-	2	0	RELN	103109877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.596000	0.90844	2.861000	0.98227	0.655000	0.94253	GCC		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	187	0	0	0	1	0	4	187				
SORD	6652	broad.mit.edu	37	15	45357562	45357562	+	Silent	SNP	A	A	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:45357562A>G	ENST00000267814.9	+	5	699	c.519A>G	c.(517-519)ggA>ggG	p.G173G	SORD_ENST00000558580.1_Silent_p.G152G	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	173					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TTACCCTGGGACACAAGGTCC	0.562																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(517-519)ggA>ggG		sorbitol dehydrogenase	NADH(DB00157)						65.0	61.0	63.0					15																	45357562		2198	4295	6493	SO:0001819	synonymous_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45357562A>G		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.519A>G	15.37:g.45357562A>G						SORD_ENST00000558580.1_Silent_p.G152G	p.G173G	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	5	699	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	173					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Silent	SNP	ENST00000267814.9	37	c.519A>G	CCDS10116.1																																																																																				0.562	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			49	113	0	0	0	1	0	49	113				
MUC16	94025	broad.mit.edu	37	19	9073155	9073155	+	Missense_Mutation	SNP	G	G	A	rs371360570		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:9073155G>A	ENST00000397910.4	-	3	14494	c.14291C>T	c.(14290-14292)cCg>cTg	p.P4764L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4766	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P4764L(2)|p.P397L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCATTGCGGTGTGAAAGC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		22552	0.0		0.001	False		,,,				2504	0.0					ENST00000397910.4																			3	Substitution - Missense(3)	p.P4764L(2)|p.P397L(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14290-14292)cCg>cTg		mucin 16, cell surface associated			LEU/PRO	1,4183		0,1,2091	100.0	96.0	97.0		14291	-2.6	0.0	19		97	0,8424		0,0,4212	no	missense	MUC16	NM_024690.2	98	0,1,6303	AA,AG,GG		0.0,0.0239,0.0079	benign	4764/14508	9073155	1,12607	2092	4212	6304	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073155G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14291C>T	19.37:g.9073155G>A	ENSP00000381008:p.Pro4764Leu						p.P4764L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14494	-			4766			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14291C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.569	-0.534580	0.04082	2.39E-4	0.0	ENSG00000181143	ENST00000397910	T	0.14766	2.48	1.32	-2.63	0.06133	.	.	.	.	.	T	0.04137	0.0115	N	0.01352	-0.895	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.35201	-0.9798	8	0.87932	D	0	.	6.2889	0.21049	0.3633:0.0:0.6367:0.0	.	4764	B5ME49	.	L	4764	ENSP00000381008:P4764L	ENSP00000381008:P4764L	P	-	2	0	MUC16	8934155	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.636000	0.02016	-0.974000	0.03550	-0.778000	0.03378	CCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		69	106	0	0	0	1	0	69	106				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			62	86	0	0	0	1	0	62	86				
TRAF3	7187	broad.mit.edu	37	14	103371628	103371628	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:103371628G>A	ENST00000560371.1	+	11	1431	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	TRAF3_ENST00000539721.1_Missense_Mutation_p.R322H|TRAF3_ENST00000347662.4_Missense_Mutation_p.R380H|TRAF3_ENST00000392745.2_Missense_Mutation_p.R405H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R380H	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	405				R -> G (in Ref. 4; AAA56753). {ECO:0000305}.	apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		ATGGACCTGCGCTTCCAGGTC	0.617																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1213-1215)cGc>cAc		TNF receptor-associated factor 3							73.0	71.0	71.0					14																	103371628		2203	4300	6503	SO:0001583	missense	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103371628G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1214G>A	14.37:g.103371628G>A	ENSP00000454207:p.Arg405His					TRAF3_ENST00000347662.4_Missense_Mutation_p.R380H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R380H|TRAF3_ENST00000539721.1_Missense_Mutation_p.R322H|TRAF3_ENST00000392745.2_Missense_Mutation_p.R405H	p.R405H	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1431	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	405	R -> G (in Ref. 4; AAA56753).				B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.1214G>A	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456223	0.63401	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.79247	-1.25;-1.25;0.71	5.45	4.56	0.56223	TRAF-type (1);	0.164918	0.52532	D	0.000065	D	0.87826	0.6275	M	0.80183	2.485	0.49213	D	0.999769	D;D;D	0.89917	1.0;0.993;1.0	D;B;D	0.80764	0.994;0.398;0.968	D	0.89414	0.3705	10	0.87932	D	0	-32.4883	14.1781	0.65557	0.0717:0.0:0.9283:0.0	.	322;380;405	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	H	405;380;405;322	ENSP00000376500:R405H;ENSP00000328003:R380H;ENSP00000445998:R322H	ENSP00000328003:R380H	R	+	2	0	TRAF3	102441381	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	6.419000	0.73345	1.310000	0.45006	-0.136000	0.14681	CGC		0.617	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		4	140	0	0	0	1	0	4	140				
