#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
HSPG2	3339	broad.mit.edu	37	1	22172749	22172749	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:22172749C>T	ENST00000374695.3	-	64	8396		c.e64-1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						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)			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)	AGCCGCGGGTCTGAATAGGGG	0.647																																						ENST00000374695.3																			0				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.e64-1		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						13.0	16.0	15.0					1																	22172749		2187	4271	6458	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22172749C>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.8317-1G>A	1.37:g.22172749C>T						HSPG2_ENST00000430507.1_Splice_Site		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)	64	8396	-		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)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37		CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631697	0.29068	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2719	0.82626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22045336	1.000000	0.71417	0.566000	0.28421	0.056000	0.15407	5.674000	0.68117	2.434000	0.82447	0.561000	0.74099	.		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	7	6	0	0	0	1	0	7	6				
MYH1	4619	broad.mit.edu	37	17	10397924	10397924	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:10397924G>A	ENST00000226207.5	-	38	5627	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380). {ECO:0000305}.	muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATGTTTGCGTAGACCCTTG	0.393																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5533-5535)Cgc>Tgc		myosin, heavy chain 1, skeletal muscle, adult							231.0	209.0	216.0					17																	10397924		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397924G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5533C>T	17.37:g.10397924G>A	ENSP00000226207:p.Arg1845Cys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R1845C	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			38	5627	-			1845	R -> H (in Ref. 4; CAA27380).				Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5533C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932136	0.92389	.	.	ENSG00000109061	ENST00000226207	D	0.83335	-1.71	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.94892	0.8349	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96804	0.9591	10	0.87932	D	0	.	18.8437	0.92196	0.0:0.0:1.0:0.0	.	1845	P12882	MYH1_HUMAN	C	1845	ENSP00000226207:R1845C	ENSP00000226207:R1845C	R	-	1	0	MYH1	10338649	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.805000	0.62561	2.523000	0.85059	0.561000	0.74099	CGC		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		44	80	0	0	0	1	0	44	80				
AGAP11	119385	broad.mit.edu	37	10	88753182	88753182	+	RNA	SNP	G	G	A	rs146841657	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:88753182G>A	ENST00000444431.1	+	0	128				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CACTAGAGCCGCCACCAATAG	0.408													g|||	3	0.000599042	0.0	0.0	5008	,	,		17278	0.003		0.0	False		,,,				2504	0.0					ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88753182G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88753182G>A						RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	128	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.408	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		48	48	0	0	0	1	0	48	48				
ACSM5	54988	broad.mit.edu	37	16	20451165	20451165	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr16:20451165A>C	ENST00000331849.4	+	13	1727	c.1580A>C	c.(1579-1581)cAt>cCt	p.H527P	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	527					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACTCCTCTCATGACCCAGAG	0.473																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1579-1581)cAt>cCt		acyl-CoA synthetase medium-chain family member 5							115.0	106.0	109.0					16																	20451165		2203	4299	6502	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20451165A>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1580A>C	16.37:g.20451165A>C	ENSP00000327916:p.His527Pro						p.H527P	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			13	1727	+			527					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1580A>C	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336239	0.41398	.	.	ENSG00000183549	ENST00000331849	T	0.47528	0.84	5.01	1.4	0.22301	.	0.584402	0.16321	N	0.219575	T	0.31544	0.0800	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.35312	0.2	T	0.28996	-1.0026	10	0.62326	D	0.03	-0.0122	8.3889	0.32516	0.7472:0.0:0.2528:0.0	.	527	Q6NUN0	ACSM5_HUMAN	P	527	ENSP00000327916:H527P	ENSP00000327916:H527P	H	+	2	0	ACSM5	20358666	0.000000	0.05858	0.009000	0.14445	0.499000	0.33736	0.539000	0.23175	0.021000	0.15133	-0.290000	0.09829	CAT		0.473	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		19	63	0	0	0	1	0	19	63				
CIC	23152	broad.mit.edu	37	19	42791722	42791722	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:42791722C>T	ENST00000575354.2	+	5	648	c.608C>T	c.(607-609)cCc>cTc	p.P203L	CIC_ENST00000160740.3_Missense_Mutation_p.P203L|CIC_ENST00000572681.2_Missense_Mutation_p.P1112L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATCCGGCGGCCCATGAATGCC	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3334-3336)cCc>cTc		capicua transcriptional repressor							65.0	68.0	67.0					19																	42791722		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791722C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.608C>T	19.37:g.42791722C>T	ENSP00000458663:p.Pro203Leu					CIC_ENST00000160740.3_Missense_Mutation_p.P203L|CIC_ENST00000575354.2_Missense_Mutation_p.P203L	p.P1112L			Q96RK0	CIC_HUMAN			6	3403	+		Prostate(69;0.00682)	203			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3335C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285758	0.59867	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88058	0.6335	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92261	0.5817	8	0.87932	D	0	-12.2603	14.5138	0.67807	0.0:1.0:0.0:0.0	.	203	Q96RK0	CIC_HUMAN	L	203	.	ENSP00000160740:P203L	P	+	2	0	CIC	47483562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.351000	0.79395	2.284000	0.76573	0.555000	0.69702	CCC		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	17	0	0	0	1	0	21	17				
MYH7	4625	broad.mit.edu	37	14	23898247	23898247	+	Missense_Mutation	SNP	G	G	A	rs148808089	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr14:23898247G>A	ENST00000355349.3	-	14	1486	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCATTGATGCGCGTCACCATC	0.557													g|||	2	0.000399361	0.0	0.0	5008	,	,		21639	0.001		0.001	False		,,,				2504	0.0					ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM066924	MYH7	M	rs148808089	c.(1324-1326)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							138.0	119.0	125.0					14																	23898247		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898247G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1324C>T	14.37:g.23898247G>A	ENSP00000347507:p.Arg442Cys						p.R442C	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1486	-	all_cancers(95;2.54e-05)		442			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1324C>T	CCDS9601.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	13.69	2.311053	0.40895	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.89050	-2.46	4.18	2.11	0.27256	Myosin head, motor domain (2);	.	.	.	.	D	0.96433	0.8836	H	0.98866	4.355	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	D	0.96574	0.9425	9	0.87932	D	0	.	12.063	0.53572	0.0:0.0:0.5246:0.4754	.	442	P12883	MYH7_HUMAN	C	442	ENSP00000347507:R442C	ENSP00000347507:R442C	R	-	1	0	MYH7	22968087	0.006000	0.16342	0.688000	0.30117	0.554000	0.35429	0.117000	0.15583	0.951000	0.37770	0.455000	0.32223	CGC		0.557	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		27	61	0	0	0	1	0	27	61				
PIK3C2A	5286	broad.mit.edu	37	11	17156657	17156657	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:17156657C>T	ENST00000265970.7	-	9	1897		c.e9+1		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAAACACATACCCCTAGTTGA	0.343																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e9+1		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						137.0	143.0	141.0					11																	17156657		2200	4293	6493	SO:0001630	splice_region_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17156657C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1897+1G>A	11.37:g.17156657C>T						PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron		NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			9	1897	-								B0LPH2|B4E2G4|Q14CQ9	Splice_Site	SNP	ENST00000265970.7	37		CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511130	0.27036	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	.	.	.	5.54	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8092	0.46535	0.0:0.9105:0.0:0.0895	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3C2A	17113233	1.000000	0.71417	0.983000	0.44433	0.261000	0.26267	3.633000	0.54295	2.615000	0.88500	0.655000	0.94253	.		0.343	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	Intron	114	34	0	0	0	1	0	114	34				
