#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
MST1L	11223	broad.mit.edu	37	1	17084454	17084454	+	RNA	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:17084454G>C	ENST00000455405.2	-	0	435							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCTTGAGCAGGACAAGCTGGG	0.592																																						uc010ock.1																			0					0						c.(1642-1644)GTC>GTG		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17084454G>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084454G>C						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Silent_p.V148V	p.V548V	NR_002729						12	1644	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.1644C>G																																																																																					0.592	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
DNAJB4	11080	broad.mit.edu	37	1	78470832	78470832	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:78470832A>G	ENST00000370763.5	+	1	295	c.38A>G	c.(37-39)aAa>aGa	p.K13R	GIPC2_ENST00000476882.1_Intron|RP11-386I14.4_ENST00000608684.1_RNA|DNAJB4_ENST00000487931.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	13	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAATTGAGAAAGGAGCTTCA	0.368																																						uc001dij.2																			0					0						c.(37-39)AAA>AGA		DnaJ (Hsp40) homolog, subfamily B, member 4							100.0	112.0	108.0					1																	78470832		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78470832A>G	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.38A>G	1.37:g.78470832A>G	ENSP00000359799:p.Lys13Arg					DNAJB4_uc010orn.1_Intron	p.K13R	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			1	197	+			13			J.		B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.38A>G	CCDS684.1	.	.	.	.	.	.	.	.	.	.	A	7.219	0.597063	0.13875	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.29142	1.58;1.58	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	N	0.00980	-1.08	0.80722	D	1	B	0.17465	0.022	B	0.26864	0.074	T	0.31861	-0.9928	10	0.02654	T	1	.	16.1885	0.81971	1.0:0.0:0.0:0.0	.	13	Q9UDY4	DNJB4_HUMAN	R	13	ENSP00000399494:K13R;ENSP00000359799:K13R	ENSP00000359799:K13R	K	+	2	0	DNAJB4	78243420	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.952000	0.70282	2.213000	0.71641	0.528000	0.53228	AAA		0.368	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3		
ODF2L	57489	broad.mit.edu	37	1	86822223	86822223	+	Silent	SNP	C	C	T	rs372029682		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:86822223C>T	ENST00000359242.3	-	14	1703	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	ODF2L_ENST00000370567.1_Silent_p.A445A|ODF2L_ENST00000394731.1_Silent_p.A314A|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Silent_p.A445A|ODF2L_ENST00000370566.3_Intron|ODF2L_ENST00000317336.7_Silent_p.A474A	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	474						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCCGTTCCGCCGCCGTCAAGG	0.547																																						uc001dll.1																			0				ovary(1)	1						c.(1420-1422)GCG>GCA		outer dense fiber of sperm tails 2-like isoform		C	,,,	0,4406		0,0,2203	77.0	70.0	72.0		1422,,,1335	-3.9	0.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,coding-synonymous	ODF2L	NM_001007022.2,NM_001184765.1,NM_001184766.1,NM_020729.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	474/637,,,445/621	86822223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57489					centrosome		g.chr1:86822223C>T		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1422G>A	1.37:g.86822223C>T						ODF2L_uc001dlm.1_Silent_p.A445A|ODF2L_uc001dln.2_Silent_p.A445A|ODF2L_uc001dlo.2_Silent_p.A314A|ODF2L_uc001dlp.2_Intron|ODF2L_uc010osg.1_Intron	p.A474A	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	14	1762	-			474			Potential.		A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Silent	SNP	ENST00000359242.3	37	c.1422G>A	CCDS41354.2																																																																																				0.547	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
ZNF644	84146	broad.mit.edu	37	1	91403294	91403296	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:91403294_91403296delCTT	ENST00000370440.1	-	4	3651_3653	c.3434_3436delAAG	c.(3433-3438)gaaggg>ggg	p.E1145del	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_In_Frame_Del_p.E1145del|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAATTCAGCCCTTCTTCTTCTGA	0.365																																						uc001dnw.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(3433-3438)GAAGGG>GGG		zinc finger protein 644 isoform 1																																				SO:0001651	inframe_deletion	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403294_91403296delCTT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3434_3436delAAG	1.37:g.91403300_91403302delCTT	ENSP00000359469:p.Glu1145del					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron	p.E1145del	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3576_3578	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1145					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	In_Frame_Del	DEL	ENST00000370440.1	37	c.3434_3436delAAG	CCDS731.1																																																																																				0.365	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
TMED5	50999	broad.mit.edu	37	1	93620253	93620256	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:93620253_93620256delCAAA	ENST00000370282.3	-	4	1146_1149	c.661_664delTTTG	c.(661-666)tttgaafs	p.FE221fs	TMED5_ENST00000479918.1_3'UTR|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	221					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTCTTATCTTCAAACAGACTCTTC	0.348																																						uc001dpn.2																			0				ovary(1)	1						c.(661-666)TTTGAAfs		transmembrane emp24 protein transport domain																																				SO:0001589	frameshift_variant	50999				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr1:93620253_93620256delCAAA	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.661_664delTTTG	1.37:g.93620253_93620256delCAAA	ENSP00000359305:p.Phe221fs					TMED5_uc001dpo.2_3'UTR|TMED5_uc001dpp.2_RNA	p.F221fs	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	4	1108_1111	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	221_222			Cytoplasmic (Potential).		B1AKT4|B2R703|D3DT38|Q96AX8	Frame_Shift_Del	DEL	ENST00000370282.3	37	c.661_664delTTTG	CCDS743.1																																																																																				0.348	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040	
SSR2	6746	broad.mit.edu	37	1	155989853	155989853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:155989853C>A	ENST00000295702.4	-	2	177	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SSR2_ENST00000480567.1_Nonsense_Mutation_p.E36*|SSR2_ENST00000496742.1_Nonsense_Mutation_p.E36*|SSR2_ENST00000529008.1_Nonsense_Mutation_p.E36*	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	36					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCGTCCCTCCACGGCGTAT	0.483																																						uc001fmx.2																			0					0						c.(106-108)GAG>TAG		signal sequence receptor, beta precursor							120.0	110.0	114.0					1																	155989853		2203	4300	6503	SO:0001587	stop_gained	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155989853C>A	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.106G>T	1.37:g.155989853C>A	ENSP00000295702:p.Glu36*					SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Nonsense_Mutation_p.E55*|SSR2_uc010pgw.1_Nonsense_Mutation_p.E55*	p.E36*	NM_003145	NP_003136	P43308	SSRB_HUMAN			2	186	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		36			Lumenal (Potential).		B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Nonsense_Mutation	SNP	ENST00000295702.4	37	c.106G>T	CCDS1126.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863481	0.91511	.	.	ENSG00000163479	ENST00000295702;ENST00000529008;ENST00000496742;ENST00000480567;ENST00000531917;ENST00000526212	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-17.9018	15.9945	0.80230	0.0:1.0:0.0:0.0	.	.	.	.	X	36	.	ENSP00000295702:E36X	E	-	1	0	SSR2	154256477	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.294000	0.78760	2.346000	0.79739	0.430000	0.28490	GAG		0.483	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145	
OR6K2	81448	broad.mit.edu	37	1	158670186	158670186	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:158670186A>G	ENST00000359610.2	-	1	300	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CCTCTCACTAAGCAGGCTAGA	0.458																																						uc001fsu.1																			0				pancreas(1)	1						c.(256-258)CTT>CCT		olfactory receptor, family 6, subfamily K,							100.0	95.0	97.0					1																	158670186		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670186A>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.257T>C	1.37:g.158670186A>G	ENSP00000352626:p.Leu86Pro						p.L86P	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	257	-	all_hematologic(112;0.0378)		86			Extracellular (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.257T>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841091	0.71488	.	.	ENSG00000196171	ENST00000359610	T	0.00542	6.69	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	N	0.002113	T	0.01222	0.0040	M	0.90595	3.13	0.80722	D	1	D	0.58970	0.984	P	0.56916	0.809	T	0.49969	-0.8882	10	0.87932	D	0	-13.1354	13.7372	0.62824	1.0:0.0:0.0:0.0	.	86	Q8NGY2	OR6K2_HUMAN	P	86	ENSP00000352626:L86P	ENSP00000352626:L86P	L	-	2	0	OR6K2	156936810	0.806000	0.28996	0.891000	0.34965	0.774000	0.43823	4.151000	0.58105	2.050000	0.60909	0.533000	0.62120	CTT		0.458	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
NDUFS2	4720	broad.mit.edu	37	1	161182256	161182256	+	Nonsense_Mutation	SNP	C	C	T	rs534026057		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:161182256C>T	ENST00000367993.3	+	11	1550	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	NDUFS2_ENST00000465923.1_3'UTR|FCER1G_ENST00000289902.1_5'Flank|NDUFS2_ENST00000392179.4_Nonsense_Mutation_p.R368*|FCER1G_ENST00000367992.3_5'Flank	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	368					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TCCACCTAAGCGAGCAGAGAT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18918	0.0		0.001	False		,,,				2504	0.0					uc001fyv.2																			0				skin(1)	1						c.(1102-1104)CGA>TGA		NADH dehydrogenase (ubiquinone) Fe-S protein 2	NADH(DB00157)						77.0	66.0	69.0					1																	161182256		2203	4300	6503	SO:0001587	stop_gained	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161182256C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1102C>T	1.37:g.161182256C>T	ENSP00000356972:p.Arg368*					NDUFS2_uc001fyw.2_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.1_Nonsense_Mutation_p.R317*|NDUFS2_uc001fyx.2_Nonsense_Mutation_p.R342*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	p.R368*	NM_004550	NP_004541	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		11	1550	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		368					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Nonsense_Mutation	SNP	ENST00000367993.3	37	c.1102C>T	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	C	39	7.865975	0.98534	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2259	0.48884	0.2954:0.7046:0.0:0.0	.	.	.	.	X	368	.	ENSP00000356972:R368X	R	+	1	2	NDUFS2	159448880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.438000	0.52871	2.412000	0.81896	0.650000	0.86243	CGA		0.527	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550	
NOS1AP	9722	broad.mit.edu	37	1	162257211	162257213	+	In_Frame_Del	DEL	GAA	GAA	-	rs530021849		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:162257211_162257213delGAA	ENST00000361897.5	+	3	657_659	c.255_257delGAA	c.(253-258)ctgaag>ctg	p.K90del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.K92del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	90	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGTGATTCTGAAGAAGAAGAAA	0.433																																						uc001gbv.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(253-258)CTGAAG>CTG		nitric oxide synthase 1 (neuronal) adaptor																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162257211_162257213delGAA	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.255_257delGAA	1.37:g.162257220_162257222delGAA	ENSP00000355133:p.Lys90del					NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del	p.K90del	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		3	642_644	+	all_hematologic(112;0.203)		90			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.255_257delGAA	CCDS1237.1																																																																																				0.433	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