NUTM2G	441457	broad.mit.edu	37	9	99694200	99694200	+	Silent	SNP	C	C	T	rs557391138		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:99694200C>T	ENST00000372322.3	+	2	234	c.213C>T	c.(211-213)cgC>cgT	p.R71R	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Silent_p.R71R	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	71																	AGGATGGCCGCGGCCCAAGTG	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		14969	0.0		0.001	False		,,,				2504	0.0					ENST00000354649.3																			0											c.(211-213)cgC>cgT		NUT family member 2G							21.0	26.0	24.0					9																	99694200		1857	4089	5946	SO:0001819	synonymous_variant	441457							g.chr9:99694200C>T		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.213C>T	9.37:g.99694200C>T						HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Silent_p.R71R	p.R71R	NM_001045477.2	NP_001038942.1					2	928	+								A6NNI5|Q5VZR3	Silent	SNP	ENST00000372322.3	37	c.213C>T	CCDS55329.1																																																																																				0.642	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		25	49	0	0	0	1	0	25	49				
PDCL	5082	broad.mit.edu	37	9	125582829	125582829	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:125582829C>G	ENST00000259467.4	-	4	606	c.441G>C	c.(439-441)gaG>gaC	p.E147D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	147					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GCTGCCGCATCTCTTCCATTC	0.473																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(439-441)gaG>gaC		phosducin-like							85.0	84.0	84.0					9																	125582829		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125582829C>G	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.441G>C	9.37:g.125582829C>G	ENSP00000259467:p.Glu147Asp						p.E147D	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			4	606	-			147					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.441G>C	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816117	0.70912	.	.	ENSG00000136940	ENST00000259467	T	0.21031	2.03	5.58	4.68	0.58851	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.047188	0.85682	D	0.000000	T	0.29850	0.0746	L	0.46885	1.475	0.58432	D	0.999996	P	0.51147	0.942	P	0.52957	0.714	T	0.02214	-1.1194	10	0.56958	D	0.05	-32.1923	11.7986	0.52114	0.0:0.8536:0.0:0.1464	.	147	Q13371	PHLP_HUMAN	D	147	ENSP00000259467:E147D	ENSP00000259467:E147D	E	-	3	2	PDCL	124622650	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.464000	0.45067	1.369000	0.46134	-0.150000	0.13652	GAG		0.473	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		7	202	0	0	0	1	0	7	202				
ATRX	546	broad.mit.edu	37	X	76813106	76813106	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrX:76813106T>C	ENST00000373344.5	-	30	6729	c.6515A>G	c.(6514-6516)gAa>gGa	p.E2172G	ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2172	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATCTTATCTTCCATGGTTCC	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6514-6516)gAa>gGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						114.0	102.0	106.0					X																	76813106		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813106T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6515A>G	X.37:g.76813106T>C	ENSP00000362441:p.Glu2172Gly					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G	p.E2172G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6729	-			2172			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6515A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352162	0.61183	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95885	-3.84;-3.84	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99605	1.0979	10	0.87932	D	0	-15.3171	14.7231	0.69323	0.0:0.0:0.0:1.0	.	2134;2172	P46100-4;P46100	.;ATRX_HUMAN	G	2172;2134	ENSP00000362441:E2172G;ENSP00000378967:E2134G	ENSP00000362441:E2172G	E	-	2	0	ATRX	76699762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.694000	0.84235	1.858000	0.53909	0.486000	0.48141	GAA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		90	36	0	0	0	1	0	90	36				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		6	161	1	0	0.00198382	1	0.00198382	6	161				