FAM83B	222584	broad.mit.edu	37	6	54805863	54805863	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:54805863G>A	ENST00000306858.7	+	5	2210	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	698								p.K698N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAGAAAAGCCCAAAGAAG	0.393																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.K698N(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2092-2094)aaG>aaA		family with sequence similarity 83, member B							83.0	85.0	84.0					6																	54805863		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54805863G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2094G>A	6.37:g.54805863G>A							p.K698K	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2210	+	Lung NSC(77;0.0178)|Renal(3;0.122)		698					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.2094G>A	CCDS34479.1																																																																																				0.393	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		19	40	0	0	0	1	0	19	40				
PCDHB1	29930	broad.mit.edu	37	5	140432022	140432022	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:140432022G>C	ENST00000306549.3	+	1	1044	c.967G>C	c.(967-969)Gat>Cat	p.D323H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGCTACAGATGGTGGAGG	0.488																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(967-969)Gat>Cat									123.0	119.0	120.0					5																	140432022		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432022G>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.967G>C	5.37:g.140432022G>C	ENSP00000307234:p.Asp323His						p.D323H	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1044	+			323			Cadherin 3.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.967G>C	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442132	0.63067	.	.	ENSG00000171815	ENST00000306549	T	0.80824	-1.42	6.17	5.3	0.74995	Cadherin (5);Cadherin-like (1);	0.000000	0.48767	D	0.000166	D	0.95072	0.8404	H	0.99960	5.065	0.51767	D	0.999939	D	0.76494	0.999	D	0.66602	0.945	D	0.97933	1.0321	10	0.87932	D	0	.	16.8113	0.85720	0.0:0.0:0.8702:0.1298	.	323	Q9Y5F3	PCDB1_HUMAN	H	323	ENSP00000307234:D323H	ENSP00000307234:D323H	D	+	1	0	PCDHB1	140412206	1.000000	0.71417	0.342000	0.25602	0.983000	0.72400	9.813000	0.99286	1.623000	0.50342	0.655000	0.94253	GAT		0.488	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		4	99	0	0	0	1	0	4	99				
MAGEA8	4107	broad.mit.edu	37	X	149013734	149013734	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:149013734G>C	ENST00000542674.1	+	3	1209	c.688G>C	c.(688-690)Gtg>Ctg	p.V230L	MAGEA8_ENST00000286482.1_Missense_Mutation_p.V230L|MAGEA8_ENST00000535454.1_Missense_Mutation_p.V230L	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATTGAGTGTGATGGGGCT	0.577																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(688-690)Gtg>Ctg		melanoma antigen family A, 8							99.0	88.0	92.0					X																	149013734		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013734G>C		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.688G>C	X.37:g.149013734G>C	ENSP00000443776:p.Val230Leu					MAGEA8_ENST00000286482.1_Missense_Mutation_p.V230L|MAGEA8_ENST00000542674.1_Missense_Mutation_p.V230L	p.V230L	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1237	+	Acute lymphoblastic leukemia(192;6.56e-05)		230			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.688G>C	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	8.686	0.906204	0.17760	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04809	3.55;3.55;3.55	1.0	-1.96	0.07525	.	1.075610	0.07138	N	0.846752	T	0.05273	0.0140	L	0.60455	1.87	0.09310	N	1	B	0.25563	0.129	B	0.25987	0.065	T	0.43734	-0.9373	10	0.34782	T	0.22	.	1.5943	0.02660	0.2851:0.0:0.3841:0.3308	.	230	P43361	MAGA8_HUMAN	L	230	ENSP00000438293:V230L;ENSP00000443776:V230L;ENSP00000286482:V230L	ENSP00000286482:V230L	V	+	1	0	MAGEA8	148774392	0.001000	0.12720	0.000000	0.03702	0.227000	0.25037	0.083000	0.14871	-0.821000	0.04312	0.190000	0.17370	GTG		0.577	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		4	93	0	0	0	1	0	4	93				
CCND1	595	broad.mit.edu	37	11	69465895	69465895	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:69465895C>T	ENST00000227507.2	+	5	960	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	245					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GGACTGCCTCCGGGCCTGCCA	0.667			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(733-735)Cgg>Tgg		cyclin D1	Arsenic trioxide(DB01169)						25.0	23.0	24.0					11																	69465895		2197	4293	6490	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69465895C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.733C>T	11.37:g.69465895C>T	ENSP00000227507:p.Arg245Trp	Multiple Myeloma(6;0.086)					p.R245W	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	960	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		245					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.733C>T	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192079	0.94923	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.24908	1.83	5.15	5.15	0.70609	Cyclin, C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.57653	-0.7774	10	0.87932	D	0	.	18.6432	0.91402	0.0:1.0:0.0:0.0	.	245	P24385	CCND1_HUMAN	W	245;111	ENSP00000227507:R245W	ENSP00000227507:R245W	R	+	1	2	CCND1	69175076	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.160000	0.58164	2.403000	0.81681	0.561000	0.74099	CGG		0.667	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		11	17	0	0	0	1	0	11	17				
DACH2	117154	broad.mit.edu	37	X	86069792	86069792	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:86069792C>G	ENST00000373125.4	+	10	1639	c.1639C>G	c.(1639-1641)Ctt>Gtt	p.L547V	DACH2_ENST00000373131.1_Missense_Mutation_p.L534V|DACH2_ENST00000508860.1_Missense_Mutation_p.L380V|DACH2_ENST00000510272.1_Missense_Mutation_p.L328V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	547					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAGCAGGCACTTAAGCAAGC	0.428																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1600-1602)Ctt>Gtt		dachshund homolog 2 (Drosophila)							59.0	50.0	53.0					X																	86069792		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86069792C>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1639C>G	X.37:g.86069792C>G	ENSP00000362217:p.Leu547Val					DACH2_ENST00000510272.1_Missense_Mutation_p.L328V|DACH2_ENST00000508860.1_Missense_Mutation_p.L380V|DACH2_ENST00000373125.4_Missense_Mutation_p.L547V|DACH2_ENST00000477378.2_Intron	p.L534V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			9	1763	+			547					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1600C>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668122	0.47677	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.89875	-2.53;-2.58	4.76	2.99	0.34606	.	0.101724	0.42682	D	0.000677	D	0.86272	0.5893	L	0.50333	1.59	0.45962	D	0.998782	P;B;B;P	0.37663	0.604;0.252;0.421;0.598	B;B;B;B	0.42282	0.382;0.273;0.183;0.25	T	0.81161	-0.1059	10	0.39692	T	0.17	.	10.3375	0.43858	0.0:0.834:0.0:0.166	.	413;547;534;547	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	547;534;547;380;328;380;212	ENSP00000362223:L534V;ENSP00000362217:L547V	ENSP00000345134:L547V	L	+	1	0	DACH2	85956448	0.998000	0.40836	0.998000	0.56505	0.976000	0.68499	3.712000	0.54875	0.290000	0.22444	0.415000	0.27848	CTT		0.428	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		7	23	0	0	0	1	0	7	23				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	49	1	0	0.00024832	1	0.000261389	4	49				
MAGEB6	158809	broad.mit.edu	37	X	26212016	26212016	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:26212016C>T	ENST00000379034.1	+	2	202	c.53C>T	c.(52-54)aCc>aTc	p.T18I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	18										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCCAAGAGACCAATGGTCAG	0.572																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(52-54)aCc>aTc		melanoma antigen family B, 6							82.0	68.0	73.0					X																	26212016		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212016C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.53C>T	X.37:g.26212016C>T	ENSP00000368320:p.Thr18Ile						p.T18I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	202	+			18					Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.53C>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650373	0.29336	.	.	ENSG00000176746	ENST00000379034	T	0.04917	3.53	2.56	-0.36	0.12568	Melanoma associated antigen, MAGE, N-terminal (1);	0.798663	0.10755	U	0.637818	T	0.06280	0.0162	L	0.50333	1.59	0.09310	N	1	P	0.43885	0.82	B	0.41088	0.347	T	0.28170	-1.0052	10	0.56958	D	0.05	.	2.2145	0.03956	0.2476:0.4346:0.0:0.3178	.	18	Q8N7X4	MAGB6_HUMAN	I	18	ENSP00000368320:T18I	ENSP00000368320:T18I	T	+	2	0	MAGEB6	26121937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.793000	0.01755	-0.224000	0.09928	-0.245000	0.11935	ACC		0.572	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		29	38	0	0	0	1	0	29	38				