TNNT2	7139	broad.mit.edu	37	1	201331099	201331101	+	In_Frame_Del	DEL	TCT	TCT	-	rs121964859|rs190805300|rs45578238		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:201331099_201331101delTCT	ENST00000509001.1	-	13	915_917	c.629_631delAGA	c.(628-633)aagatt>att	p.K210del	TNNT2_ENST00000367317.4_In_Frame_Del_p.K210del|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367322.1_In_Frame_Del_p.K207del|TNNT2_ENST00000367315.2_In_Frame_Del_p.K207del|TNNT2_ENST00000458432.2_In_Frame_Del_p.K219del|TNNT2_ENST00000360372.4_In_Frame_Del_p.K205del|TNNT2_ENST00000367318.5_In_Frame_Del_p.K210del|TNNT2_ENST00000421663.2_In_Frame_Del_p.K213del|TNNT2_ENST00000367320.2_In_Frame_Del_p.K177del|TNNT2_ENST00000236918.7_In_Frame_Del_p.K215del	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	220			Missing (in CMD1D). {ECO:0000269|PubMed:11106718}.		ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCAGCCAGAATCTTCTTCTTCTT	0.576											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gwf.2																			0					0	GRCh37	CD003106	TNNT2	D	rs45578238	c.(649-654)AAGATT>ATT		troponin T type 2, cardiac isoform 1																																				SO:0001651	inframe_deletion	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201331099_201331101delTCT	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.629_631delAGA	1.37:g.201331108_201331110delTCT	ENSP00000422031:p.Lys210del		OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2121	TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_RNA|TNNT2_uc001gwg.2_In_Frame_Del_p.K207del|TNNT2_uc001gwh.2_In_Frame_Del_p.K204del|TNNT2_uc001gwi.2_In_Frame_Del_p.K177del|TNNT2_uc009wzr.2_In_Frame_Del_p.K148del	p.K217del	NM_000364	NP_000355	P45379	TNNT2_HUMAN			13	719_721	-			220		Missing (in CMD1D).			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	In_Frame_Del	DEL	ENST00000509001.1	37	c.650_652delAGA	CCDS30969.1																																																																																				0.576	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364	
JMJD1C	221037	broad.mit.edu	37	10	64960280	64960282	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:64960280_64960282delTTC	ENST00000399262.2	-	11	5448_5450	c.5230_5232delGAA	c.(5230-5232)gaadel	p.E1744del	JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_In_Frame_Del_p.E1562del|JMJD1C_ENST00000402544.1_In_Frame_Del_p.E1525del	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1744					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTGAGCTGGTTCTTCTCCTTTT	0.35																																						uc001jmn.2																			0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(5230-5232)GAAdel		jumonji domain containing 1C isoform a																																				SO:0001651	inframe_deletion	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64960280_64960282delTTC	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5230_5232delGAA	10.37:g.64960283_64960285delTTC	ENSP00000382204:p.Glu1744del					JMJD1C_uc001jml.2_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.2_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.1_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	p.E1744del	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			11	5530_5532	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1744					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	In_Frame_Del	DEL	ENST00000399262.2	37	c.5230_5232delGAA	CCDS41532.1																																																																																				0.350	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
CYP2E1	1571	broad.mit.edu	37	10	135351261	135351261	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:135351261G>C	ENST00000463117.2	+	10	1434	c.1162G>C	c.(1162-1164)Gtc>Ctc	p.V388L	CYP2E1_ENST00000252945.3_Missense_Mutation_p.V388L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	388					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTAGGGCACAGTCGTAGTGCC	0.398									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1																			0				central_nervous_system(3)	3						c.(1162-1164)GTC>CTC		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						91.0	85.0	87.0					10																	135351261		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135351261G>C	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1162G>C	10.37:g.135351261G>C	ENSP00000440689:p.Val388Leu					CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L	p.V388L	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	8	1195	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	388					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1162G>C	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785857	0.16189	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.87	-0.357	0.12579	.	0.753028	0.13404	N	0.390432	T	0.45836	0.1362	N	0.20610	0.595	0.09310	N	1	B;B	0.21688	0.059;0.017	B;B	0.18871	0.023;0.006	T	0.26815	-1.0092	10	0.31617	T	0.26	.	8.1067	0.30890	0.5772:0.0:0.4228:0.0	.	284;388	Q59EW1;P05181	.;CP2E1_HUMAN	L	388;388;301;251	ENSP00000440689:V388L;ENSP00000252945:V388L;ENSP00000412754:V301L;ENSP00000397299:V251L	ENSP00000252945:V388L	V	+	1	0	CYP2E1	135201251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.022000	0.12480	0.047000	0.15862	-0.312000	0.09012	GTC		0.398	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
MUC5B	727897	broad.mit.edu	37	11	1257593	1257593	+	Intron	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:1257593G>A	ENST00000529681.1	+	24	2938				MUC5B_ENST00000447027.1_Intron	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCGGCTTCCGGCAGCGTCTG	0.677																																						uc009ycr.1																			0					0						c.(4936-4938)CGG>CAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							16.0	19.0	18.0					11																	1257593		1898	4108	6006	SO:0001627	intron_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1257593G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2881-23G>A	11.37:g.1257593G>A						MUC5B_uc009yct.1_Intron|MUC5B_uc001ltb.2_Intron|MUC5B_uc001lta.2_Intron	p.R1646Q	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	40	5063	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4937G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.499	-0.315612	0.05422	.	.	ENSG00000117983	ENST00000406844	.	.	.	3.03	-6.06	0.02165	.	.	.	.	.	T	0.12860	0.0312	.	.	.	0.09310	N	1	B	0.23249	0.082	B	0.14578	0.011	T	0.21381	-1.0247	7	0.15499	T	0.54	.	0.1307	0.00073	0.2748:0.2097:0.1675:0.3479	.	1646	A7Y9J9	.	Q	1023	.	ENSP00000384815:R1023Q	R	+	2	0	MUC5B	1214169	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.622000	0.02042	-2.625000	0.00437	0.313000	0.20887	CGG		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
CHRNA10	57053	broad.mit.edu	37	11	3687783	3687783	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:3687783T>C	ENST00000250699.2	-	5	978	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_Silent_p.T120T|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	303					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	ATAGTGGCCATGTAGTACTTC	0.507																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2																			0				ovary(1)	1						c.(907-909)ATG>GTG		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						76.0	74.0	75.0					11																	3687783		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687783T>C	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.907A>G	11.37:g.3687783T>C	ENSP00000250699:p.Met303Val					CHRNA10_uc010qxt.1_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.1_Missense_Mutation_p.M97V	p.M303V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	979	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	303			Helical; (Potential).			Missense_Mutation	SNP	ENST00000250699.2	37	c.907A>G	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623424	0.46840	.	.	ENSG00000129749	ENST00000250699	D	0.83992	-1.79	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.078967	0.56097	D	0.000040	T	0.73729	0.3624	N	0.20881	0.62	0.80722	D	1	B	0.22683	0.073	B	0.20577	0.03	T	0.70081	-0.4970	10	0.41790	T	0.15	.	14.4483	0.67367	0.0:0.0:0.0:1.0	.	303	Q9GZZ6	ACH10_HUMAN	V	303	ENSP00000250699:M303V	ENSP00000250699:M303V	M	-	1	0	CHRNA10	3644359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.635000	0.83286	2.091000	0.63221	0.459000	0.35465	ATG		0.507	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2		
CNGA4	1262	broad.mit.edu	37	11	6261617	6261617	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:6261617G>A	ENST00000379936.2	+	4	708	c.593G>A	c.(592-594)cGt>cAt	p.R198H	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	198					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTCGGGCGTGACGCATGG	0.547																																						uc001mco.2																			0				skin(1)	1						c.(592-594)CGT>CAT		cyclic nucleotide gated channel alpha 4							62.0	66.0	65.0					11																	6261617		2200	4295	6495	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261617G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.593G>A	11.37:g.6261617G>A	ENSP00000369268:p.Arg198His					CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.R158H	p.R198H	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	700	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	198			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.593G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380601	0.24944	.	.	ENSG00000132259	ENST00000379936	D	0.98531	-4.98	5.25	4.33	0.51752	Ion transport (1);	0.529460	0.21971	N	0.066444	D	0.91640	0.7358	N	0.14661	0.345	0.20703	N	0.999862	B;P	0.52463	0.124;0.953	B;B	0.30316	0.033;0.114	D	0.87342	0.2332	10	0.59425	D	0.04	.	5.8619	0.18752	0.1702:0.1597:0.6701:0.0	.	198;158	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	H	198	ENSP00000369268:R198H	ENSP00000369268:R198H	R	+	2	0	CNGA4	6218193	0.000000	0.05858	0.848000	0.33437	0.333000	0.28666	0.417000	0.21214	1.342000	0.45619	0.650000	0.86243	CGT		0.547	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
OR10A6	390093	broad.mit.edu	37	11	7950020	7950020	+	Silent	SNP	G	G	A	rs141585665	byFrequency	TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:7950020G>A	ENST00000309838.2	-	1	189	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATAAGTTCAGGAGAAACAGG	0.443													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		18002	0.0		0.0	False		,,,				2504	0.0					uc010rbh.1																			0				ovary(1)|skin(1)	2						c.(190-192)CTG>TTG		olfactory receptor, family 10, subfamily A,		G		5,4397	9.9+/-24.2	0,5,2196	119.0	114.0	116.0		190	2.1	0.9	11	dbSNP_134	116	0,8592		0,0,4296	no	coding-synonymous	OR10A6	NM_001004461.1		0,5,6492	AA,AG,GG		0.0,0.1136,0.0385		64/315	7950020	5,12989	2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950020G>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.190C>T	11.37:g.7950020G>A							p.L64L	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	190	-			64			Helical; Name=2; (Potential).		Q6IF59	Silent	SNP	ENST00000309838.2	37	c.190C>T	CCDS31420.1																																																																																				0.443	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
SYT13	57586	broad.mit.edu	37	11	45268002	45268002	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:45268002C>T	ENST00000020926.3	-	5	1019	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACCAGGAGGCGGTTGGCAGC	0.572																																						uc001myq.2																			0				ovary(1)	1						c.(907-909)CGC>CAC		synaptotagmin XIII							69.0	67.0	68.0					11																	45268002		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45268002C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.908G>A	11.37:g.45268002C>T	ENSP00000020926:p.Arg303His					SYT13_uc009yku.1_Missense_Mutation_p.R159H	p.R303H	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			5	1034	-			303			C2 2.|Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.908G>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017168	0.93404	.	.	ENSG00000019505	ENST00000020926	T	0.09630	2.96	5.24	5.24	0.73138	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	M	0.84326	2.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.36114	-0.9761	10	0.87932	D	0	.	18.8357	0.92162	0.0:1.0:0.0:0.0	.	303	Q7L8C5	SYT13_HUMAN	H	303	ENSP00000020926:R303H	ENSP00000020926:R303H	R	-	2	0	SYT13	45224578	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.242000	0.72376	2.448000	0.82819	0.561000	0.74099	CGC		0.572	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826	
PSMC3	5702	broad.mit.edu	37	11	47446172	47446173	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:47446172_47446173delTT	ENST00000298852.3	-	4	532_533	c.375_376delAA	c.(373-378)aaaaccfs	p.KT125fs	PSMC3_ENST00000602866.1_Frame_Shift_Del_p.KT109fs|PSMC3_ENST00000530912.1_Frame_Shift_Del_p.KT83fs	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K125N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGTAGAGGTTTTGATCACAG	0.545																																						uc001nfh.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(4)	4						c.(373-378)AAAACCfs		proteasome 26S ATPase subunit 3																																				SO:0001589	frameshift_variant	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47446172_47446173delTT	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.375_376delAA	11.37:g.47446174_47446175delTT	ENSP00000298852:p.Lys125fs					PSMC3_uc009ylr.1_Frame_Shift_Del_p.K83fs	p.K125fs	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	569_570	-			125_126					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Frame_Shift_Del	DEL	ENST00000298852.3	37	c.375_376delAA	CCDS7935.1																																																																																				0.545	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804	
SSRP1	6749	broad.mit.edu	37	11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-	rs142261788		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:57093935_57093937delTTC	ENST00000278412.2	-	17	2340_2342	c.2074_2076delGAA	c.(2074-2076)gaadel	p.E692del	RP11-872D17.4_ENST00000534162.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	692	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TACTGGCTAGTTCTTCTTCTTCA	0.552																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2																			0				ovary(2)	2						c.(2074-2076)GAAdel		structure specific recognition protein 1																																				SO:0001651	inframe_deletion	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57093935_57093937delTTC	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.2074_2076delGAA	11.37:g.57093944_57093946delTTC	ENSP00000278412:p.Glu692del					TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	p.E692del	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			17	2341_2343	-			692			Ser-rich.		Q5BJG8	In_Frame_Del	DEL	ENST00000278412.2	37	c.2074_2076delGAA	CCDS7952.1																																																																																				0.552	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146	