SPERT	220082	broad.mit.edu	37	13	46287414	46287414	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr13:46287414C>T	ENST00000310521.1	+	3	334	c.254C>T	c.(253-255)gCg>gTg	p.A85V	SPERT_ENST00000378966.3_Missense_Mutation_p.A49V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	85						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCAGGATGGCGAGCCAGCAC	0.672																																						ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(145-147)gCg>gTg		spermatid associated							42.0	43.0	43.0					13																	46287414		2203	4299	6502	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287414C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.254C>T	13.37:g.46287414C>T	ENSP00000309189:p.Ala85Val					SPERT_ENST00000310521.1_Missense_Mutation_p.A85V	p.A49V			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	562	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	85					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.146C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	0.514	-0.865301	0.02590	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.41758	0.99;0.99	5.1	-8.14	0.01069	.	1.653960	0.03500	N	0.217967	T	0.26412	0.0645	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.06405	0.002;0.002	T	0.13229	-1.0517	10	0.25751	T	0.34	.	11.8655	0.52490	0.0:0.6165:0.1199:0.2636	.	49;85	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	V	85;58;49	ENSP00000309189:A85V;ENSP00000368249:A49V	ENSP00000309189:A85V	A	+	2	0	SPERT	45185415	0.005000	0.15991	0.123000	0.21794	0.005000	0.04900	-0.676000	0.05221	-1.440000	0.01960	-1.752000	0.00675	GCG		0.672	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		47	72	0	0	0	1	0	47	72				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	154	1	0	2.0095e-06	1	2.10084e-06	5	154				
AKAP3	10566	broad.mit.edu	37	12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1477-1479)tCc>tTc		A kinase (PRKA) anchor protein 3							70.0	66.0	67.0					12																	4736590		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736590G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1478C>T	12.37:g.4736590G>A	ENSP00000440994:p.Ser493Phe					AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F	p.S493F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2002	-			493					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1478C>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201168	0.06219	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.09073	3.02;3.02	5.65	3.72	0.42706	A-kinase anchor 110kDa, C-terminal (1);	0.323582	0.27249	N	0.020222	T	0.06917	0.0176	L	0.36672	1.1	0.09310	N	1	P	0.36753	0.568	B	0.35413	0.202	T	0.25847	-1.0120	10	0.54805	T	0.06	-2.7088	7.4638	0.27310	0.0884:0.1674:0.7442:0.0	.	493	O75969	AKAP3_HUMAN	F	493	ENSP00000228850:S493F;ENSP00000440994:S493F	ENSP00000228850:S493F	S	-	2	0	AKAP3	4606851	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.441000	0.21611	1.537000	0.49254	0.655000	0.94253	TCC		0.453	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		5	77	0	0	0	1	0	5	77				
BTNL8	79908	broad.mit.edu	37	5	180335642	180335642	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr5:180335642G>A	ENST00000340184.4	+	2	312	c.106G>A	c.(106-108)Gca>Aca	p.A36T	BTNL8_ENST00000505126.1_5'Flank|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000231229.4_Missense_Mutation_p.A36T|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	36	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGGAGGACGCAGCATTCTC	0.537																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(106-108)Gca>Aca		butyrophilin-like 8							86.0	85.0	85.0					5																	180335642		2203	4300	6503	SO:0001583	missense	79908					integral to membrane		g.chr5:180335642G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.106G>A	5.37:g.180335642G>A	ENSP00000342197:p.Ala36Thr					BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.A36T	p.A36T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	340	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	36			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.106G>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516078	0.44763	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.68479	-0.33;-0.33;-0.33	2.58	0.621	0.17643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71400	0.3335	L	0.51422	1.61	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.966;0.915;0.966	T	0.58301	-0.7660	9	0.36615	T	0.2	.	6.5775	0.22575	0.2647:0.0:0.7353:0.0	.	36;36;36	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	T	36	ENSP00000231229:A36T;ENSP00000342197:A36T;ENSP00000424585:A36T	ENSP00000231229:A36T	A	+	1	0	BTNL8	180268248	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.458000	0.21892	0.002000	0.14630	0.436000	0.28706	GCA		0.537	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		27	55	0	0	0	1	0	27	55				