LONRF3	79836	broad.mit.edu	37	X	118151572	118151572	+	Silent	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:118151572C>G	ENST00000371628.3	+	11	2230	c.2199C>G	c.(2197-2199)ccC>ccG	p.P733P	LONRF3_ENST00000422289.2_Silent_p.P477P|LONRF3_ENST00000304778.7_Silent_p.P692P|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	733	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTCAGCTCCCCTTCCTAGCAA	0.512																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2074-2076)ccC>ccG		LON peptidase N-terminal domain and ring finger 3							141.0	114.0	123.0					X																	118151572		2203	4300	6503	SO:0001819	synonymous_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118151572C>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.2199C>G	X.37:g.118151572C>G						LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.P733P|LONRF3_ENST00000422289.2_Silent_p.P477P|LONRF3_ENST00000304778.7_Silent_p.P692P	p.P692P			Q496Y0	LONF3_HUMAN			10	2239	+			733			Lon.		Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	c.2076C>G	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727983	0.15507	.	.	ENSG00000175556	ENST00000439603	.	.	.	5.56	-10.3	0.00346	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41448	-0.9508	4	.	.	.	-37.3641	2.7025	0.05153	0.2759:0.3879:0.0873:0.2489	.	.	.	.	V	499	.	.	L	+	1	0	LONRF3	118035600	0.000000	0.05858	0.630000	0.29268	0.973000	0.67179	-3.832000	0.00355	-1.803000	0.01242	-0.236000	0.12185	CTT		0.512	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		39	49	0	0	0	1	0	39	49				
SPATA17	128153	broad.mit.edu	37	1	217915374	217915374	+	Silent	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:217915374C>T	ENST00000366933.4	+	6	508	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	151						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGGCTAACCTCGAAAGGGAAG	0.438																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(451-453)ctC>ctT		spermatogenesis associated 17							147.0	135.0	139.0					1																	217915374		2203	4300	6503	SO:0001819	synonymous_variant	128153					cytoplasm	calmodulin binding	g.chr1:217915374C>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.453C>T	1.37:g.217915374C>T							p.L151L	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	6	508	+			151					A5D6N2	Silent	SNP	ENST00000366933.4	37	c.453C>T	CCDS1519.1																																																																																				0.438	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		22	39	0	0	0	1	0	22	39				
ARNT2	9915	broad.mit.edu	37	15	80767431	80767431	+	Silent	SNP	G	G	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr15:80767431G>T	ENST00000303329.4	+	5	654	c.489G>T	c.(487-489)gtG>gtT	p.V163V	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Silent_p.V152V|ARNT2_ENST00000527771.1_Silent_p.V152V	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	163	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGATTTATGTGTCTGACTCCG	0.488																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(454-456)gtG>gtT		aryl-hydrocarbon receptor nuclear translocator 2							211.0	202.0	205.0					15																	80767431		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80767431G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.489G>T	15.37:g.80767431G>T						ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Silent_p.V163V|ARNT2_ENST00000527771.1_Silent_p.V152V	p.V152V			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		6	795	+			163			PAS 1.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.456G>T	CCDS32307.1																																																																																				0.488	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	127	1	0	0.000602214	1	0.00062298	5	127				
NCAPD3	23310	broad.mit.edu	37	11	134054559	134054559	+	Silent	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:134054559T>C	ENST00000534548.2	-	19	2488	c.2424A>G	c.(2422-2424)gcA>gcG	p.A808A	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	808					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTCTGCAGATGCTCTACAAA	0.463																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2422-2424)gcA>gcG		non-SMC condensin II complex, subunit D3							78.0	73.0	75.0					11																	134054559		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054559T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2424A>G	11.37:g.134054559T>C						RP11-700F16.3_ENST00000531710.1_RNA	p.A808A	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	19	2488	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	808					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2424A>G	CCDS31723.1																																																																																				0.463	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		24	29	0	0	0	1	0	24	29				
KIF18B	146909	broad.mit.edu	37	17	43003541	43003541	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:43003541A>G	ENST00000593135.1	-	16	2563	c.2466T>C	c.(2464-2466)agT>agC	p.S822S	KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000339151.4_Silent_p.S825S|KIF18B_ENST00000587309.1_3'UTR	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	834					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCACAGGGGACTCAAGGGCA	0.642																																						ENST00000593135.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2464-2466)agT>agC		kinesin family member 18B							72.0	78.0	76.0					17																	43003541		2101	4226	6327	SO:0001819	synonymous_variant	146909							g.chr17:43003541A>G		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2466T>C	17.37:g.43003541A>G						KIF18B_ENST00000587309.1_3'UTR|KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000339151.4_Silent_p.S825S	p.S822S	NM_001265577.1	NP_001252506.1					16	2563	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.2466T>C	CCDS45709.2																																																																																				0.642	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		15	19	0	0	0	1	0	15	19				
MDFI	4188	broad.mit.edu	37	6	41621201	41621201	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:41621201C>T	ENST00000373050.4	+	4	633	c.446C>T	c.(445-447)gCc>gTc	p.A149V				Q99750	MDFI_HUMAN	MyoD family inhibitor	210					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GGCGAGTGTGCCGACTGCGAC	0.662																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(445-447)gCc>gTc		MyoD family inhibitor							115.0	96.0	102.0					6																	41621201		2203	4300	6503	SO:0001583	missense	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621201C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.446C>T	6.37:g.41621201C>T	ENSP00000362141:p.Ala149Val						p.A149V			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	633	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		210						Missense_Mutation	SNP	ENST00000373050.4	37	c.446C>T		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262524	0.39995	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050	.	.	.	5.1	4.22	0.49857	.	0.436359	0.24330	N	0.039463	T	0.35998	0.0951	L	0.50333	1.59	0.37517	D	0.91739	B	0.28082	0.2	B	0.24155	0.051	T	0.38112	-0.9676	9	0.40728	T	0.16	-2.0631	12.6408	0.56709	0.0:0.9194:0.0:0.0806	.	210	Q99750	MDFI_HUMAN	V	210;210;210;210;210;149	.	ENSP00000230321:A210V	A	+	2	0	MDFI	41729179	0.996000	0.38824	0.984000	0.44739	0.414000	0.31173	2.852000	0.48310	2.371000	0.80710	0.555000	0.69702	GCC		0.662	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		4	99	0	0	0	1	0	4	99				
KDELR2	11014	broad.mit.edu	37	7	6505724	6505724	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:6505724G>A	ENST00000258739.4	-	4	766	c.582C>T	c.(580-582)ttC>ttT	p.F194F	KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	194					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACAAGTAGAAGAAGTCACAGT	0.478																																						ENST00000258739.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(580-582)ttC>ttT		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							98.0	100.0	99.0					7																	6505724		2203	4300	6503	SO:0001819	synonymous_variant	0				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6505724G>A	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.582C>T	7.37:g.6505724G>A						KDELR2_ENST00000490996.1_Intron|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron	p.F194F	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	4	766	-		Ovarian(82;0.0776)	194					A4D2P4|Q6IPC5|Q96E30	Silent	SNP	ENST00000258739.4	37	c.582C>T	CCDS5351.1																																																																																				0.478	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			22	45	0	0	0	1	0	22	45				