TENM4	26011	broad.mit.edu	37	11	78440577	78440577	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:78440577T>C	ENST00000278550.7	-	22	3712	c.3250A>G	c.(3250-3252)Atc>Gtc	p.I1084V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1084					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTGAAGGGGATGGTCGGGTGG	0.567																																						uc001ozl.3																			0				ovary(2)|pancreas(2)	4						c.(3250-3252)ATC>GTC		odz, odd Oz/ten-m homolog 4							59.0	66.0	64.0					11																	78440577		1979	4152	6131	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78440577T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3250A>G	11.37:g.78440577T>C	ENSP00000278550:p.Ile1084Val						p.I1084V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			22	3713	-			1084			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3250A>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127512	0.56721	.	.	ENSG00000149256	ENST00000278550	D	0.89875	-2.58	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	N	0.10782	0.045	0.51767	D	0.999938	P	0.48640	0.913	P	0.61592	0.891	D	0.85804	0.1375	9	.	.	.	.	14.3756	0.66874	0.0:0.0:0.0:1.0	.	1084	Q6N022	TEN4_HUMAN	V	1084	ENSP00000278550:I1084V	.	I	-	1	0	ODZ4	78118225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.921000	0.63397	1.974000	0.57490	0.402000	0.26972	ATC		0.567	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
TMEM126B	55863	broad.mit.edu	37	11	85342819	85342819	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:85342819T>C	ENST00000358867.6	+	2	193	c.170T>C	c.(169-171)aTa>aCa	p.I57T	TMEM126B_ENST00000534341.1_Missense_Mutation_p.I57T|TMEM126B_ENST00000393375.1_Missense_Mutation_p.I27T	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	57						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAGAAATCATAGAAAAAAAT	0.353																																						uc001pao.2																			0					0						c.(79-81)ATA>ACA		transmembrane protein 126B							45.0	43.0	44.0					11																	85342819		2203	4299	6502	SO:0001583	missense	55863					integral to membrane		g.chr11:85342819T>C		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"""Mitochondrial respiratory chain complex assembly factors"""	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.170T>C	11.37:g.85342819T>C	ENSP00000351737:p.Ile57Thr					TMEM126B_uc001pan.1_Missense_Mutation_p.I27T|TMEM126B_uc001pap.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.1_Missense_Mutation_p.I27T	p.I27T	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN			3	332	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	57					A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.80T>C	CCDS8267.2	.	.	.	.	.	.	.	.	.	.	T	19.64	3.864670	0.71949	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375	T;T;T	0.39056	1.1;1.1;1.1	4.89	4.89	0.63831	.	0.524779	0.22179	N	0.063538	T	0.57607	0.2065	M	0.73598	2.24	0.41050	D	0.985298	P;P	0.52577	0.954;0.944	P;P	0.57057	0.812;0.714	T	0.60146	-0.7320	9	.	.	.	.	12.2842	0.54783	0.0:0.0:0.0:1.0	.	57;27	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	T	57;57;27	ENSP00000351737:I57T;ENSP00000433471:I57T;ENSP00000377039:I27T	.	I	+	2	0	TMEM126B	85020467	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.821000	0.55700	2.188000	0.69820	0.533000	0.62120	ATA		0.353	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480	
FOLH1B	219595	broad.mit.edu	37	11	89424051	89424054	+	RNA	DEL	AAAC	AAAC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:89424051_89424054delAAAC	ENST00000532352.1	+	0	1514_1517							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.T235I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTGTAGGAAACAAACAAATTC	0.319																																						uc001pda.2																			1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(700-705)GAAACAfs		folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424051_89424054delAAAC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424055_89424058delAAAC							p.E234fs	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1227_1230	+			234_235						Frame_Shift_Del	DEL	ENST00000532352.1	37	c.701_704delAAAC																																																																																					0.319	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
ARHGAP32	9743	broad.mit.edu	37	11	128840825	128840825	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:128840825G>C	ENST00000310343.9	-	22	4240	c.4241C>G	c.(4240-4242)cCc>cGc	p.P1414R	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1065R|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1065R|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1414	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGTGGGGGGCAGTGGTGC	0.592																																						uc009zcp.2																			0				lung(3)|ovary(2)	5						c.(4240-4242)CCC>CGC		Rho GTPase-activating protein isoform 1							72.0	68.0	69.0					11																	128840825		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840825G>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4241C>G	11.37:g.128840825G>C	ENSP00000310561:p.Pro1414Arg					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P373R|ARHGAP32_uc001qez.2_Missense_Mutation_p.P1065R	p.P1414R	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	4241	-			1414			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.4241C>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058282	0.76074	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.40756	1.14;1.02;1.02	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.68952	2.095	0.58432	D	0.999998	D	0.63880	0.993	P	0.60682	0.878	T	0.60480	-0.7255	10	0.52906	T	0.07	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	1414	A7KAX9	RHG32_HUMAN	R	1414;1065;1065	ENSP00000310561:P1414R;ENSP00000376425:P1065R;ENSP00000432862:P1065R	ENSP00000310561:P1414R	P	-	2	0	ARHGAP32	128346035	1.000000	0.71417	0.624000	0.29186	0.411000	0.31082	8.988000	0.93501	2.825000	0.97269	0.655000	0.94253	CCC		0.592	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
KIAA1467	57613	broad.mit.edu	37	12	13208755	13208755	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:13208755G>A	ENST00000197268.8	+	2	428	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	103						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCATATGTGCGCACGTCTGTC	0.587																																						uc001rbi.2																			0				central_nervous_system(2)|skin(1)	3						c.(307-309)CGC>CAC		hypothetical protein LOC57613							102.0	88.0	93.0					12																	13208755		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208755G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.308G>A	12.37:g.13208755G>A	ENSP00000197268:p.Arg103His					KIAA1467_uc009zhx.1_RNA	p.R103H	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	331	+		Prostate(47;0.184)	103					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.308G>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	g	31	5.090377	0.94149	.	.	ENSG00000084444	ENST00000197268	T	0.28255	1.62	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.78456	2.415	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.64266	-0.6448	10	0.87932	D	0	-8.4903	19.0711	0.93136	0.0:0.0:1.0:0.0	.	103	A2RU67	K1467_HUMAN	H	103	ENSP00000197268:R103H	ENSP00000197268:R103H	R	+	2	0	KIAA1467	13100022	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.282000	0.78630	2.495000	0.84180	0.598000	0.82781	CGC		0.587	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
HIST4H4	121504	broad.mit.edu	37	12	14923761	14923761	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:14923761A>G	ENST00000539745.1	-	1	304	c.258T>C	c.(256-258)gaT>gaC	p.D86D	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	86					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGTACACCACATCCATGGCCG	0.587											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rcf.3																			0				ovary(2)	2						c.(256-258)GAT>GAC		histone cluster 4, H4							105.0	88.0	94.0					12																	14923761		2203	4300	6503	SO:0001819	synonymous_variant	121504				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr12:14923761A>G	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.258T>C	12.37:g.14923761A>G			OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	698	HIST4H4_uc001rce.2_RNA	p.D86D	NM_175054	NP_778224	P62805	H4_HUMAN			1	305	-			86					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000539745.1	37	c.258T>C	CCDS8665.1																																																																																				0.587	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054	
ARID2	196528	broad.mit.edu	37	12	46245922	46245923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:46245922_46245923delAG	ENST00000334344.6	+	15	4188_4189	c.4016_4017delAG	c.(4015-4017)cagfs	p.Q1339fs	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Frame_Shift_Del_p.Q1190fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.Q949fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1339					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGGGAAACAGAACTCAGAAC	0.371			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(4015-4017)CAGfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245922_46245923delAG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4016_4017delAG	12.37:g.46245922_46245923delAG	ENSP00000335044:p.Gln1339fs					ARID2_uc001ror.2_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs	p.Q1339fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4016_4017	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1339					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.4016_4017delAG	CCDS31783.1																																																																																				0.371	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
FREM2	341640	broad.mit.edu	37	13	39425866	39425866	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:39425866A>G	ENST00000280481.7	+	11	7002	c.6786A>G	c.(6784-6786)gaA>gaG	p.E2262E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2262	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGTCACTGAACCCAAAGAAC	0.398																																						uc001uwv.2																			0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(6784-6786)GAA>GAG		FRAS1-related extracellular matrix protein 2							55.0	56.0	56.0					13																	39425866		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425866A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6786A>G	13.37:g.39425866A>G						FREM2_uc001uww.2_Silent_p.E348E	p.E2262E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	11	7095	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2262			Extracellular (Potential).|Calx-beta 5.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.6786A>G	CCDS31960.1																																																																																				0.398	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
AKAP11	11215	broad.mit.edu	37	13	42877884	42877884	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:42877884A>G	ENST00000025301.2	+	8	5177	c.5002A>G	c.(5002-5004)Agt>Ggt	p.S1668G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1668					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAGCTGAGCAGTACCAGCCT	0.507																																						uc001uys.1																			0				ovary(1)|central_nervous_system(1)	2						c.(5002-5004)AGT>GGT		A-kinase anchor protein 11							37.0	36.0	36.0					13																	42877884		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877884A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5002A>G	13.37:g.42877884A>G	ENSP00000025301:p.Ser1668Gly						p.S1668G	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	5177	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1668					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.5002A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	4.112	0.018934	0.08006	.	.	ENSG00000023516	ENST00000025301	T	0.45668	0.89	5.67	5.67	0.87782	.	0.165154	0.49916	D	0.000133	T	0.23451	0.0567	N	0.08118	0	0.19775	N	0.99996	B	0.13145	0.007	B	0.06405	0.002	T	0.12811	-1.0533	10	0.30854	T	0.27	.	11.6813	0.51458	0.8599:0.0:0.0:0.1401	.	1668	Q9UKA4	AKA11_HUMAN	G	1668	ENSP00000025301:S1668G	ENSP00000025301:S1668G	S	+	1	0	AKAP11	41775884	0.992000	0.36948	0.880000	0.34516	0.032000	0.12392	3.899000	0.56288	2.148000	0.66965	0.482000	0.46254	AGT		0.507	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