RHO	6010	broad.mit.edu	37	3	129249862	129249862	+	Missense_Mutation	SNP	G	G	A	rs377687329		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr3:129249862G>A	ENST00000296271.3	+	2	599	c.505G>A	c.(505-507)Gca>Aca	p.A169T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	169					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GGCCTGCGCCGCACCCCCACT	0.617																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			0				breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(505-507)Gca>Aca		rhodopsin	Halothane(DB01159)	G	THR/ALA	0,4406		0,0,2203	82.0	70.0	74.0		505	2.2	0.0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHO	NM_000539.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	169/349	129249862	1,13005	2203	4300	6503	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129249862G>A	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.505G>A	3.37:g.129249862G>A	ENSP00000296271:p.Ala169Thr						p.A169T	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	2	599	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	169					Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.505G>A	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671130	0.29693	0.0	1.16E-4	ENSG00000163914	ENST00000296271	T	0.72394	-0.65	5.26	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.413866	0.27936	N	0.017243	T	0.53286	0.1787	L	0.37897	1.145	0.09310	N	1	B	0.31435	0.323	B	0.21708	0.036	T	0.53683	-0.8404	10	0.72032	D	0.01	.	7.2514	0.26152	0.0723:0.1243:0.6752:0.1282	.	169	P08100	OPSD_HUMAN	T	169	ENSP00000296271:A169T	ENSP00000296271:A169T	A	+	1	0	RHO	130732552	0.650000	0.27331	0.007000	0.13788	0.042000	0.13812	3.859000	0.55987	2.448000	0.82819	0.462000	0.41574	GCA		0.617	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		4	134	0	0	0	1	0	4	134				
ADAM2	2515	broad.mit.edu	37	8	39666968	39666968	+	Silent	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:39666968T>C	ENST00000265708.4	-	7	634	c.531A>G	c.(529-531)gcA>gcG	p.A177A	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.A177A|ADAM2_ENST00000347580.4_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	177					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTATATACTTTGCAAAATCTT	0.259																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(529-531)gcA>gcG		ADAM metallopeptidase domain 2							41.0	43.0	42.0					8																	39666968		2181	4249	6430	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39666968T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.531A>G	8.37:g.39666968T>C						ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.A177A|ADAM2_ENST00000347580.4_Intron	p.A177A	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	7	634	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	177					P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.531A>G	CCDS34884.1																																																																																				0.259	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		4	111	0	0	0	1	0	4	111				
TRIP11	9321	broad.mit.edu	37	14	92472597	92472597	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:92472597G>A	ENST00000267622.4	-	11	2096	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	575					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGGTTAAATGTAAATCATTT	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1723-1725)Cat>Tat		thyroid hormone receptor interactor 11							108.0	107.0	107.0					14																	92472597		2202	4297	6499	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472597G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1723C>T	14.37:g.92472597G>A	ENSP00000267622:p.His575Tyr						p.H575Y	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2096	-			575					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1723C>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.119|7.119	0.577569|0.577569	0.13686|0.13686	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04502|.	3.61|.	6.16|6.16	0.752|0.752	0.18398|0.18398	.|.	0.575191|.	0.20415|.	N|.	0.092789|.	T|T	0.48589|0.48589	0.1508|0.1508	M|M	0.61703|0.61703	1.905|1.905	0.29047|0.29047	N|N	0.884737|0.884737	B;B|.	0.19200|.	0.007;0.034|.	B;B|.	0.16289|.	0.007;0.015|.	T|T	0.46721|0.46721	-0.9171|-0.9171	10|5	0.66056|.	D|.	0.02|.	.|.	7.5849|7.5849	0.27987|0.27987	0.1861:0.0:0.5771:0.2369|0.1861:0.0:0.5771:0.2369	.|.	311;575|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Y|I	575;311|290	ENSP00000267622:H575Y|.	ENSP00000267622:H575Y|.	H|T	-|-	1|2	0|0	TRIP11|TRIP11	91542350|91542350	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.007000|0.007000	0.05969|0.05969	3.073000|3.073000	0.50057|0.50057	0.185000|0.185000	0.20105|0.20105	-0.761000|-0.761000	0.03458|0.03458	CAT|ACA		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			71	129	0	0	0	1	0	71	129				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E268E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E	p.E268E			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	29	0	0	0	1	0	5	29				