CALN1	83698	broad.mit.edu	37	7	71252776	71252776	+	Missense_Mutation	SNP	C	C	T	rs370771019		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:71252776C>T	ENST00000329008.5	-	6	942	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CALN1_ENST00000412588.1_Missense_Mutation_p.R257Q|CALN1_ENST00000395275.2_Missense_Mutation_p.R257Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R215Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R215Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R215Q	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGCCGCTCCGGAGTATCTG	0.582																																						ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(769-771)cGg>cAg		calneuron 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82.0	65.0	71.0		644,770	5.0	1.0	7		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CALN1	NM_001017440.2,NM_031468.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	215/220,257/262	71252776	1,13005	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252776C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.644G>A	7.37:g.71252776C>T	ENSP00000332498:p.Arg215Gln					CALN1_ENST00000329008.5_Missense_Mutation_p.R215Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R215Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R215Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R257Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R215Q	p.R257Q	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			7	1158	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	215					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.770G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513940	0.85389	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80994	-1.18;-1.44;-1.18;-1.18;-1.44;-1.18	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.29908	0.895	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.86865	0.2032	10	0.87932	D	0	-35.7804	17.2647	0.87083	0.0:1.0:0.0:0.0	.	215;215	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Q	215;257;215;215;257;215	ENSP00000332498:R215Q;ENSP00000378690:R257Q;ENSP00000378691:R215Q;ENSP00000410704:R215Q;ENSP00000391882:R257Q;ENSP00000384354:R215Q	ENSP00000332498:R215Q	R	-	2	0	CALN1	70890712	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	7.724000	0.84798	2.303000	0.77524	0.462000	0.41574	CGG		0.582	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		15	11	0	0	0	1	0	15	11				
BLK	640	broad.mit.edu	37	8	11400821	11400821	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:11400821G>A	ENST00000259089.4	+	2	680	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	30					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GAAGGTCAGCGCCCAAGACAA	0.562																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(88-90)Gcc>Acc		B lymphoid tyrosine kinase							57.0	61.0	59.0					8																	11400821		2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11400821G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.88G>A	8.37:g.11400821G>A	ENSP00000259089:p.Ala30Thr					BLK_ENST00000529894.1_Intron	p.A30T	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	2	680	+			30					Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.88G>A	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	G	7.377	0.628093	0.14257	.	.	ENSG00000136573	ENST00000259089;ENST00000427279	T	0.74421	-0.84	5.54	-11.1	0.00147	.	1.404080	0.05169	N	0.499209	T	0.41949	0.1181	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18871	-1.0323	10	0.13108	T	0.6	.	3.5611	0.07882	0.1466:0.2594:0.4113:0.1827	.	30	P51451	BLK_HUMAN	T	30	ENSP00000259089:A30T	ENSP00000259089:A30T	A	+	1	0	BLK	11438230	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.406000	0.01044	-2.686000	0.00406	-0.266000	0.10368	GCC		0.562	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			21	25	0	0	0	1	0	21	25				
TCP10L2	401285	broad.mit.edu	37	6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	rs2989545	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(682-684)cTg>cCg		t-complex 10-like 2							22.0	25.0	24.0					6																	167592524		692	1586	2278	SO:0001583	missense	401285							g.chr6:167592524T>C		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.683T>C	6.37:g.167592524T>C	ENSP00000355797:p.Leu228Pro						p.L228P	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	814	+			228						Missense_Mutation	SNP	ENST00000366832.2	37	c.683T>C	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	N	3.564	-0.089011	0.07097	.	.	ENSG00000166984	ENST00000366832	T	0.19669	2.13	1.87	0.683	0.17998	.	.	.	.	.	T	0.03095	0.0091	N	0.11201	0.11	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	8	0.48119	T	0.1	.	5.4648	0.16637	0.0:0.1826:0.0:0.8174	rs2989545;rs59337236	228	B9ZVM9	TCP2L_HUMAN	P	228	ENSP00000355797:L228P	ENSP00000283507:L228P	L	+	2	0	TCP10L2	167512514	0.002000	0.14202	0.006000	0.13384	0.011000	0.07611	0.093000	0.15086	-0.165000	0.10908	-1.687000	0.00730	CTG		0.602	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		3	21	0	0	0	1	0	3	21				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			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		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	33	0	0	0	1	0	18	33				
MUC16	94025	broad.mit.edu	37	19	9058490	9058490	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:9058490G>A	ENST00000397910.4	-	3	29159	c.28956C>T	c.(28954-28956)ccC>ccT	p.P9652P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9654	Ser-rich.|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)				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						CTGTCATGATGGGAGAGGTAG	0.488																																						ENST00000397910.4																			0				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.(28954-28956)ccC>ccT		mucin 16, cell surface associated							169.0	148.0	155.0					19																	9058490		1999	4165	6164	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058490G>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.28956C>T	19.37:g.9058490G>A							p.P9652P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29159	-			9654			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28956C>T	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	41	0	0	0	1	0	25	41				
RGPD4	285190	broad.mit.edu	37	2	108487634	108487634	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:108487634A>G	ENST00000408999.3	+	20	3251	c.3174A>G	c.(3172-3174)aaA>aaG	p.K1058K	RGPD4_ENST00000354986.4_Silent_p.K1058K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1058	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAGGTGAAAAAGTTCTGTATT	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3172-3174)aaA>aaG		RANBP2-like and GRIP domain containing 4							12.0	9.0	10.0					2																	108487634		683	1568	2251	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108487634A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3174A>G	2.37:g.108487634A>G						RGPD4_ENST00000354986.4_Silent_p.K1058K	p.K1058K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3251	+			1058			RanBD1 1.		B9A029	Silent	SNP	ENST00000408999.3	37	c.3174A>G	CCDS46381.1																																																																																				0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		14	512	0	0	0	1	0	14	512				
DCHS2	54798	broad.mit.edu	37	4	155236942	155236942	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr4:155236942C>G	ENST00000357232.4	-	15	3852	c.3853G>C	c.(3853-3855)Ggg>Cgg	p.G1285R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1285	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3853-3855)Ggg>Cgg		dachsous cadherin-related 2							70.0	72.0	72.0					4																	155236942		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155236942C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3853G>C	4.37:g.155236942C>G	ENSP00000349768:p.Gly1285Arg						p.G1285R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3852	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1285			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3853G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022882	0.54683	.	.	ENSG00000197410	ENST00000357232	T	0.69806	-0.43	5.53	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.85026	0.5603	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88718	0.3227	10	0.87932	D	0	.	14.8786	0.70513	0.0:0.9307:0.0:0.0693	.	1285	Q6V1P9	PCD23_HUMAN	R	1285	ENSP00000349768:G1285R	ENSP00000349768:G1285R	G	-	1	0	DCHS2	155456392	0.999000	0.42202	0.710000	0.30468	0.154000	0.21943	4.484000	0.60271	1.484000	0.48361	0.585000	0.79938	GGG		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	61	0	0	0	1	0	3	61				