RCBTB2	1102	broad.mit.edu	37	13	49089796	49089796	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:49089796G>C	ENST00000344532.3	-	5	547	c.124C>G	c.(124-126)Cta>Gta	p.L42V	RCBTB2_ENST00000430805.2_Missense_Mutation_p.L47V|RCBTB2_ENST00000544904.1_Missense_Mutation_p.L18V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_5'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	42					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATTAACTGTAGTTCTTCTTCA	0.363																																						uc001vch.2																			0				ovary(2)|lung(2)|skin(1)	5						c.(124-126)CTA>GTA		regulator of chromosome condensation and BTB							85.0	88.0	87.0					13																	49089796		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49089796G>C	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.124C>G	13.37:g.49089796G>C	ENSP00000345144:p.Leu42Val					RCBTB2_uc010tgg.1_Missense_Mutation_p.L47V|RCBTB2_uc001vci.2_Missense_Mutation_p.L18V|RCBTB2_uc010tgh.1_5'UTR|RCBTB2_uc001vcj.2_Missense_Mutation_p.L46V|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Missense_Mutation_p.L18V	p.L42V	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	5	495	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	42					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.124C>G	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387308	0.25031	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904	T;T;T	0.62364	0.03;0.04;0.85	6.04	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	L	0.49513	1.565	0.46458	D	0.999056	B;B;B;B	0.20887	0.049;0.003;0.028;0.003	B;B;B;B	0.18871	0.023;0.004;0.023;0.008	T	0.33266	-0.9875	10	0.11485	T	0.65	.	5.4475	0.16544	0.1925:0.0:0.5619:0.2455	.	18;47;46;42	B4DPP7;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	V	42;46;47;47;18	ENSP00000345144:L42V;ENSP00000389910:L47V;ENSP00000443904:L18V	ENSP00000345144:L42V	L	-	1	2	RCBTB2	47987797	0.994000	0.37717	0.912000	0.35992	0.984000	0.73092	2.216000	0.42871	1.537000	0.49254	0.561000	0.74099	CTA		0.363	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268	
RNY4P30	100862673	broad.mit.edu	37	13	50465740	50465740	+	RNA	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:50465740T>C	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		AAATCTATATTCAGTTATCTG	0.333																																						uc001vdk.2																			0					0						c.(1012-1014)ATT>ATC		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																						220429							g.chr13:50465740T>C			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50465740T>C							p.I338I	NR_003268						1	1196	+									Silent	SNP	ENST00000410216.1	37	c.1014T>C																																																																																					0.333	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA			
RNASE4	6038	broad.mit.edu	37	14	21167918	21167918	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:21167918C>T	ENST00000555835.1	+	2	1064	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	RNASE4_ENST00000304704.4_Missense_Mutation_p.R130C|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000397995.2_Missense_Mutation_p.R130C|RNASE4_ENST00000555597.1_Missense_Mutation_p.R130C|RP11-903H12.3_ENST00000554286.1_RNA	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	130					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GAGCACTAGACGTGTTGTCAT	0.527																																					Esophageal Squamous(59;1059 1362 26290 51151)	uc001vxy.3																			0				central_nervous_system(1)	1						c.(388-390)CGT>TGT		ribonuclease, RNase A family, 4 precursor							129.0	117.0	121.0					14																	21167918		2203	4299	6502	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167918C>T	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.388C>T	14.37:g.21167918C>T	ENSP00000452245:p.Arg130Cys					RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.R130C	p.R130C	NM_002937	NP_002928	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	951	+	all_cancers(95;0.00304)		130						Missense_Mutation	SNP	ENST00000555835.1	37	c.388C>T	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874291	0.33069	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.8	4.91	0.64330	Ribonuclease A, domain (4);	0.492459	0.22254	N	0.062513	T	0.39118	0.1066	M	0.72118	2.19	0.09310	N	0.999995	B	0.33612	0.419	B	0.23150	0.044	T	0.42241	-0.9463	10	0.54805	T	0.06	-4.916	11.1289	0.48334	0.0:0.915:0.0:0.085	.	130	P34096	RNAS4_HUMAN	C	130	ENSP00000452245:R130C;ENSP00000381081:R130C;ENSP00000451624:R130C;ENSP00000381087:R130C;ENSP00000307096:R130C;ENSP00000381085:R130C	ENSP00000307096:R130C	R	+	1	0	AL163636.2;RNASE4	20237758	0.018000	0.18449	0.015000	0.15790	0.732000	0.41865	1.520000	0.35899	1.598000	0.50083	0.650000	0.86243	CGT		0.527	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3		
GMPR2	51292	broad.mit.edu	37	14	24707579	24707581	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:24707579_24707581delGAA	ENST00000355299.4	+	9	1286_1288	c.825_827delGAA	c.(823-828)atgaag>atg	p.K277del	GMPR2_ENST00000348719.7_In_Frame_Del_p.K277del|GMPR2_ENST00000559104.1_In_Frame_Del_p.K262del|GMPR2_ENST00000399440.2_In_Frame_Del_p.K277del|GMPR2_ENST00000559910.1_In_Frame_Del_p.K244del|GMPR2_ENST00000456667.3_In_Frame_Del_p.K249del|GMPR2_ENST00000559836.1_In_Frame_Del_p.K277del|GMPR2_ENST00000557854.1_In_Frame_Del_p.K295del|GMPR2_ENST00000420554.2_In_Frame_Del_p.K295del	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	277					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AAATGGCCATGAAGAAGTATGCT	0.537																																						uc001wnr.2																			0				ovary(3)	3						c.(823-828)ATGAAG>ATG		guanosine monophosphate reductase 2 isoform 2																																				SO:0001651	inframe_deletion	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24707579_24707581delGAA		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.825_827delGAA	14.37:g.24707582_24707584delGAA	ENSP00000347449:p.Lys277del					GMPR2_uc001wnv.2_In_Frame_Del_p.K114del|GMPR2_uc001wns.2_In_Frame_Del_p.K277del|GMPR2_uc001wnt.2_In_Frame_Del_p.K244del|GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wnw.2_In_Frame_Del_p.K277del|GMPR2_uc010all.2_In_Frame_Del_p.K249del|GMPR2_uc001wnx.2_In_Frame_Del_p.K295del|GMPR2_uc010tod.1_In_Frame_Del_p.K244del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del	p.K277del	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	9	1207_1209	+			277					D3DS66|Q567T0|Q6IAJ8|Q86T14	In_Frame_Del	DEL	ENST00000355299.4	37	c.825_827delGAA	CCDS41935.1																																																																																				0.537	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	
DUOX2	50506	broad.mit.edu	37	15	45401132	45401132	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:45401132C>T	ENST00000603300.1	-	12	1455	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	DUOX2_ENST00000389039.6_Missense_Mutation_p.G418D	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	418	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAGAATTTGCCAGGGCCAGG	0.552																																						uc010bea.2																			0				ovary(2)|skin(2)|pancreas(1)	5	GRCh37	CD060597	DUOX2	D		c.(1252-1254)GGC>GAC		dual oxidase 2 precursor							48.0	51.0	50.0					15																	45401132		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45401132C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1253G>A	15.37:g.45401132C>T	ENSP00000475084:p.Gly418Asp					DUOX2_uc001zun.2_Missense_Mutation_p.G418D	p.G418D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	12	1456	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	418			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1253G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414003	0.42817	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.11	0.447	0.16608	.	0.686987	0.15094	N	0.280928	T	0.38983	0.1061	M	0.67397	2.05	0.24081	N	0.995941	B	0.06786	0.001	B	0.15870	0.014	T	0.31392	-0.9945	9	0.37606	T	0.19	-5.5753	3.5223	0.07747	0.2634:0.2995:0.0:0.4371	.	418	Q9NRD8	DUOX2_HUMAN	D	418	.	ENSP00000373691:G418D	G	-	2	0	DUOX2	43188424	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	1.600000	0.36762	0.039000	0.15632	0.467000	0.42956	GGC		0.552	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
ALDH1A2	8854	broad.mit.edu	37	15	58256142	58256142	+	Missense_Mutation	SNP	G	G	A	rs137957671		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:58256142G>A	ENST00000249750.4	-	9	1794	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R322W|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R305W|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R314W|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R247W	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	343					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CTCTTGGCCCGCTCCACGCTT	0.527																																						uc002aex.2																			0				central_nervous_system(1)	1						c.(1027-1029)CGG>TGG		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4384		0,0,2192	79.0	80.0	80.0		964,1027,913,739	2.6	1.0	15	dbSNP_134	80	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense,missense,missense	ALDH1A2	NM_001206897.1,NM_003888.3,NM_170696.2,NM_170697.2	101,101,101,101	0,1,6483	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	322/498,343/519,305/481,247/423	58256142	1,12967	2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58256142G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1027C>T	15.37:g.58256142G>A	ENSP00000249750:p.Arg343Trp					ALDH1A2_uc002aey.2_Missense_Mutation_p.R305W|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R322W|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.2_Missense_Mutation_p.R247W	p.R343W	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	9	1085	-			343					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1027C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875752	0.72180	0.0	1.16E-4	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78003	-1.14;-1.14;-1.14	5.6	2.57	0.30868	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.88757	0.6523	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;P;D;D	0.83275	0.831;0.74;0.996;0.994	D	0.89862	0.4017	10	0.87932	D	0	.	14.8482	0.70275	0.0:0.0:0.6136:0.3864	.	314;322;305;343	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	W	343;247;314;305;322	ENSP00000249750:R343W;ENSP00000309623:R305W;ENSP00000438296:R322W	ENSP00000249750:R343W	R	-	1	2	ALDH1A2	56043434	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	2.524000	0.45589	0.338000	0.23692	-0.188000	0.12872	CGG		0.527	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		
SCAPER	49855	broad.mit.edu	37	15	77059334	77059336	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:77059334_77059336delTTC	ENST00000563290.1	-	11	1437_1439	c.1342_1344delGAA	c.(1342-1344)gaadel	p.E448del	SCAPER_ENST00000324767.7_In_Frame_Del_p.E448del|SCAPER_ENST00000538941.2_In_Frame_Del_p.E202del			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	448	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TAGTTAACTGTTCTTCTTCAGCA	0.355																																						uc002bby.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1342-1344)GAAdel		S-phase cyclin A-associated protein in the ER																																				SO:0001651	inframe_deletion	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77059334_77059336delTTC	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1342_1344delGAA	15.37:g.77059340_77059342delTTC	ENSP00000454973:p.Glu448del					SCAPER_uc002bbx.2_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del	p.E448del	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			10	1401_1403	-			447			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	In_Frame_Del	DEL	ENST00000563290.1	37	c.1342_1344delGAA	CCDS53962.1																																																																																				0.355	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
SLC28A1	9154	broad.mit.edu	37	15	85476431	85476431	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:85476431C>T	ENST00000286749.3	+	12	1229	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SLC28A1_ENST00000537624.1_Missense_Mutation_p.A380V|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A380V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A380V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	380					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGTGCCTTGGCCCTCTCCAAG	0.562																																						uc002blg.2																			0				skin(2)|ovary(1)	3						c.(1138-1140)GCC>GTC		solute carrier family 28, member 1 isoform 1							162.0	137.0	145.0					15																	85476431		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476431C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1139C>T	15.37:g.85476431C>T	ENSP00000286749:p.Ala380Val					SLC28A1_uc010bnb.2_Missense_Mutation_p.A380V|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V	p.A380V	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1341	+			380			Helical; (Potential).		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1139C>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823597	0.90873	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	4.4	3.46	0.39613	Na dependent nucleoside transporter, C-terminal (1);	0.164292	0.53938	D	0.000052	T	0.18383	0.0441	L	0.53561	1.675	0.80722	D	1	D;P;D	0.76494	0.999;0.929;0.999	D;P;D	0.74023	0.973;0.839;0.982	T	0.00386	-1.1772	10	0.87932	D	0	-8.3774	11.9652	0.53031	0.0:0.8233:0.1767:0.0	.	380;380;380	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	380	ENSP00000440546:A380V;ENSP00000444700:A380V;ENSP00000286749:A380V;ENSP00000378074:A380V	ENSP00000286749:A380V	A	+	2	0	SLC28A1	83277435	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	2.980000	0.49321	1.035000	0.39972	0.563000	0.77884	GCC		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