KNTC1	9735	broad.mit.edu	37	12	123071291	123071291	+	Silent	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:123071291C>T	ENST00000333479.7	+	38	3894	c.3717C>T	c.(3715-3717)tgC>tgT	p.C1239C	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1239					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCCATACTGCTCCCTTAATG	0.294																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3715-3717)tgC>tgT		kinetochore associated 1							113.0	97.0	102.0					12																	123071291		1811	4068	5879	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123071291C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3717C>T	12.37:g.123071291C>T						KNTC1_ENST00000450485.2_Intron	p.C1239C	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	38	3894	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1239					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.3717C>T	CCDS45002.1																																																																																				0.294	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			4	93	0	0	0	1	0	4	93				
KATNA1	11104	broad.mit.edu	37	6	149922761	149922761	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr6:149922761G>C	ENST00000335647.5	-	6	901	c.857C>G	c.(856-858)tCt>tGt	p.S286C	KATNA1_ENST00000367411.2_Missense_Mutation_p.S286C|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAGCTTCTCAGATTCTCCTCT	0.408																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(856-858)tCt>tGt		katanin p60 (ATPase containing) subunit A 1							114.0	107.0	109.0					6																	149922761		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149922761G>C	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.857C>G	6.37:g.149922761G>C	ENSP00000335106:p.Ser286Cys					KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000335647.5_Missense_Mutation_p.S286C	p.S286C	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	7	1115	-		Ovarian(120;0.0164)	286						Missense_Mutation	SNP	ENST00000335647.5	37	c.857C>G	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074226	0.94000	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	D;D;D	0.94280	-3.39;-3.39;-3.39	5.86	5.86	0.93980	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.98922	1.0784	9	.	.	.	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	286;210;286	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	C	286;210;286	ENSP00000335106:S286C;ENSP00000335180:S210C;ENSP00000356381:S286C	.	S	-	2	0	KATNA1	149964454	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.835000	0.99442	2.777000	0.95525	0.591000	0.81541	TCT		0.408	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		6	203	0	0	0	1	0	6	203				
SIGLEC9	27180	broad.mit.edu	37	19	51628302	51628302	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:51628302C>T	ENST00000250360.3	+	1	138	c.71C>T	c.(70-72)aCg>aTg	p.T24M	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.T24M	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	24	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AAACTGCTGACGATGCAGAGT	0.617																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(70-72)aCg>aTg		sialic acid binding Ig-like lectin 9							152.0	102.0	119.0					19																	51628302		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628302C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.71C>T	19.37:g.51628302C>T	ENSP00000250360:p.Thr24Met					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T24M	p.T24M	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	138	+		all_neural(266;0.0529)	24			Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.71C>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	6.889	0.533518	0.13188	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.49139	0.79;0.79	2.88	-0.689	0.11313	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.745650	0.03583	N	0.230407	T	0.33498	0.0865	L	0.40543	1.245	0.09310	N	1	P	0.36162	0.54	B	0.27380	0.079	T	0.16335	-1.0406	10	0.59425	D	0.04	.	3.1405	0.06453	0.484:0.2325:0.2835:0.0	.	24	Q9Y336	SIGL9_HUMAN	M	24	ENSP00000413861:T24M;ENSP00000250360:T24M	ENSP00000250360:T24M	T	+	2	0	SIGLEC9	56320114	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.984000	0.03755	-0.569000	0.06030	-0.777000	0.03380	ACG		0.617	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		34	60	0	0	0	1	0	34	60				
KIAA1755	85449	broad.mit.edu	37	20	36874469	36874469	+	Silent	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr20:36874469G>A	ENST00000279024.4	-	2	334	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGTGGCCTCGAAAGGAGGAT	0.602																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(61-63)ttC>ttT		KIAA1755							53.0	47.0	49.0					20																	36874469		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36874469G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.63C>T	20.37:g.36874469G>A							p.F21F	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			2	334	-		Myeloproliferative disorder(115;0.00874)	21					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.63C>T	CCDS33467.1																																																																																				0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		18	40	0	0	0	1	0	18	40				