PDK3	5165	broad.mit.edu	37	X	24552177	24552177	+	Silent	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:24552177A>G	ENST00000379162.4	+	11	1444	c.1209A>G	c.(1207-1209)aaA>aaG	p.K403K	PDK3_ENST00000441463.2_Silent_p.K403K	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	403					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAAAATACAAAGCAAAACAGT	0.428																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1207-1209)aaA>aaG		pyruvate dehydrogenase kinase, isozyme 3							72.0	61.0	65.0					X																	24552177		2203	4300	6503	SO:0001819	synonymous_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24552177A>G	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1209A>G	X.37:g.24552177A>G						PDK3_ENST00000379162.4_Silent_p.K403K	p.K403K	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			11	1209	+			403					B4DXG6	Silent	SNP	ENST00000379162.4	37	c.1209A>G	CCDS14212.1																																																																																				0.428	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		8	27	0	0	0	1	0	8	27				
BCAS3	54828	broad.mit.edu	37	17	59024689	59024689	+	Silent	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:59024689T>C	ENST00000390652.5	+	14	1228	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	BCAS3_ENST00000588874.1_Silent_p.L170L|BCAS3_ENST00000408905.3_Silent_p.L399L|BCAS3_ENST00000407086.3_Silent_p.L399L|BCAS3_ENST00000585744.1_Silent_p.L170L|BCAS3_ENST00000588462.1_Silent_p.L399L|BCAS3_ENST00000589222.1_Silent_p.L399L	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTATACTCTTCACAGGGGAG	0.408																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1195-1197)ctT>ctC		breast carcinoma amplified sequence 3							180.0	166.0	170.0					17																	59024689		1898	4128	6026	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59024689T>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1197T>C	17.37:g.59024689T>C						BCAS3_ENST00000585744.1_Silent_p.L170L|BCAS3_ENST00000588462.1_Silent_p.L399L|BCAS3_ENST00000390652.5_Silent_p.L399L|BCAS3_ENST00000407086.3_Silent_p.L399L|BCAS3_ENST00000408905.3_Silent_p.L399L|BCAS3_ENST00000588874.1_Silent_p.L170L	p.L399L			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		14	1265	+			399						Silent	SNP	ENST00000390652.5	37	c.1197T>C	CCDS45749.1																																																																																				0.408	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		67	103	0	0	0	1	0	67	103				
DNAH8	1769	broad.mit.edu	37	6	38897333	38897333	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:38897333G>C	ENST00000359357.3	+	73	10768	c.10514G>C	c.(10513-10515)aGc>aCc	p.S3505T	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3469T|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3722T|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3505	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGAGGACAGCCTTTCCTTG	0.418																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10513-10515)aGc>aCc		dynein, axonemal, heavy chain 8							145.0	140.0	142.0					6																	38897333		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38897333G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10514G>C	6.37:g.38897333G>C	ENSP00000352312:p.Ser3505Thr					RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3722T|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3469T|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA	p.S3505T							73	10768	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10514G>C		.	.	.	.	.	.	.	.	.	.	G	17.22	3.334636	0.60853	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.22134	1.97;1.97;1.97	5.65	3.76	0.43208	.	0.185791	0.64402	D	0.000018	T	0.26304	0.0642	M	0.80982	2.52	0.38175	D	0.939433	P	0.38148	0.62	P	0.47864	0.559	T	0.10636	-1.0621	10	0.66056	D	0.02	.	13.058	0.58992	0.0699:0.1801:0.75:0.0	.	3505	Q96JB1	DYH8_HUMAN	T	3710;3710;3505;3469	ENSP00000333363:S3710T;ENSP00000352312:S3505T;ENSP00000402294:S3469T	ENSP00000333363:S3710T	S	+	2	0	DNAH8	39005311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.079000	0.64431	1.380000	0.46344	0.555000	0.69702	AGC		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	130	0	0	0	1	0	10	130				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	21	0	0	0	1	0	4	21				
CXorf57	55086	broad.mit.edu	37	X	105905388	105905388	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:105905388C>T	ENST00000372548.4	+	12	2231	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	CXorf57_ENST00000372544.2_Missense_Mutation_p.R611W|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTATTCCACGGAAATTTAT	0.408																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2122-2124)Cgg>Tgg		chromosome X open reading frame 57							90.0	82.0	85.0					X																	105905388		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105905388C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2122C>T	X.37:g.105905388C>T	ENSP00000361628:p.Arg708Trp					CXorf57_ENST00000372544.2_Missense_Mutation_p.R611W|CXorf57_ENST00000497124.1_3'UTR	p.R708W	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			12	2231	+			708					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.2122C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650720	0.47362	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.57752	0.4;0.46;0.38	4.84	2.02	0.26589	.	0.237484	0.42682	N	0.000671	T	0.42200	0.1192	M	0.64997	1.995	0.23899	N	0.996526	P;P	0.40534	0.72;0.72	B;B	0.34873	0.191;0.191	T	0.40194	-0.9576	10	0.72032	D	0.01	-6.8403	5.6325	0.17518	0.1571:0.6629:0.0:0.18	.	708;708	A8K6R5;Q6NSI4	.;CX057_HUMAN	W	611;708;419	ENSP00000361623:R611W;ENSP00000361628:R708W;ENSP00000405866:R419W	ENSP00000361623:R611W	R	+	1	2	CXorf57	105792044	0.998000	0.40836	0.992000	0.48379	0.425000	0.31504	0.383000	0.20651	0.153000	0.19213	0.538000	0.68166	CGG		0.408	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		26	42	0	0	0	1	0	26	42				
KRT73	319101	broad.mit.edu	37	12	53012113	53012113	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:53012113C>T	ENST00000305748.3	-	1	230	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	66	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCCACCCACTGCCACTG	0.642																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(196-198)Ggg>Agg		keratin 73							72.0	85.0	80.0					12																	53012113		2203	4299	6502	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53012113C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.196G>A	12.37:g.53012113C>T	ENSP00000307014:p.Gly66Arg						p.G66R	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	230	-			66			Gly-rich.|Head.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.196G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654858	0.67472	.	.	ENSG00000186049	ENST00000305748	D	0.97959	-4.63	4.64	4.64	0.57946	.	0.000000	0.53938	D	0.000053	D	0.97583	0.9208	L	0.54323	1.7	0.39497	D	0.968136	P	0.45011	0.848	P	0.53450	0.726	D	0.97667	1.0164	10	0.35671	T	0.21	.	18.3929	0.90489	0.0:1.0:0.0:0.0	.	66	Q86Y46	K2C73_HUMAN	R	66	ENSP00000307014:G66R	ENSP00000307014:G66R	G	-	1	0	KRT73	51298380	0.007000	0.16637	0.992000	0.48379	0.716000	0.41182	2.211000	0.42825	2.512000	0.84698	0.655000	0.94253	GGG		0.642	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		62	113	0	0	0	1	0	62	113				
KDM3B	51780	broad.mit.edu	37	5	137727662	137727662	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:137727662G>A	ENST00000314358.5	+	8	2541	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	KDM3B_ENST00000394866.1_Missense_Mutation_p.A437T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	781					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCCTCCCCGGCAGATTTTTC	0.537																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(2341-2343)Gca>Aca		lysine (K)-specific demethylase 3B							176.0	195.0	188.0					5																	137727662		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727662G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2341G>A	5.37:g.137727662G>A	ENSP00000326563:p.Ala781Thr					KDM3B_ENST00000394866.1_Missense_Mutation_p.A437T|KDM3B_ENST00000542866.1_Intron	p.A781T	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2541	+			781					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.2341G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931050	0.34096	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.72167	-0.07;-0.63	5.52	3.7	0.42460	.	0.402893	0.24745	N	0.035956	T	0.51075	0.1653	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44128	-0.9348	10	0.26408	T	0.33	-8.0862	11.3009	0.49304	0.1508:0.0:0.8492:0.0	.	437;781	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	T	781;571;437	ENSP00000326563:A781T;ENSP00000378335:A437T	ENSP00000326563:A781T	A	+	1	0	KDM3B	137755561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.277000	0.51654	1.466000	0.48025	0.655000	0.94253	GCA		0.537	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		5	346	0	0	0	1	0	5	346				