MVP	9961	broad.mit.edu	37	16	29855969	29855969	+	Missense_Mutation	SNP	G	G	A	rs377434387		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:29855969G>A	ENST00000357402.5	+	11	1928	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	MVP_ENST00000395353.1_Missense_Mutation_p.R597H	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	597					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AACTCAGCCCGCATCATTCGC	0.617																																						uc002dui.2																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1789-1791)CGC>CAC		major vault protein		G	HIS/ARG,HIS/ARG	0,4394		0,0,2197	110.0	100.0	103.0		1790,1790	5.0	1.0	16		103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MVP	NM_005115.4,NM_017458.3	29,29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	597/894,597/894	29855969	1,12993	2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855969G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1790G>A	16.37:g.29855969G>A	ENSP00000349977:p.Arg597His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R597H|MVP_uc010vea.1_Missense_Mutation_p.R191H	p.R597H	NM_005115	NP_005106	Q14764	MVP_HUMAN			11	1874	+			597					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1790G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948226	0.92593	0.0	1.16E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.45276	0.9;0.9	5.91	4.96	0.65561	Shoulder domain (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.63821	-0.6550	10	0.49607	T	0.09	-5.8926	13.076	0.59087	0.0777:0.0:0.9223:0.0	.	597	Q14764	MVP_HUMAN	H	597	ENSP00000349977:R597H;ENSP00000378760:R597H	ENSP00000349977:R597H	R	+	2	0	MVP	29763470	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	8.396000	0.90190	1.512000	0.48834	0.655000	0.94253	CGC		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115	
MT1A	4489	broad.mit.edu	37	16	56673190	56673190	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56673190T>C	ENST00000290705.8	+	2	116	c.43T>C	c.(43-45)Tgc>Cgc	p.C15R	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	15	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTCCTGCACCTGCACTGGCTC	0.512																																						uc002ejq.2																			0					0						c.(43-45)TGC>CGC		metallothionein 1A							84.0	81.0	82.0					16																	56673190		2198	4300	6498	SO:0001583	missense	4489					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56673190T>C	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.43T>C	16.37:g.56673190T>C	ENSP00000290705:p.Cys15Arg					MT1A_uc002eji.2_Intron	p.C15R	NM_005946	NP_005937	P04731	MT1A_HUMAN			2	116	+			15			Beta.	Divalent metal cation; cluster B.	Q86YX5	Missense_Mutation	SNP	ENST00000290705.8	37	c.43T>C	CCDS32454.1	.	.	.	.	.	.	.	.	.	.	T	9.502	1.103425	0.20632	.	.	ENSG00000205362	ENST00000290705	T	0.34667	1.35	3.15	3.15	0.36227	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000003	T	0.55449	0.1921	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.57171	-0.7857	9	0.54805	T	0.06	.	9.2532	0.37568	0.0:0.0:0.0:1.0	.	15	P04731	MT1A_HUMAN	R	15	ENSP00000290705:C15R	ENSP00000290705:C15R	C	+	1	0	MT1A	55230691	0.987000	0.35691	0.142000	0.22268	0.045000	0.14185	3.921000	0.56454	1.418000	0.47098	0.374000	0.22700	TGC		0.512	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946	
SLC12A3	6559	broad.mit.edu	37	16	56901059	56901059	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56901059C>T	ENST00000563236.1	+	2	385	c.360C>T	c.(358-360)ggC>ggT	p.G120G	SLC12A3_ENST00000566786.1_Silent_p.G119G|SLC12A3_ENST00000438926.2_Silent_p.G120G|SLC12A3_ENST00000262502.5_Silent_p.G119G			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	120					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGGTGGAGGGCGAGGCAGGCA	0.652																																						uc010ccm.2																			0				ovary(2)|breast(1)	3						c.(358-360)GGC>GGT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						41.0	44.0	43.0					16																	56901059		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56901059C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.360C>T	16.37:g.56901059C>T						SLC12A3_uc002ekd.3_Silent_p.G120G|SLC12A3_uc010ccn.2_Silent_p.G119G	p.G120G	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			2	389	+			120			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.360C>T	CCDS58464.1																																																																																				0.652	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CNOT1	23019	broad.mit.edu	37	16	58562381	58562385	+	Frame_Shift_Del	DEL	TTAGA	TTAGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:58562381_58562385delTTAGA	ENST00000317147.5	-	44	6779_6783	c.6447_6451delTCTAA	c.(6445-6453)aatctaaagfs	p.NL2149fs	CNOT1_ENST00000245138.4_Frame_Shift_Del_p.NL1000fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.NL2144fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2149					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACCTTACCTTTAGATTAGGAGTGA	0.4																																						uc002env.2																			0				ovary(4)|central_nervous_system(2)	6						c.(6445-6453)AATCTAAAGfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58562381_58562385delTTAGA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6447_6451delTCTAA	16.37:g.58562381_58562385delTTAGA	ENSP00000320949:p.Asn2149fs					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.2_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.1_Frame_Shift_Del_p.N1106fs	p.N2149fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	44	6740_6744	-			2149_2151					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.6447_6451delTCTAA	CCDS10799.1																																																																																				0.400	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e5-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	p.Y126_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.376_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
MYH4	4622	broad.mit.edu	37	17	10350506	10350506	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10350506T>A	ENST00000255381.2	-	35	5103	c.4993A>T	c.(4993-4995)Atc>Ttc	p.I1665F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1665					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCTCTGATGGCATCATCC	0.468																																						uc002gmn.2																			0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4993-4995)ATC>TTC		myosin, heavy polypeptide 4, skeletal muscle							112.0	93.0	100.0					17																	10350506		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350506T>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4993A>T	17.37:g.10350506T>A	ENSP00000255381:p.Ile1665Phe					uc002gml.1_Intron	p.I1665F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			35	5104	-			1665			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4993A>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504249	0.44558	.	.	ENSG00000141048	ENST00000255381	T	0.77620	-1.11	5.09	-1.84	0.07809	Myosin tail (1);	0.474818	0.15237	U	0.273077	T	0.63792	0.2541	L	0.34521	1.04	0.31756	N	0.634023	B	0.18166	0.026	B	0.24155	0.051	T	0.56908	-0.7901	10	0.38643	T	0.18	.	9.1105	0.36725	0.0:0.225:0.5494:0.2256	.	1665	Q9Y623	MYH4_HUMAN	F	1665	ENSP00000255381:I1665F	ENSP00000255381:I1665F	I	-	1	0	MYH4	10291231	0.032000	0.19561	0.995000	0.50966	0.983000	0.72400	-0.210000	0.09345	-0.197000	0.10350	-0.460000	0.05396	ATC		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	broad.mit.edu	37	17	10395868	10395868	+	Silent	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10395868G>T	ENST00000226207.5	-	40	5779	c.5685C>A	c.(5683-5685)gtC>gtA	p.V1895V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1895					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						TGGAGAGGTTGACGTTGGATT	0.473																																						uc002gmo.2																			0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5683-5685)GTC>GTA		myosin, heavy chain 1, skeletal muscle, adult							102.0	93.0	96.0					17																	10395868		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10395868G>T		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.5685C>A	17.37:g.10395868G>T						uc002gml.1_Intron	p.V1895V	NM_005963	NP_005954	P12882	MYH1_HUMAN			40	5779	-			1895			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5685C>A	CCDS11155.1																																																																																				0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
DNAH9	1770	broad.mit.edu	37	17	11757746	11757749	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:11757746_11757749delGTGA	ENST00000262442.4	+	50	10001		c.e50+1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGATCGCTGTGAGTGACCCCAG	0.544																																						uc002gne.2																			0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.e50+1		dynein, axonemal, heavy chain 9 isoform 2																																				SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757746_11757749delGTGA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9933+1GTGA>-	17.37:g.11757750_11757753delGTGA						DNAH9_uc010coo.2_Splice_Site_p.A2605_splice	p.A3311_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	10001	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	DEL	ENST00000262442.4	37	c.9933_splice	CCDS11160.1																																																																																				0.544	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Intron
FAM83G	644815	broad.mit.edu	37	17	18906958	18906958	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:18906958G>A	ENST00000388995.6	-	2	620	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.L133L|FAM83G_ENST00000345041.4_Silent_p.L133L|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	133					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCCAGCCCAGGTCCAGCTGC	0.701																																						uc002guw.2																			0				ovary(1)|central_nervous_system(1)	2						c.(397-399)CTG>TTG		hypothetical protein LOC644815							22.0	26.0	24.0					17																	18906958		2070	4187	6257	SO:0001819	synonymous_variant	644815							g.chr17:18906958G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.397C>T	17.37:g.18906958G>A						SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.L133L	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			2	564	-			133					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.397C>T	CCDS42276.1																																																																																				0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4		
ACACA	31	broad.mit.edu	37	17	35564699	35564701	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:35564699_35564701delGGA	ENST00000394406.2	-	31	3800_3802	c.3610_3612delTCC	c.(3610-3612)tccdel	p.S1204del	ACACA_ENST00000360679.3_In_Frame_Del_p.S1146del|ACACA_ENST00000353139.5_In_Frame_Del_p.S1241del|ACACA_ENST00000335166.5_In_Frame_Del_p.S1126del	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1204					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTTGAGGTTGGAGGAGAAGGAC	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			0				large_intestine(1)|ovary(1)	2						c.(3610-3612)TCCdel		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)																																			SO:0001651	inframe_deletion	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35564699_35564701delGGA	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3610_3612delTCC	17.37:g.35564702_35564704delGGA	ENSP00000377928:p.Ser1204del					ACACA_uc002hnk.2_In_Frame_Del_p.S1126del|ACACA_uc002hnl.2_In_Frame_Del_p.S1146del|ACACA_uc002hnn.2_In_Frame_Del_p.S1204del|ACACA_uc002hno.2_In_Frame_Del_p.S1241del|ACACA_uc010cuy.2_5'Flank	p.S1204del	NM_198836	NP_942133	Q13085	ACACA_HUMAN			31	3801_3803	-		Breast(25;0.00157)|Ovarian(249;0.15)	1204					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	In_Frame_Del	DEL	ENST00000394406.2	37	c.3610_3612delTCC	CCDS11317.1																																																																																				0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						uc010wfo.1																			4	Substitution - Missense(4)		endometrium(3)|kidney(1)		0						c.(283-285)TGC>AGC		keratin associated protein 4.8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	322	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15.		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
SGSH	6448	broad.mit.edu	37	17	78185892	78185892	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:78185892G>A	ENST00000326317.6	-	7	1013	c.927C>T	c.(925-927)agC>agT	p.S309S	SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000534910.1_Silent_p.S106S|SGSH_ENST00000570923.1_3'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	309					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGGCCTCGCTGACTTGGC	0.617																																						uc002jxz.3																			0				ovary(1)|central_nervous_system(1)	2						c.(925-927)AGC>AGT		N-sulfoglucosamine sulfohydrolase precursor							73.0	60.0	65.0					17																	78185892		2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78185892G>A	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.927C>T	17.37:g.78185892G>A						SGSH_uc002jya.3_Silent_p.S106S|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	p.S309S	NM_000199	NP_000190	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	1014	-	all_neural(118;0.0952)		309					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.927C>T	CCDS11770.1																																																																																				0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199	
SETBP1	26040	broad.mit.edu	37	18	42533090	42533090	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:42533090G>C	ENST00000282030.5	+	4	4081	c.3785G>C	c.(3784-3786)aGa>aCa	p.R1262T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1262						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1208K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCACGAAAAGATACTCTGGC	0.537									Schinzel-Giedion syndrome																													uc010dni.2																			1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3784-3786)AGA>ACA		SET binding protein 1 isoform a							95.0	87.0	89.0					18																	42533090		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42533090G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3785G>C	18.37:g.42533090G>C	ENSP00000282030:p.Arg1262Thr						p.R1262T	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	4081	+			1262					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3785G>C	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687687	0.48097	.	.	ENSG00000152217	ENST00000282030	T	0.69926	-0.44	6.17	5.13	0.70059	.	0.161389	0.56097	D	0.000039	T	0.50274	0.1606	N	0.24115	0.695	0.27288	N	0.957907	P	0.35272	0.493	B	0.30495	0.116	T	0.53344	-0.8452	10	0.49607	T	0.09	.	12.7716	0.57423	0.137:0.0:0.863:0.0	.	1262	Q9Y6X0	SETBP_HUMAN	T	1262	ENSP00000282030:R1262T	ENSP00000282030:R1262T	R	+	2	0	SETBP1	40787088	1.000000	0.71417	0.936000	0.37596	0.960000	0.62799	3.741000	0.55090	2.941000	0.99782	0.655000	0.94253	AGA		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