TNRC18	84629	broad.mit.edu	37	7	5360235	5360235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:5360235G>C	ENST00000430969.1	-	23	6912	c.6564C>G	c.(6562-6564)taC>taG	p.Y2188*	TNRC18_ENST00000399537.4_Nonsense_Mutation_p.Y2188*	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2188							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCACGCGGTATCTGTAGG	0.672																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(6562-6564)taC>taG		trinucleotide repeat containing 18							31.0	31.0	31.0					7																	5360235		1568	3581	5149	SO:0001587	stop_gained	84629						DNA binding	g.chr7:5360235G>C	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6564C>G	7.37:g.5360235G>C	ENSP00000395538:p.Tyr2188*					TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Y2188*	p.Y2188*			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	23	6912	-		Ovarian(82;0.142)	2188					A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP	ENST00000430969.1	37	c.6564C>G	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.48|15.48	2.845415|2.845415	0.51164|0.51164	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000328270|ENST00000399537;ENST00000430969	.|.	.|.	.|.	4.4|4.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|.	0.16727|.	0.0402|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34527|.	-0.9825|.	3|.	.|0.02654	.|T	.|1	.|.	7.279|7.279	0.26300|0.26300	0.2797:0.0:0.7203:0.0|0.2797:0.0:0.7203:0.0	.|.	.|.	.|.	.|.	A|X	2|2188	.|.	.|ENSP00000382452:Y2188X	P|Y	-|-	1|3	0|2	TNRC18|TNRC18	5326761|5326761	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.013000|0.013000	0.08279|0.08279	3.229000|3.229000	0.51278|0.51278	0.312000|0.312000	0.23038|0.23038	-0.251000|-0.251000	0.11542|0.11542	CCG|TAC		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	50	0	0	0	1	0	3	50				
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C	rs530929455	byFrequency	TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:35930362T>C	ENST00000435235.1	+	10	1230	c.798T>C	c.(796-798)taT>taC	p.Y266Y	SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000494488.2_Silent_p.Y305Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Silent_p.Y320Y			Q16181	SEPT7_HUMAN	septin 7	319	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323													T|||	6	0.00119808	0.0	0.0	5008	,	,		16353	0.005		0.0	False		,,,				2504	0.001					ENST00000494488.2																			3	Substitution - coding silent(3)	p.Y320Y(3)	kidney(2)|prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(913-915)taT>taC		septin 7							47.0	41.0	43.0					7																	35930362		1836	4080	5916	SO:0001819	synonymous_variant	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35930362T>C	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.798T>C	7.37:g.35930362T>C						SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y	p.Y305Y			Q16181	SEPT7_HUMAN			10	915	+			319					Q52M76|Q6NX50	Silent	SNP	ENST00000435235.1	37	c.915T>C																																																																																					0.323	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		4	60	0	0	0	1	0	4	60				
NKD1	85407	broad.mit.edu	37	16	50666305	50666305	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr16:50666305C>G	ENST00000268459.3	+	9	1033	c.809C>G	c.(808-810)tCc>tGc	p.S270C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	270					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AACTACACGTCCCAATTTGGG	0.597																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(808-810)tCc>tGc		naked cuticle homolog 1 (Drosophila)							92.0	69.0	77.0					16																	50666305		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666305C>G	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.809C>G	16.37:g.50666305C>G	ENSP00000268459:p.Ser270Cys						p.S270C	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	9	1033	+		all_cancers(37;0.229)	270					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.809C>G	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783120	0.90282	.	.	ENSG00000140807	ENST00000268459	T	0.78003	-1.14	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90850	0.4730	10	0.87932	D	0	-23.0023	18.6084	0.91275	0.0:1.0:0.0:0.0	.	270	Q969G9	NKD1_HUMAN	C	270	ENSP00000268459:S270C	ENSP00000268459:S270C	S	+	2	0	NKD1	49223806	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.578000	0.82498	2.403000	0.81681	0.563000	0.77884	TCC		0.597	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			36	44	0	0	0	1	0	36	44				