GLRA2	2742	broad.mit.edu	37	X	14627180	14627180	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:14627180G>A	ENST00000218075.4	+	7	1313	c.783G>A	c.(781-783)atG>atA	p.M261I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M261I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M172I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	261					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TGATCCAGATGTACATCCCAA	0.443																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(781-783)atG>atA		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						117.0	112.0	113.0					X																	14627180		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627180G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.783G>A	X.37:g.14627180G>A	ENSP00000218075:p.Met261Ile					GLRA2_ENST00000355020.4_Missense_Mutation_p.M261I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M172I	p.M261I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			7	1313	+	Hepatocellular(33;0.128)		261					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.783G>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936601	0.52972	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.83837	-1.77;-1.77;-1.77	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	N	0.04090	-0.28	0.80722	D	1	P;P;B	0.46277	0.875;0.705;0.029	P;P;B	0.53760	0.734;0.708;0.039	T	0.78952	-0.2001	10	0.27082	T	0.32	.	18.7674	0.91879	0.0:0.0:1.0:0.0	.	245;261;261	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	I	172;261;261	ENSP00000387756:M172I;ENSP00000218075:M261I;ENSP00000347123:M261I	ENSP00000218075:M261I	M	+	3	0	GLRA2	14537101	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.771000	0.98977	2.378000	0.81104	0.600000	0.82982	ATG		0.443	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			52	82	0	0	0	1	0	52	82				
ATRX	546	broad.mit.edu	37	X	76855029	76855029	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				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.K1936T(2)|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						TTTTTTCCCCTTTTTCCCTTT	0.348			"""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"""		3	Substitution - Missense(2)|Unknown(1)	p.K1936T(2)|p.?(1)	lung(2)|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.(5806-5808)aAg>aGg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						329.0	308.0	315.0					X																	76855029		2203	4295	6498	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:76855029T>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.5807A>G	X.37:g.76855029T>C	ENSP00000362441:p.Lys1936Arg					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R	p.K1936R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6021	-			1936			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5807A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.468878	0.26335	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92647	-3.07;-3.08	5.64	0.648	0.17801	.	0.202398	0.40469	N	0.001084	T	0.82217	0.4989	N	0.16903	0.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.67492	-0.5657	10	0.38643	T	0.18	-2.2976	8.217	0.31519	0.0:0.3103:0.0:0.6897	.	1898;1936	P46100-4;P46100	.;ATRX_HUMAN	R	1936;1898	ENSP00000362441:K1936R;ENSP00000378967:K1898R	ENSP00000362441:K1936R	K	-	2	0	ATRX	76741685	0.758000	0.28405	0.831000	0.32960	0.973000	0.67179	1.172000	0.31908	-0.241000	0.09681	-0.330000	0.08379	AAG		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	351	0	0	0	1	0	4	351				
NT5C1B	93034	broad.mit.edu	37	2	18765354	18765354	+	Splice_Site	SNP	C	C	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:18765354C>A	ENST00000359846.2	-	6	1148	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	NT5C1B_ENST00000600945.1_Splice_Site_p.K357N|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.K357N|NT5C1B_ENST00000304081.4_Splice_Site_p.K297N|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	357					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCAGAATACCTTGACGAAGC	0.562																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.e5+1		5'-nucleotidase, cytosolic IB							93.0	92.0	93.0					2																	18765354		2203	4300	6503	SO:0001630	splice_region_variant	93034							g.chr2:18765354C>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1071+1G>T	2.37:g.18765354C>A						NT5C1B_ENST00000359846.2_Splice_Site_p.K357_splice|NT5C1B_ENST00000600945.1_Splice_Site_p.K357_splice|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.K357_splice	p.K297_splice	NM_033253.3	NP_150278.2					5	991	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Splice_Site	SNP	ENST00000359846.2	37	c.891_splice	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176192	0.94846	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.91068	-2.78	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.79108	0.992;0.992;0.988;0.985;0.99;0.962;0.979;0.992;0.988	D	0.97244	0.9893	10	0.87932	D	0	-12.3257	19.9414	0.97163	0.0:1.0:0.0:0.0	.	340;374;297;340;299;149;297;357;357	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	N	357;299;297;357	ENSP00000412639:K299N	ENSP00000305979:K297N	K	-	3	2	NT5C1B-RDH14;NT5C1B	18628835	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.393000	0.79851	2.779000	0.95612	0.650000	0.86243	AAG		0.562	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		Missense_Mutation	30	41	1	0	8.4185e-14	1	9.18382e-14	30	41				
NBN	4683	broad.mit.edu	37	8	90967619	90967619	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:90967619T>C	ENST00000265433.3	-	10	1443	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	NBN_ENST00000409330.1_Missense_Mutation_p.Q348R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	430					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGTGAAAGCTGATAGTTTGG	0.393								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1288-1290)cAg>cGg	Homologous recombination	nibrin							144.0	143.0	143.0					8																	90967619		2203	4300	6503	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90967619T>C	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1289A>G	8.37:g.90967619T>C	ENSP00000265433:p.Gln430Arg					NBN_ENST00000409330.1_Missense_Mutation_p.Q348R	p.Q430R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		10	1443	-			430					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1289A>G	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389499	0.25118	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.59906	1.99;0.23	5.45	4.29	0.51040	.	1.007420	0.07954	N	0.981367	T	0.50497	0.1619	L	0.60455	1.87	0.24696	N	0.993283	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.44711	-0.9310	10	0.09084	T	0.74	1.0E-4	8.0882	0.30784	0.0:0.0921:0.0:0.9079	.	430;430	A6H8Y5;O60934	.;NBN_HUMAN	R	430;348;430	ENSP00000265433:Q430R;ENSP00000386924:Q348R	ENSP00000265433:Q430R	Q	-	2	0	NBN	91036795	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	2.328000	0.43867	0.902000	0.36520	0.528000	0.53228	CAG		0.393	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		34	94	0	0	0	1	0	34	94				
PLXNA1	5361	broad.mit.edu	37	3	126708285	126708285	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:126708285G>A	ENST00000393409.2	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V	PLXNA1_ENST00000251772.4_Silent_p.V260V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	283	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCAAGATCGTGCGGCTCTGTG	0.602																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(847-849)gtG>gtA		plexin A1							136.0	134.0	135.0					3																	126708285		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708285G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.849G>A	3.37:g.126708285G>A						PLXNA1_ENST00000251772.4_Silent_p.V260V	p.V283V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	849	+			283			Sema.			Silent	SNP	ENST00000393409.2	37	c.849G>A	CCDS33847.2																																																																																				0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		11	201	0	0	0	1	0	11	201				