MYO5B	4645	broad.mit.edu	37	18	47479673	47479674	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:47479673_47479674delTC	ENST00000285039.7	-	14	2007_2008	c.1708_1709delGA	c.(1708-1710)gacfs	p.D570fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	570	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATACACCGTGTCTCTGTTTTTC	0.52																																						uc002leb.2																			0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1708-1710)GACfs		myosin VB																																				SO:0001589	frameshift_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47479673_47479674delTC	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1708_1709delGA	18.37:g.47479675_47479676delTC	ENSP00000285039:p.Asp570fs					MYO5B_uc002lec.1_Frame_Shift_Del_p.D569fs	p.D570fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	14	1996_1997	-			570			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Frame_Shift_Del	DEL	ENST00000285039.7	37	c.1708_1709delGA	CCDS42436.1																																																																																				0.520	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
ZNF407	55628	broad.mit.edu	37	18	72343319	72343319	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:72343319C>A	ENST00000299687.5	+	1	344	c.344C>A	c.(343-345)aCc>aAc	p.T115N	ZNF407_ENST00000582337.1_Missense_Mutation_p.T115N|ZNF407_ENST00000309902.6_Missense_Mutation_p.T115N|ZNF407_ENST00000577538.1_Missense_Mutation_p.T115N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGAAGGAGACCTTTCTGAGT	0.443																																						uc002llw.2																			0				ovary(2)	2						c.(343-345)ACC>AAC		zinc finger protein 407 isoform 1							112.0	110.0	110.0					18																	72343319		1914	4137	6051	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343319C>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.344C>A	18.37:g.72343319C>A	ENSP00000299687:p.Thr115Asn					ZNF407_uc010xfc.1_Missense_Mutation_p.T115N|ZNF407_uc010dqu.1_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N	p.T115N	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	401	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	115					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.344C>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404969	0.25378	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09911	2.93;3.41	5.53	3.71	0.42584	.	.	.	.	.	T	0.06280	0.0162	N	0.19112	0.55	0.09310	N	1	B;B;B	0.23806	0.091;0.091;0.055	B;B;B	0.21360	0.023;0.034;0.015	T	0.21621	-1.0240	9	0.39692	T	0.17	.	3.1113	0.06359	0.1526:0.564:0.1307:0.1528	.	115;115;115	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	N	115	ENSP00000299687:T115N;ENSP00000310359:T115N	ENSP00000299687:T115N	T	+	2	0	ZNF407	70472307	0.001000	0.12720	0.044000	0.18714	0.039000	0.13416	0.646000	0.24797	2.770000	0.95276	0.655000	0.94253	ACC		0.443	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ELANE	1991	broad.mit.edu	37	19	855979	855979	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:855979G>A	ENST00000590230.1	+	6	760	c.619G>A	c.(619-621)Gtc>Atc	p.V207I	ELANE_ENST00000263621.1_Missense_Mutation_p.V207I			P08246	ELNE_HUMAN	elastase, neutrophil expressed	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGCCCCTTGGTCTGCAACGG	0.657																																						uc002lqb.2																			0				pancreas(1)	1						c.(619-621)GTC>ATC		neutrophil elastase preproprotein	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						42.0	48.0	46.0					19																	855979		2203	4299	6502	SO:0001583	missense	1991	Kostmann_syndrome			cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:855979G>A		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.619G>A	19.37:g.855979G>A	ENSP00000466090:p.Val207Ile						p.V207I	NM_001972	NP_001963	P08246	ELNE_HUMAN			5	657	+			207			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	c.619G>A	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686221	0.14973	.	.	ENSG00000197561	ENST00000263621	D	0.89270	-2.49	4.46	2.31	0.28768	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.224860	0.22162	N	0.063771	D	0.85656	0.5747	L	0.53561	1.675	0.35939	D	0.833078	P	0.37398	0.593	B	0.42738	0.396	T	0.82110	-0.0619	10	0.30854	T	0.27	.	6.8505	0.24012	0.22:0.0:0.78:0.0	.	207	P08246	ELNE_HUMAN	I	207	ENSP00000263621:V207I	ENSP00000263621:V207I	V	+	1	0	ELANE	806979	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	1.598000	0.36740	0.446000	0.26666	0.462000	0.41574	GTC		0.657	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972	
TMIGD2	126259	broad.mit.edu	37	19	4298041	4298042	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:4298041_4298042delTA	ENST00000301272.2	-	2	392_393	c.347_348delTA	c.(346-348)gtafs	p.V116fs	TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Frame_Shift_Del_p.V116fs|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	116	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATCTCTACGGCCGCCCA	0.653																																						uc002lzx.1																			0					0						c.(346-348)GTAfs		transmembrane and immunoglobulin domain																																				SO:0001589	frameshift_variant	126259					integral to membrane		g.chr19:4298041_4298042delTA	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.347_348delTA	19.37:g.4298041_4298042delTA	ENSP00000301272:p.Val116fs					TMIGD2_uc010dtv.1_Frame_Shift_Del_p.V116fs	p.V116fs	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	393_394	-			116			Extracellular (Potential).|Ig-like.		Q6UW59	Frame_Shift_Del	DEL	ENST00000301272.2	37	c.347_348delTA	CCDS12126.1																																																																																				0.653	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615	
TRIP10	9322	broad.mit.edu	37	19	6751206	6751206	+	Missense_Mutation	SNP	G	G	A	rs139028261	byFrequency	TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:6751206G>A	ENST00000313244.9	+	15	1825	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Missense_Mutation_p.R541Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.E551K|TRIP10_ENST00000600428.1_Missense_Mutation_p.R433Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	597	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCCTACCTCCGAGTCACGCTC	0.612													G|||	4	0.000798722	0.003	0.0	5008	,	,		12144	0.0		0.0	False		,,,				2504	0.0					uc002mfs.2																			0				ovary(1)	1						c.(1789-1791)CGA>CAA		thyroid hormone receptor interactor 10		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	61.0	67.0	65.0		1622	4.8	1.0	19	dbSNP_134	65	0,8600		0,0,4300	yes	missense	TRIP10	NM_004240.2	43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	541/546	6751206	3,13003	2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6751206G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1790G>A	19.37:g.6751206G>A	ENSP00000320117:p.Arg597Gln					TRIP10_uc010dux.1_Missense_Mutation_p.E551K|TRIP10_uc002mfr.2_Missense_Mutation_p.R541Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R360Q	p.R597Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN			15	1856	+			597			Interaction with PDE6G (By similarity).|SH3.|Required for podosome formation.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Required for interaction with FASLG and localization to lysosomes.|Interaction with WAS.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1790G>A		2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.40|11.40	1.626713|1.626713	0.28978|0.28978	6.81E-4|6.81E-4	0.0|0.0	ENSG00000125733|ENSG00000125733	ENST00000420690|ENST00000313285;ENST00000313244	.|T;T	.|0.16196	.|2.36;3.4	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Src homology-3 domain (3);	.|0.569877	.|0.16222	.|N	.|0.224005	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.00670|0.00670	-1.27|-1.27	0.32213|0.32213	N|N	0.576258|0.576258	B|D;D	0.12630|0.64830	0.006|0.994;0.979	B|D;P	0.06405|0.64042	0.002|0.921;0.511	T|T	0.18147|0.18147	-1.0346|-1.0346	8|10	0.87932|0.41790	D|T	0|0.15	-11.8101|-11.8101	9.2393|9.2393	0.37486|0.37486	0.0967:0.0:0.9033:0.0|0.0967:0.0:0.9033:0.0	.|.	551|597;541	G5E9U1|Q15642;Q15642-2	.|CIP4_HUMAN;.	K|Q	551|541;597	.|ENSP00000320493:R541Q;ENSP00000320117:R597Q	ENSP00000415493:E551K|ENSP00000320117:R597Q	E|R	+|+	1|2	0|0	TRIP10|TRIP10	6702206|6702206	0.171000|0.171000	0.23029|0.23029	0.963000|0.963000	0.40424|0.40424	0.150000|0.150000	0.21749|0.21749	2.065000|2.065000	0.41442|0.41442	2.678000|2.678000	0.91216|0.91216	0.305000|0.305000	0.20034|0.20034	GAG|CGA		0.612	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2		
C19orf43	79002	broad.mit.edu	37	19	12841881	12841881	+	Splice_Site	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:12841881A>G	ENST00000242784.4	-	3	542	c.425T>C	c.(424-426)gTa>gCa	p.V142A	C19orf43_ENST00000588213.1_3'UTR|C19orf43_ENST00000592273.1_Splice_Site_p.V116A	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	142										endometrium(2)|large_intestine(2)	4						ACTTGTTAATACCTGTGGAAA	0.547																																						uc002muu.2																			0					0						c.(424-426)GTA>GCA		hypothetical protein MGC2803							118.0	106.0	110.0					19																	12841881		2203	4300	6503	SO:0001630	splice_region_variant	79002							g.chr19:12841881A>G	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.424-1T>C	19.37:g.12841881A>G							p.V142A	NM_024038	NP_076943	Q9BQ61	CS043_HUMAN			3	483	-			142						Missense_Mutation	SNP	ENST00000242784.4	37	c.425T>C	CCDS12279.1	.	.	.	.	.	.	.	.	.	.	A	8.817	0.936676	0.18206	.	.	ENSG00000123144	ENST00000242784	.	.	.	4.47	4.47	0.54385	.	0.327528	0.27266	N	0.020147	T	0.42017	0.1184	L	0.32530	0.975	0.80722	D	1	B	0.24576	0.106	B	0.20184	0.028	T	0.24941	-1.0146	9	0.07813	T	0.8	-4.4004	12.7471	0.57287	1.0:0.0:0.0:0.0	.	142	Q9BQ61	CS043_HUMAN	A	142	.	ENSP00000242784:V142A	V	-	2	0	C19orf43	12702881	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.209000	0.58493	1.640000	0.50565	0.482000	0.46254	GTA		0.547	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038	Missense_Mutation
CYP4F12	66002	broad.mit.edu	37	19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:15807863C>T	ENST00000550308.1	+	13	1923	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R515W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	515					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCTTTGGCTGCGGGTGGAGCC	0.567																																						uc002nbl.2																			0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1543-1545)CGG>TGG		cytochrome P450, family 4, subfamily F,							58.0	64.0	62.0					19																	15807863		2187	4299	6486	SO:0001583	missense	66002							g.chr19:15807863C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1543C>T	19.37:g.15807863C>T	ENSP00000448998:p.Arg515Trp						p.R515W	NM_023944	NP_076433					13	1604	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1543C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	7.143	0.582198	0.13749	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.80653	-1.4;-1.4	2.31	1.27	0.21489	.	0.293900	0.27554	U	0.018856	T	0.80363	0.4609	M	0.88640	2.97	0.30998	N	0.720611	B	0.25772	0.134	B	0.27715	0.082	T	0.77811	-0.2449	10	0.59425	D	0.04	.	6.9546	0.24563	0.0:0.8482:0.0:0.1518	.	515	Q9HCS2	CP4FC_HUMAN	W	515	ENSP00000448998:R515W;ENSP00000321821:R515W	ENSP00000321821:R515W	R	+	1	2	CYP4F12	15668863	0.978000	0.34361	0.452000	0.26994	0.009000	0.06853	2.488000	0.45276	0.529000	0.28599	0.313000	0.20887	CGG		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
USP29	57663	broad.mit.edu	37	19	57641232	57641232	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:57641232A>G	ENST00000254181.4	+	4	1643	c.1189A>G	c.(1189-1191)Act>Gct	p.T397A	USP29_ENST00000598197.1_Missense_Mutation_p.T397A	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	397	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTTTGAATACTGGGAAAGA	0.383																																						uc002qny.2																			0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1189-1191)ACT>GCT		ubiquitin specific peptidase 29							81.0	75.0	77.0					19																	57641232		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641232A>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1189A>G	19.37:g.57641232A>G	ENSP00000254181:p.Thr397Ala						p.T397A	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1545	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	397						Missense_Mutation	SNP	ENST00000254181.4	37	c.1189A>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	2.399	-0.338004	0.05278	.	.	ENSG00000131864	ENST00000254181	T	0.50001	0.76	2.69	-0.682	0.11339	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.907134	0.08951	N	0.870138	T	0.41073	0.1143	L	0.50333	1.59	0.09310	N	1	P	0.34997	0.479	B	0.38921	0.285	T	0.34601	-0.9822	10	0.34782	T	0.22	-2.067	6.6554	0.22984	0.6254:0.0:0.3746:0.0	.	397	Q9HBJ7	UBP29_HUMAN	A	397	ENSP00000254181:T397A	ENSP00000254181:T397A	T	+	1	0	USP29	62333044	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	1.354000	0.34056	-0.271000	0.09272	0.482000	0.46254	ACT		0.383	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