E2F2	1870	broad.mit.edu	37	1	23848548	23848548	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:23848548G>A	ENST00000361729.2	-	3	785	c.359C>T	c.(358-360)aCc>aTc	p.T120I	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	120					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T120I(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGATTTGGGGGCTGAAGAAGA	0.587																																						ENST00000361729.2																			1	Substitution - Missense(1)	p.T120I(1)	skin(1)	endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13						c.e3-1		E2F transcription factor 2							29.0	31.0	30.0					1																	23848548		2203	4300	6503	SO:0001630	splice_region_variant	1870				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23848548G>A	L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.359-1C>T	1.37:g.23848548G>A							p.T120_splice	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	3	785	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	120					B2R9W1|Q7Z6H1	Splice_Site	SNP	ENST00000361729.2	37	c.358_splice	CCDS236.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857983	0.91433	.	.	ENSG00000007968	ENST00000361729	T	0.09817	2.94	5.62	5.62	0.85841	.	1.341300	0.05070	N	0.481551	T	0.40862	0.1134	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00662	-1.1621	10	0.62326	D	0.03	.	18.217	0.89889	0.0:0.0:1.0:0.0	.	120	Q14209	E2F2_HUMAN	I	120	ENSP00000355249:T120I	ENSP00000355249:T120I	T	-	2	0	E2F2	23721135	1.000000	0.71417	0.792000	0.32020	0.988000	0.76386	9.807000	0.99171	2.656000	0.90262	0.591000	0.81541	ACC		0.587	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091	Missense_Mutation	27	41	0	0	0	1	0	27	41				
CR1	1378	broad.mit.edu	37	1	207758074	207758074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:207758074G>T	ENST00000367049.4	+	33	5383	c.5383G>T	c.(5383-5385)Gaa>Taa	p.E1795*	CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1345	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATGGAAAAGAAATATCTTA	0.473																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(5383-5385)Gaa>Taa		complement component (3b/4b) receptor 1 (Knops blood group)							113.0	110.0	111.0					1																	207758074		1867	4090	5957	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207758074G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5383G>T	1.37:g.207758074G>T	ENSP00000356016:p.Glu1795*					CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345*	p.E1795*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			33	5383	+			1345			Sushi 28.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.5383G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	42	9.704508	0.99242	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	.	.	.	3.03	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.3244	0.15898	0.1637:0.0:0.8363:0.0	.	.	.	.	X	1345;1345;1345;1345;895;1795	.	ENSP00000356016:E1795X	E	+	1	0	CR1	205824697	0.000000	0.05858	0.682000	0.30024	0.964000	0.63967	0.292000	0.19011	0.798000	0.33994	0.655000	0.94253	GAA		0.473	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		83	174	1	0	5.72486e-32	1	6.12427e-32	83	174				
KRT26	353288	broad.mit.edu	37	17	38926244	38926244	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:38926244C>T	ENST00000335552.4	-	4	860	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGCATCTTTGCGGTTCTGCTC	0.512																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(811-813)cGc>cAc		keratin 26							228.0	202.0	211.0					17																	38926244		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38926244C>T	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.812G>A	17.37:g.38926244C>T	ENSP00000334798:p.Arg271His						p.R271H	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			4	860	-		Breast(137;0.00526)	271			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000335552.4	37	c.812G>A	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201191	0.58234	.	.	ENSG00000186393	ENST00000335552	D	0.90004	-2.6	5.0	5.0	0.66597	Filament (1);	0.103684	0.43747	D	0.000536	D	0.90376	0.6988	M	0.82132	2.575	0.37107	D	0.90014	B	0.31599	0.33	B	0.33890	0.172	D	0.92088	0.5678	10	0.59425	D	0.04	.	18.653	0.91437	0.0:1.0:0.0:0.0	.	271	Q7Z3Y9	K1C26_HUMAN	H	271	ENSP00000334798:R271H	ENSP00000334798:R271H	R	-	2	0	KRT26	36179770	0.245000	0.23899	0.980000	0.43619	0.699000	0.40488	0.866000	0.27954	2.485000	0.83878	0.655000	0.94253	CGC		0.512	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		5	385	0	0	0	1	0	5	385				