COL12A1	1303	broad.mit.edu	37	6	75899313	75899313	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:75899313C>G	ENST00000322507.8	-	6	922	c.613G>C	c.(613-615)Gct>Cct	p.A205P	COL12A1_ENST00000416123.2_Missense_Mutation_p.A205P|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.A205P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	205	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTATTGCAGCAAGAAGTTCA	0.333																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(613-615)Gct>Cct		collagen, type XII, alpha 1							121.0	115.0	116.0					6																	75899313		1824	4077	5901	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75899313C>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.613G>C	6.37:g.75899313C>G	ENSP00000325146:p.Ala205Pro					COL12A1_ENST00000483888.2_Missense_Mutation_p.A205P|COL12A1_ENST00000416123.2_Missense_Mutation_p.A205P|COL12A1_ENST00000345356.6_Intron	p.A205P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			6	922	-			205			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.613G>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543497	0.27563	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78816	-1.21;-1.21;-1.21	5.65	2.7	0.31948	von Willebrand factor, type A (3);	0.281784	0.30126	N	0.010347	T	0.52468	0.1736	L	0.50847	1.595	0.25887	N	0.983523	P	0.42584	0.784	B	0.39562	0.303	T	0.41142	-0.9525	10	0.33940	T	0.23	.	8.2007	0.31424	0.3954:0.5346:0.0:0.07	.	205	Q99715	COCA1_HUMAN	P	205	ENSP00000325146:A205P;ENSP00000412864:A205P;ENSP00000421216:A205P	ENSP00000325146:A205P	A	-	1	0	COL12A1	75956033	0.994000	0.37717	1.000000	0.80357	0.872000	0.50106	0.823000	0.27366	0.716000	0.32124	-0.136000	0.14681	GCT		0.333	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		34	84	0	0	0	1	0	34	84				
NEURL4	84461	broad.mit.edu	37	17	7231124	7231124	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:7231124G>A	ENST00000399464.2	-	2	377	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEURL4_ENST00000315614.7_Missense_Mutation_p.T121M|NEURL4_ENST00000570460.1_Missense_Mutation_p.T121M	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	121	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGGCCCGTGGCACTGCT	0.602																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(361-363)aCg>aTg		neuralized E3 ubiquitin protein ligase 4							35.0	40.0	38.0					17																	7231124		2059	4195	6254	SO:0001583	missense	84461							g.chr17:7231124G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.362C>T	17.37:g.7231124G>A	ENSP00000382390:p.Thr121Met					NEURL4_ENST00000315614.7_Missense_Mutation_p.T121M|NEURL4_ENST00000570460.1_Missense_Mutation_p.T121M	p.T121M	NM_032442.2	NP_115818.2					2	377	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.362C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941565	0.73557	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73363	-0.74;-0.74	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);NEUZ (2);	0.063724	0.64402	D	0.000011	D	0.83115	0.5184	L	0.56769	1.78	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.909	T	0.82764	-0.0296	10	0.46703	T	0.11	-13.4017	16.3114	0.82873	0.0:0.0:1.0:0.0	.	121;121	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	M	121	ENSP00000319826:T121M;ENSP00000382390:T121M	ENSP00000319826:T121M	T	-	2	0	NEURL4	7171848	1.000000	0.71417	0.894000	0.35097	0.970000	0.65996	8.352000	0.90075	2.644000	0.89710	0.650000	0.86243	ACG		0.602	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		19	37	0	0	0	1	0	19	37				
IGSF1	3547	broad.mit.edu	37	X	130412696	130412696	+	Silent	SNP	G	G	A			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:130412696G>A	ENST00000361420.3	-	12	1859	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	IGSF1_ENST00000370910.1_Silent_p.L585L|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Silent_p.L599L|IGSF1_ENST00000370904.1_Silent_p.L585L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	594	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTGCCCACAGCTCAGGCTTA	0.537																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1753-1755)Ctg>Ttg		immunoglobulin superfamily, member 1							64.0	64.0	64.0					X																	130412696		2203	4295	6498	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412696G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1780C>T	X.37:g.130412696G>A						IGSF1_ENST00000361420.3_Silent_p.L594L|IGSF1_ENST00000370903.3_Silent_p.L599L|IGSF1_ENST00000370910.1_Silent_p.L585L	p.L585L			Q8N6C5	IGSF1_HUMAN			18	2663	-			594					B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.1753C>T	CCDS14629.1																																																																																				0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			41	56	0	0	0	1	0	41	56				
TIGIT	201633	broad.mit.edu	37	3	114014419	114014419	+	Missense_Mutation	SNP	C	C	T	rs376892258		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:114014419C>T	ENST00000486257.1	+	3	346	c.89C>T	c.(88-90)aCg>aTg	p.T30M	TIGIT_ENST00000481065.1_Missense_Mutation_p.T97M|TIGIT_ENST00000383671.3_Missense_Mutation_p.T30M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	30	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						ATAGAAACAACGGGGAACATT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20426	0.001		0.0	False		,,,				2504	0.0					ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(289-291)aCg>aTg		T cell immunoreceptor with Ig and ITIM domains							155.0	156.0	156.0					3																	114014419		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014419C>T	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.89C>T	3.37:g.114014419C>T	ENSP00000419085:p.Thr30Met					TIGIT_ENST00000486257.1_Missense_Mutation_p.T30M|TIGIT_ENST00000383671.3_Missense_Mutation_p.T30M	p.T97M			Q495A1	TIGIT_HUMAN			3	2905	+			30			Ig-like V-type.		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.290C>T	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732962	0.15507	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.66099	0.5;-0.19;-0.19;-0.19;0.5	4.45	-4.76	0.03229	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.506000	0.03973	N	0.292060	T	0.29093	0.0723	N	0.00926	-1.1	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.21143	-1.0254	10	0.46703	T	0.11	0.2116	5.9208	0.19080	0.1483:0.3104:0.0:0.5413	.	30	Q495A1	TIGIT_HUMAN	M	9;97;30;30;9	ENSP00000418917:T9M;ENSP00000420552:T97M;ENSP00000419085:T30M;ENSP00000373167:T30M;ENSP00000419706:T9M	ENSP00000373167:T30M	T	+	2	0	TIGIT	115497109	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.953000	0.01526	-0.792000	0.04480	-0.995000	0.02519	ACG		0.502	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		11	166	0	0	0	1	0	11	166				
MPRIP	23164	broad.mit.edu	37	17	17077304	17077304	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:17077304C>T	ENST00000341712.4	+	18	2504	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.A797V|MPRIP_ENST00000395811.5_Missense_Mutation_p.A835V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A835V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	835	Interaction with PPP1R12A.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGAGAATGCCCATCTGGCC	0.662																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2503-2505)gCc>gTc		myosin phosphatase Rho interacting protein							59.0	56.0	57.0					17																	17077304		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17077304C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2504C>T	17.37:g.17077304C>T	ENSP00000342379:p.Ala835Val					MPRIP_ENST00000341712.4_Missense_Mutation_p.A835V|MPRIP_ENST00000444976.1_Missense_Mutation_p.A797V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A835V|RP11-45M22.3_ENST00000584203.1_RNA	p.A835V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			18	2593	+			835			Interaction with PPP1R12A.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2504C>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.778531|5.778531	0.96929|0.96929	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184|ENST00000414263	T;T;T;T|.	0.25085|.	1.82;1.82;1.82;1.82|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77731|0.77731	0.4174|0.4174	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.996;0.999;1.0;0.99;0.999|.	D;D;D;P;D|.	0.81914|.	0.977;0.995;0.993;0.885;0.986|.	T|T	0.75795|0.75795	-0.3192|-0.3192	10|5	0.36615|.	T|.	0.2|.	-26.0648|-26.0648	20.0263|20.0263	0.97523|0.97523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	834;797;1199;835;835|.	B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;.;.;MPRIP_HUMAN|.	V|S	797;835;835;835;31|901	ENSP00000400189:A797V;ENSP00000379156:A835V;ENSP00000379149:A835V;ENSP00000342379:A835V|.	ENSP00000342379:A835V|.	A|P	+|+	2|1	0|0	MPRIP|MPRIP	17018029|17018029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.037000|6.037000	0.70956|0.70956	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.662	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		3	43	0	0	0	1	0	3	43				