KIDINS220	57498	broad.mit.edu	37	2	8872006	8872006	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:8872006T>C	ENST00000256707.3	-	30	4341	c.4160A>G	c.(4159-4161)tAt>tGt	p.Y1387C	KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y1288C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y1368C|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y1368C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1387					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTATTCTCTATAGGCATCTCT	0.463																																						uc002qzc.2																			0				ovary(3)|central_nervous_system(1)	4						c.(4159-4161)TAT>TGT		kinase D-interacting substrate of 220 kDa							108.0	105.0	106.0					2																	8872006		1848	4100	5948	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8872006T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4160A>G	2.37:g.8872006T>C	ENSP00000256707:p.Tyr1387Cys					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C	p.Y1387C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	4342	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1387			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4160A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163535	0.78226	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.81247	-1.39;-1.41;-1.47;-1.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.85630	0.5741	L	0.36672	1.1	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87188	0.2232	10	0.87932	D	0	.	16.2644	0.82568	0.0:0.0:0.0:1.0	.	1288;1387;241	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	C	1387;1368;1288;1368	ENSP00000256707:Y1387C;ENSP00000411849:Y1368C;ENSP00000414923:Y1288C;ENSP00000418974:Y1368C	ENSP00000256707:Y1387C	Y	-	2	0	KIDINS220	8789457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.499000	0.81566	2.244000	0.73946	0.528000	0.53228	TAT		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
DPYSL5	56896	broad.mit.edu	37	2	27165614	27165616	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27165614_27165616delAGA	ENST00000288699.6	+	11	1594_1596	c.1436_1438delAGA	c.(1435-1440)gagaag>gag	p.K480del	DPYSL5_ENST00000401478.1_In_Frame_Del_p.K480del	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	480					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGAGAGAGAAGGTGAGGTG	0.557											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rhu.3																			0				ovary(2)	2						c.(1435-1440)GAGAAG>GAG		dihydropyrimidinase-like 5																																				SO:0001651	inframe_deletion	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27165614_27165616delAGA	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1436_1438delAGA	2.37:g.27165614_27165616delAGA	ENSP00000288699:p.Lys480del		OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_uc002rhv.3_In_Frame_Del_p.K480del	p.K480del	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			11	1594_1596	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		480					Q8TCL6|Q9NQC4|Q9NRY9	In_Frame_Del	DEL	ENST00000288699.6	37	c.1436_1438delAGA	CCDS1730.1																																																																																				0.557	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134	
TMEM214	54867	broad.mit.edu	37	2	27258019	27258019	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27258019T>A	ENST00000238788.9	+	3	430	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.L123Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	123					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGCAGACCTGCAGAAGGAA	0.537																																						uc002ria.3																			0					0						c.(367-369)CTG>CAG		transmembrane protein 214 isoform 1							68.0	69.0	69.0					2																	27258019		1992	4190	6182	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27258019T>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.368T>A	2.37:g.27258019T>A	ENSP00000238788:p.Leu123Gln					TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.L123Q	p.L123Q	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			3	478	+			123					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.368T>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756308	0.89843	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.87334	-2.24;-2.24	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	D	0.92535	0.7629	M	0.65498	2.005	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.99	D	0.93326	0.6697	10	0.87932	D	0	-8.5843	15.3575	0.74440	0.0:0.0:0.0:1.0	.	123;123	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	Q	123	ENSP00000238788:L123Q;ENSP00000384417:L123Q	ENSP00000238788:L123Q	L	+	2	0	TMEM214	27111523	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.292000	0.78731	2.107000	0.64212	0.459000	0.35465	CTG		0.537	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	
EVA1A	84141	broad.mit.edu	37	2	75745200	75745200	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:75745200C>A	ENST00000233712.1	-	3	504	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000410071.1_Missense_Mutation_p.A23S|EVA1A_ENST00000393913.3_Missense_Mutation_p.A23S|EVA1A_ENST00000410113.1_Missense_Mutation_p.A23S|EVA1A_ENST00000490746.1_5'UTR	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	23	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											AAGGAATAGGCCGCTAGGATG	0.612																																						uc002sni.2																			0					0						c.(67-69)GCC>TCC		family with sequence similarity 176, member A							116.0	104.0	108.0					2																	75745200		2203	4300	6503	SO:0001583	missense	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75745200C>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.67G>T	2.37:g.75745200C>A	ENSP00000233712:p.Ala23Ser					FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S	p.A23S	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN			3	545	-			23			Necessary for the localization and biological activity.		D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.67G>T	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743513	0.30865	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.11	2.21	0.28008	.	0.250459	0.45867	D	0.000334	T	0.41834	0.1176	M	0.68952	2.095	0.32965	D	0.521614	B	0.12013	0.005	B	0.12156	0.007	T	0.45527	-0.9255	10	0.51188	T	0.08	7.1197	6.6671	0.23047	0.0:0.6781:0.0:0.3219	.	23	Q9H8M9	F176A_HUMAN	S	23	ENSP00000377490:A23S;ENSP00000233712:A23S;ENSP00000386435:A23S;ENSP00000386930:A23S;ENSP00000398249:A23S;ENSP00000388105:A23S	ENSP00000233712:A23S	A	-	1	0	FAM176A	75598708	0.716000	0.27956	0.299000	0.25016	0.721000	0.41392	0.953000	0.29162	0.231000	0.21079	0.543000	0.68304	GCC		0.612	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181	
SEPT10	151011	broad.mit.edu	37	2	110350668	110350668	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:110350668G>C	ENST00000397712.2	-	2	437	c.59C>G	c.(58-60)aCa>aGa	p.T20R	SEPT10_ENST00000356688.4_Missense_Mutation_p.T20R|SEPT10_ENST00000397714.2_Intron|SEPT10_ENST00000334001.6_5'UTR|AC011753.5_ENST00000425576.1_RNA|SEPT10_ENST00000415095.1_Missense_Mutation_p.T20R|SEPT10_ENST00000545389.1_Missense_Mutation_p.T20R|SEPT10_ENST00000437928.1_Missense_Mutation_p.T5R	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	20					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATACAAGTTGTTTTCGTTGC	0.323																																						uc002tew.2																			0					0						c.(58-60)ACA>AGA		septin 10 isoform 1							123.0	118.0	119.0					2																	110350668		1865	4107	5972	SO:0001583	missense	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110350668G>C	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.59C>G	2.37:g.110350668G>C	ENSP00000380824:p.Thr20Arg					SEPT10_uc010ywu.1_Missense_Mutation_p.T20R|SEPT10_uc002tex.2_Intron|SEPT10_uc002tey.2_Missense_Mutation_p.T20R|SEPT10_uc010ywv.1_5'UTR	p.T20R	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			2	438	-			20					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.59C>G	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007854	0.19199	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000423520;ENST00000411469;ENST00000442746	T;T;T;T;T;T	0.56941	0.62;0.7;0.7;0.45;0.7;0.43	3.67	1.87	0.25490	.	0.660669	0.13414	N	0.389694	T	0.29458	0.0734	N	0.19112	0.55	0.09310	N	1	P;B;B	0.41041	0.736;0.294;0.17	B;B;B	0.33196	0.159;0.036;0.052	T	0.08638	-1.0712	10	0.41790	T	0.15	.	5.7735	0.18267	0.2436:0.0:0.7564:0.0	.	20;20;20	B7Z277;B5ME97;Q9P0V9	.;.;SEP10_HUMAN	R	20;20;5;20;20;20;5;11	ENSP00000349116:T20R;ENSP00000380824:T20R;ENSP00000407790:T5R;ENSP00000439364:T20R;ENSP00000396728:T20R;ENSP00000416597:T20R	ENSP00000349116:T20R	T	-	2	0	SEPT10	109707957	0.117000	0.22190	0.009000	0.14445	0.253000	0.25986	1.391000	0.34475	0.548000	0.28955	-0.136000	0.14681	ACA		0.323	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	
NEB	4703	broad.mit.edu	37	2	152518698	152518698	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:152518698T>C	ENST00000172853.10	-	46	6068	c.5921A>G	c.(5920-5922)gAc>gGc	p.D1974G	NEB_ENST00000603639.1_Missense_Mutation_p.D1974G|NEB_ENST00000427231.2_Missense_Mutation_p.D1974G|NEB_ENST00000397345.3_Missense_Mutation_p.D1974G|NEB_ENST00000604864.1_Missense_Mutation_p.D1974G|NEB_ENST00000409198.1_Missense_Mutation_p.D1974G			P20929	NEBU_HUMAN	nebulin	1974					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTCATCGAGTCCATGAGTGT	0.413																																						uc010fnx.2																			0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(5920-5922)GAC>GGC		nebulin isoform 3							108.0	104.0	106.0					2																	152518698		1918	4126	6044	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152518698T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5921A>G	2.37:g.152518698T>C	ENSP00000172853:p.Asp1974Gly						p.D1974G	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	46	6112	-			1974			Nebulin 52.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5921A>G		.	.	.	.	.	.	.	.	.	.	T	28.8	4.953375	0.92660	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.87557	0.2469	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1974	P20929	NEBU_HUMAN	G	1974	ENSP00000386259:D1974G;ENSP00000380505:D1974G;ENSP00000416578:D1974G;ENSP00000172853:D1974G	ENSP00000172853:D1974G	D	-	2	0	NEB	152226944	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.986000	0.88173	2.367000	0.80283	0.528000	0.53228	GAC		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
CERS6	253782	broad.mit.edu	37	2	169404150	169404150	+	Missense_Mutation	SNP	A	A	G	rs372014490		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:169404150A>G	ENST00000305747.6	+	2	802	c.215A>G	c.(214-216)aAt>aGt	p.N72S	CERS6_ENST00000392687.4_Missense_Mutation_p.N72S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	72					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ATTCAGGCCAATGGACCACAA	0.413																																						uc002ueb.1																			0				skin(1)	1						c.(214-216)AAT>AGT		longevity assurance homolog 6		A	SER/ASN	0,4406		0,0,2203	104.0	87.0	93.0		215	-1.0	1.0	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	CERS6	NM_203463.1	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	72/385	169404150	1,13005	2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169404150A>G	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.215A>G	2.37:g.169404150A>G	ENSP00000306579:p.Asn72Ser					LASS6_uc002uec.1_Missense_Mutation_p.N72S	p.N72S	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN			2	339	+			72			Cytoplasmic (Potential).|Homeobox.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.215A>G	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	A	4.474	0.087774	0.08583	0.0	1.16E-4	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.21191	2.02;2.02	5.68	-1.04	0.10068	.	0.167448	0.64402	N	0.000004	T	0.06508	0.0167	N	0.03016	-0.435	0.54753	D	0.999982	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.42565	-0.9444	10	0.06891	T	0.86	-26.2634	10.8501	0.46765	0.5237:0.0:0.4763:0.0	.	72;72	Q32M63;Q6ZMG9	.;CERS6_HUMAN	S	72	ENSP00000306579:N72S;ENSP00000376453:N72S	ENSP00000306579:N72S	N	+	2	0	CERS6	169112396	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	0.887000	0.28254	-0.413000	0.07507	-0.911000	0.02809	AAT		0.413	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	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)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|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)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						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_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		Substrate.	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		
ZNF142	7701	broad.mit.edu	37	2	219521105	219521105	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:219521105C>T	ENST00000449707.1	-	4	469	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF142_ENST00000411696.2_Silent_p.E16E	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCCATCCATCTCCCCGGTGC	0.582																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2																			0				breast(2)|ovary(1)|skin(1)	4						c.(46-48)GAG>GAA		zinc finger protein 142							55.0	61.0	59.0					2																	219521105		1974	4143	6117	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219521105C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.48G>A	2.37:g.219521105C>T						ZNF142_uc002vil.2_5'UTR|ZNF142_uc010fvt.2_5'UTR|ZNF142_uc002vim.2_5'UTR|BCS1L_uc002vio.2_5'Flank	p.E16E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	484	-		Renal(207;0.0474)	16					Q92510	Silent	SNP	ENST00000449707.1	37	c.48G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	6.012	0.370536	0.11352	.	.	ENSG00000115568	ENST00000440934	.	.	.	4.69	2.65	0.31530	.	.	.	.	.	T	0.55940	0.1952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-1.7294	7.563	0.27862	0.0:0.7248:0.1728:0.1024	.	.	.	.	N	8	.	.	D	-	1	0	ZNF142	219229349	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	0.691000	0.25467	1.139000	0.42245	0.563000	0.77884	GAT		0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