SMARCA2	6595	broad.mit.edu	37	9	2084102	2084102	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:2084102G>A	ENST00000382203.1	+	17	2641	c.2432G>A	c.(2431-2433)cGt>cAt	p.R811H	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	811	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGCCATGCGTCGCTCCCTT	0.403																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2431-2433)cGt>cAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							87.0	79.0	81.0					9																	2084102		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2084102G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2432G>A	9.37:g.2084102G>A	ENSP00000371638:p.Arg811His					SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H	p.R811H			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	17	2641	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	811			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2432G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288862	0.95517	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	5.6	5.6	0.85130	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.997	D	0.98871	1.0766	10	0.87932	D	0	-8.4526	19.9855	0.97347	0.0:0.0:1.0:0.0	.	412;811;811	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	H	811	ENSP00000265773:R811H;ENSP00000349788:R811H;ENSP00000371638:R811H;ENSP00000371629:R811H	ENSP00000265773:R811H	R	+	2	0	SMARCA2	2074102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.806000	0.96561	0.655000	0.94253	CGT		0.403	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		34	41	0	0	0	1	0	34	41				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	157	0	0	0	1	0	4	157				
RGPD8	727851	broad.mit.edu	37	2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	962					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTTTGGCCAAAAATCACAC	0.408																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2884-2886)ttfs		RANBP2-like and GRIP domain containing 8							80.0	72.0	74.0					2																	113147636		686	1568	2254	SO:0001589	frameshift_variant	727851							g.chr2:113147636delA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2886delT	2.37:g.113147636delA	ENSP00000306637:p.Phe962fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	p.F962fs	NM_001164463.1	NP_001157935.1					20	3077	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2886delT	CCDS46394.1																																																																																				0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		7	457						7	457	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_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.S2026_T2027insS(3)		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)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(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.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	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.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH	p.2026_2027insH	NM_018406.6	NP_060876.5	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)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	2						4	2	---	---	---	---
TPSD1	23430	broad.mit.edu	37	16	1311513	1311514	+	IGR	INS	-	-	GGCA	rs373068358|rs57292543|rs3085832	byFrequency	TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr16:1311513_1311514insGGCA	ENST00000397534.2	+	0	896				PRSS29P_ENST00000568091.1_lincRNA			Q9BZJ3	TRYD_HUMAN	tryptase delta 1							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GGTGGGAGCAGGGCAGGCAGGC	0.708														2689	0.536941	0.4463	0.5159	5008	,	,		14106	0.8403		0.3648	False		,,,				2504	0.5389					ENST00000568091.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:1311513_1311514insGGCA	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511		16.37:g.1311518_1311521dupGGCA														0	1353	-								O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	RNA	INS	ENST00000397534.2	37																																																																																						0.708	TPSD1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000250376.2			4	6						4	6	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-	rs544816257		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)gagdel	p.E100del		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783																																						ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(286-288)del		protein phosphatase, Mg2+/Mn2+ dependent, 1E				173,3033		18,137,1448						0.3	0.0			5	371,5843		38,295,2774	no	coding	PPM1E	NM_014906.3		56,432,4222	A1A1,A1R,RR		5.9704,5.3961,5.7749				544,8876				SO:0001651	inframe_deletion	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833644_56833646delGAG	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.286_288delGAG	17.37:g.56833653_56833655delGAG	ENSP00000312411:p.Glu100del						p.E100del	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	415_417	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		100			Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	In_Frame_Del	DEL	ENST00000308249.2	37	c.286_288delGAG	CCDS11613.1																																																																																				0.783	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		3	3						3	3	---	---	---	---