DSP	1832	broad.mit.edu	37	6	7580378	7580378	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:7580378A>G	ENST00000379802.3	+	23	4296	c.3955A>G	c.(3955-3957)Acc>Gcc	p.T1319A	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1319	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGCTGCCAAGACCATTCAGGA	0.517																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3955-3957)Acc>Gcc		desmoplakin							68.0	73.0	71.0					6																	7580378		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580378A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3955A>G	6.37:g.7580378A>G	ENSP00000369129:p.Thr1319Ala					DSP_ENST00000418664.2_Intron	p.T1319A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4296	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1319			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3955A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	6.452	0.451573	0.12223	.	.	ENSG00000096696	ENST00000379802	D	0.90955	-2.76	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000008	D	0.87216	0.6122	N	0.25647	0.755	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.85224	0.1028	10	0.10902	T	0.67	.	14.9066	0.70724	1.0:0.0:0.0:0.0	.	1319	P15924	DESP_HUMAN	A	1319	ENSP00000369129:T1319A	ENSP00000369129:T1319A	T	+	1	0	DSP	7525377	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.974000	0.76122	2.018000	0.59344	0.451000	0.29950	ACC		0.517	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	107	0	0	0	1	0	4	107				
UBN2	254048	broad.mit.edu	37	7	138968722	138968722	+	Missense_Mutation	SNP	C	C	T	rs200304697		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:138968722C>T	ENST00000473989.3	+	15	3071	c.3071C>T	c.(3070-3072)aCg>aTg	p.T1024M	UBN2_ENST00000288561.8_Missense_Mutation_p.T941M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1024	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGATCTCCACGCAGGGTTTC	0.542																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2821-2823)aCg>aTg		ubinuclein 2							82.0	89.0	86.0					7																	138968722		2021	4176	6197	SO:0001583	missense	254048							g.chr7:138968722C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3071C>T	7.37:g.138968722C>T	ENSP00000418648:p.Thr1024Met					UBN2_ENST00000473989.2_Missense_Mutation_p.T1024M	p.T941M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3071	+			1024			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2822C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902698	0.33628	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36878	1.23;1.28	5.31	4.43	0.53597	.	0.298701	0.33127	N	0.005246	T	0.22360	0.0539	N	0.22421	0.69	0.28620	N	0.908233	P	0.36282	0.546	B	0.19666	0.026	T	0.14090	-1.0485	10	0.56958	D	0.05	-0.898	14.7457	0.69488	0.0:0.9293:0.0:0.0707	.	1024	Q6ZU65	UBN2_HUMAN	M	1024;941	ENSP00000418648:T1024M;ENSP00000288561:T941M	ENSP00000288561:T941M	T	+	2	0	UBN2	138619262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.260000	0.65490	1.564000	0.49628	0.557000	0.71058	ACG		0.542	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		26	26	0	0	0	1	0	26	26				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	lincRNA	DEL	CCA	CCA	-	rs587674920|rs60375635|rs376116193	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:121137803_121137805delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ACCGCCGCCGCCACGGCTTTTTG	0.645														2141	0.427516	0.4085	0.451	5008	,	,		10411	0.4157		0.4284	False		,,,				2504	0.4479					ENST00000437515.1																			0																																																			0							g.chr1:121137803_121137805delCCA																													1.37:g.121137803_121137805delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.645	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			11	8						11	8	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126220106	126220106	+	Frame_Shift_Del	DEL	T	T	-	rs569784894		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:126220106delT	ENST00000290868.2	-	10	973	c.920delA	c.(919-921)aagfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCACCTCCTTTTTTTTCCT	0.587																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(919-921)agfs		urocanate hydratase 1							209.0	200.0	203.0					3																	126220106		2203	4300	6503	SO:0001589	frameshift_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126220106delT	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.920delA	3.37:g.126220106delT	ENSP00000290868:p.Lys307fs					UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	p.K307fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	10	973	-			307					E9PE13|Q14C64|Q68CJ7	Frame_Shift_Del	DEL	ENST00000290868.2	37	c.920delA	CCDS3038.1																																																																																				0.587	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		8	234						8	234	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		11	Substitution - Missense(4)|Deletion - In frame(3)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Whole gene deletion(1)|Unknown(1)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)	endometrium(7)|lung(2)|large_intestine(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1384-1398)gaa>ga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589623_67589634delATATGATAGATT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1386_1397delATATGATAGATT	5.37:g.67589623_67589634delATATGATAGATT	ENSP00000428056:p.Tyr463_Leu466del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del	p.EYDRL462del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2002_2013	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	462					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1386_1397delATATGATAGATT	CCDS3993.1																																																																																				0.283	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		11	25						11	25	---	---	---	---
SUPT3H	8464	broad.mit.edu	37	6	45289563	45289563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:45289563delT	ENST00000371460.1	-	4	421	c.104delA	c.(103-105)aatfs	p.N35fs	SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371461.2_Frame_Shift_Del_p.N35fs	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	346					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGGAAGGATATTGTGATAACA	0.343																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(103-105)atfs		suppressor of Ty 3 homolog (S. cerevisiae)							46.0	45.0	45.0					6																	45289563		2202	4299	6501	SO:0001589	frameshift_variant	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:45289563delT	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371460.1:c.104delA	6.37:g.45289563delT	ENSP00000360515:p.Asn35fs					SUPT3H_ENST00000371461.2_Frame_Shift_Del_p.N35fs|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron	p.N35fs	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			4	421	-			346					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Frame_Shift_Del	DEL	ENST00000371460.1	37	c.104delA	CCDS34466.1																																																																																				0.343	SUPT3H-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106910.3	NM_181356		2	4						2	4	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4843373	4843373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:4843373delT	ENST00000399583.3	-	11	2490	c.2303delA	c.(2302-2304)gagfs	p.E768fs	RADIL_ENST00000538469.1_Frame_Shift_Del_p.E528fs|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	768					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGTAGGACTCCAGAACATC	0.642																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2302-2304)ggfs		Ras association and DIL domains							18.0	25.0	23.0					7																	4843373		2049	4175	6224	SO:0001589	frameshift_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4843373delT	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2303delA	7.37:g.4843373delT	ENSP00000382492:p.Glu768fs					RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.E528fs	p.E768fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	11	2490	-		Ovarian(82;0.0175)	768					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Frame_Shift_Del	DEL	ENST00000399583.3	37	c.2303delA	CCDS43544.1																																																																																				0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		2	4						2	4	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	95						7	95	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		10	168						10	168	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs60117710|rs374779752|rs200041551		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	5	11						5	11	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		4	8						4	8	---	---	---	---
RP11-161I6.2	0	broad.mit.edu	37	18	2079941	2079941	+	lincRNA	DEL	A	A	-			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr18:2079941delA	ENST00000579097.1	-	0	310																											tatgacagctaaaacaagaag	0.408																																						ENST00000579097.1																			0																																																			0							g.chr18:2079941delA																													18.37:g.2079941delA														0	310	-									RNA	DEL	ENST00000579097.1	37																																																																																						0.408	RP11-161I6.2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441770.1			2	4						2	4	---	---	---	---