MYH7B	57644	broad.mit.edu	37	20	33572918	33572918	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:33572918C>T	ENST00000262873.7	+	11	1009	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	264	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGCATCCGCGGATATTGAC	0.642																																						uc002xbi.1																			0				ovary(1)|breast(1)	2						c.(916-918)GCG>GTG		myosin, heavy polypeptide 7B, cardiac muscle,							62.0	67.0	65.0					20																	33572918		2076	4195	6271	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33572918C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.917C>T	20.37:g.33572918C>T	ENSP00000262873:p.Ala306Val						p.A306V	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		11	1009	+			264			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.917C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535911	0.85812	.	.	ENSG00000078814	ENST00000262873	T	0.79247	-1.25	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.209200	0.24067	N	0.041856	D	0.91324	0.7264	H	0.96239	3.79	0.80722	D	1	D	0.67145	0.996	P	0.61592	0.891	D	0.93493	0.6837	10	0.56958	D	0.05	.	18.9917	0.92794	0.0:1.0:0.0:0.0	.	264	A7E2Y1	MYH7B_HUMAN	V	306	ENSP00000262873:A306V	ENSP00000262873:A306V	A	+	2	0	MYH7B	33036579	1.000000	0.71417	0.170000	0.22879	0.966000	0.64601	6.056000	0.71111	2.555000	0.86185	0.655000	0.94253	GCG		0.642	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
PTPRT	11122	broad.mit.edu	37	20	40911144	40911144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:40911144G>A	ENST00000373187.1	-	13	2160	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	PTPRT_ENST00000373198.4_Missense_Mutation_p.R721C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R721C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R721C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R721C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R721C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R721C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	721	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGCCAGACGAACACAGTTG	0.348																																						uc002xkg.2																			0				skin(8)|ovary(7)|lung(5)	20						c.(2161-2163)CGT>TGT		protein tyrosine phosphatase, receptor type, T							122.0	111.0	115.0					20																	40911144		1880	4113	5993	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40911144G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2161C>T	20.37:g.40911144G>A	ENSP00000362283:p.Arg721Cys					PTPRT_uc010ggj.2_Missense_Mutation_p.R721C	p.R721C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			13	2345	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	721			Extracellular (Potential).|Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2161C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645826	0.67358	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.39592	1.21;1.2;1.2;1.1;1.07;1.23;1.22	5.34	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.68239	-0.5461	10	0.87932	D	0	.	11.4502	0.50147	0.0:0.0:0.8216:0.1784	.	721;721	O14522-1;O14522	.;PTPRT_HUMAN	C	721	ENSP00000362286:R721C;ENSP00000362283:R721C;ENSP00000362289:R721C;ENSP00000348408:R721C;ENSP00000362294:R721C;ENSP00000362280:R721C;ENSP00000362297:R721C	ENSP00000348408:R721C	R	-	1	0	PTPRT	40344558	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.367000	0.52350	2.779000	0.95612	0.655000	0.94253	CGT		0.348	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
KCNE1	3753	broad.mit.edu	37	21	35821746	35821746	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:35821746G>T	ENST00000337385.3	-	3	562	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	KCNE1_ENST00000399284.1_Missense_Mutation_p.L63M|KCNE1_ENST00000432085.1_Missense_Mutation_p.L63M|KCNE1_ENST00000416357.2_Missense_Mutation_p.L63M|KCNE1_ENST00000399289.3_Missense_Mutation_p.L63M|KCNE1_ENST00000399286.2_Missense_Mutation_p.L63M	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	63					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGTAGCTCAGCATGATGCCC	0.592																																						uc010gmp.2																			0				ovary(2)	2						c.(187-189)CTG>ATG		potassium voltage-gated channel, Isk-related	Indapamide(DB00808)						94.0	74.0	81.0					21																	35821746		2203	4300	6503	SO:0001583	missense	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821746G>T	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.187C>A	21.37:g.35821746G>T	ENSP00000337255:p.Leu63Met					KCNE1_uc002ytz.2_Missense_Mutation_p.L63M|KCNE1_uc010gmq.2_Missense_Mutation_p.L63M|KCNE1_uc010gmr.2_Missense_Mutation_p.L63M|KCNE1_uc010gms.2_Missense_Mutation_p.L63M|KCNE1_uc002yua.2_RNA	p.L63M	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN			2	617	-			63			Helical; (Potential).		A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	c.187C>A	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090927	0.55968	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.16	4.27	0.50696	.	0.259335	0.29321	N	0.012492	D	0.95389	0.8503	M	0.85859	2.78	0.34164	D	0.668948	B	0.31209	0.313	P	0.44860	0.462	D	0.97117	0.9808	10	0.59425	D	0.04	-18.5755	7.133	0.25512	0.1544:0.1426:0.703:0.0	.	63	P15382	KCNE1_HUMAN	M	63	ENSP00000382228:L63M;ENSP00000337255:L63M;ENSP00000412498:L63M;ENSP00000382226:L63M;ENSP00000416258:L63M;ENSP00000382225:L63M	ENSP00000337255:L63M	L	-	1	2	KCNE1	34743616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.436000	0.34980	2.398000	0.81561	0.591000	0.81541	CTG		0.592	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1		
KRTAP10-2	386679	broad.mit.edu	37	21	45971183	45971183	+	Silent	SNP	C	C	G	rs587703858		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:45971183C>G	ENST00000391621.1	-	1	205	c.159G>C	c.(157-159)gtG>gtC	p.V53V	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	53	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						AGGGGCTGGACACACAGCTCA	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		18881	0.0		0.0	False		,,,				2504	0.001					uc002zfi.1																			0				large_intestine(1)	1						c.(157-159)GTG>GTC		keratin associated protein 10-2							28.0	34.0	32.0					21																	45971183		2199	4295	6494	SO:0001819	synonymous_variant	386679					keratin filament		g.chr21:45971183C>G	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.159G>C	21.37:g.45971183C>G						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V53V	NM_198693	NP_941966	P60368	KR102_HUMAN			1	206	-			53			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Silent	SNP	ENST00000391621.1	37	c.159G>C	CCDS42955.1																																																																																				0.697	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
OSBP2	23762	broad.mit.edu	37	22	31137202	31137202	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:31137202G>A	ENST00000332585.6	+	2	803	c.699G>A	c.(697-699)gcG>gcA	p.A233A	OSBP2_ENST00000446658.2_Silent_p.A233A|OSBP2_ENST00000407373.1_Silent_p.A60A|OSBP2_ENST00000382310.3_Silent_p.A233A|OSBP2_ENST00000403222.3_Silent_p.A68A	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	233	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTCCACCGCGCACATTGACA	0.557																																						uc003aiy.1																			0				breast(1)|skin(1)	2						c.(697-699)GCG>GCA		oxysterol binding protein 2 isoform a							52.0	54.0	54.0					22																	31137202		2032	4162	6194	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31137202G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.699G>A	22.37:g.31137202G>A						OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A	p.A233A	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			2	803	+			233			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.699G>A	CCDS43002.1																																																																																				0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758	
TMPRSS6	164656	broad.mit.edu	37	22	37492125	37492125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37492125delC	ENST00000346753.3	-	5	553	c.437delG	c.(436-438)ggafs	p.G146fs	TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.G146fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.G137fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.G137fs|TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.G137fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	146	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTGAGGGGTCCCTCCCTAAG	0.622																																						uc003aqs.1																			0				breast(4)|ovary(1)|skin(1)	6						c.(436-438)GGAfs		transmembrane protease, serine 6							37.0	40.0	39.0					22																	37492125		2203	4300	6503	SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37492125delC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.437delG	22.37:g.37492125delC	ENSP00000334962:p.Gly146fs					TMPRSS6_uc003aqt.1_Frame_Shift_Del_p.G137fs|TMPRSS6_uc003aqu.2_Frame_Shift_Del_p.G137fs	p.G146fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			5	551	-			146			Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	c.437delG	CCDS13941.1																																																																																				0.622	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
CYTH4	27128	broad.mit.edu	37	22	37707507	37707507	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37707507C>T	ENST00000248901.6	+	11	1083	c.896C>T	c.(895-897)cCa>cTa	p.P299L		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	299	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACAAGGAGCCACGGGGAATT	0.582																																						uc003arf.2																			0				ovary(2)	2						c.(895-897)CCA>CTA		cytohesin 4							64.0	63.0	63.0					22																	37707507		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37707507C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.896C>T	22.37:g.37707507C>T	ENSP00000248901:p.Pro299Leu					CYTH4_uc011amw.1_Missense_Mutation_p.P242L|CYTH4_uc010gxe.2_Intron	p.P299L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			11	1012	+			299			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.896C>T	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553258	0.86127	.	.	ENSG00000100055	ENST00000248901	T	0.21932	1.98	4.41	4.41	0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	T	0.58109	-0.7694	10	0.56958	D	0.05	.	16.1429	0.81539	0.0:1.0:0.0:0.0	.	299	Q9UIA0	CYH4_HUMAN	L	299	ENSP00000248901:P299L	ENSP00000248901:P299L	P	+	2	0	CYTH4	36037453	1.000000	0.71417	0.940000	0.37924	0.953000	0.61014	7.696000	0.84270	2.170000	0.68504	0.563000	0.77884	CCA		0.582	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1		
DDX17	10521	broad.mit.edu	37	22	38890068	38890069	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:38890068_38890069delTT	ENST00000396821.3	-	9	1381_1382	c.1282_1283delAA	c.(1282-1284)aagfs	p.K428fs	DDX17_ENST00000381633.3_Frame_Shift_Del_p.K349fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	428	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACAGCGTCTCTTTGTCTCCACA	0.386																																					Ovarian(55;1085 1454 6392 21425)	uc003avy.3																			0				skin(3)|upper_aerodigestive_tract(1)	4						c.(1282-1284)AAGfs		DEAD box polypeptide 17 isoform 3																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38890068_38890069delTT	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1282_1283delAA	22.37:g.38890068_38890069delTT	ENSP00000380033:p.Lys428fs					DDX17_uc003avx.3_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.1_Frame_Shift_Del_p.K341fs	p.K428fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			9	1385_1386	-	Melanoma(58;0.0286)		349			Helicase C-terminal.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Del	DEL	ENST00000396821.3	37	c.1282_1283delAA	CCDS46706.1																																																																																				0.386	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881	
MCHR1	2847	broad.mit.edu	37	22	41077826	41077826	+	Missense_Mutation	SNP	G	G	A	rs199697488		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:41077826G>A	ENST00000249016.4	+	2	1859	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MCHR1_ENST00000381433.2_Missense_Mutation_p.R262H|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	388					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGACGTTCCGCAAACGCTTG	0.572																																						uc003ayz.2																			0					0						c.(1162-1164)CGC>CAC		G protein-coupled receptor 24							111.0	90.0	97.0					22																	41077826		2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077826G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.1163G>A	22.37:g.41077826G>A	ENSP00000249016:p.Arg388His					MCHR1_uc003aza.2_Missense_Mutation_p.R277H|uc003azb.1_RNA	p.R388H	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	1431	+			388			Cytoplasmic (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.1163G>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209252	0.79240	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.58358	0.34;0.34	5.4	5.4	0.78164	.	0.101947	0.64402	D	0.000008	T	0.57286	0.2043	N	0.19112	0.55	0.41286	D	0.986946	D	0.76494	0.999	P	0.62184	0.899	T	0.62955	-0.6744	10	0.87932	D	0	.	17.0403	0.86487	0.0:0.0:1.0:0.0	.	388	Q99705	MCHR1_HUMAN	H	388;262	ENSP00000249016:R388H;ENSP00000370841:R262H	ENSP00000249016:R388H	R	+	2	0	MCHR1	39407772	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.226000	0.58606	2.698000	0.92095	0.655000	0.94253	CGC		0.572	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297	
NUP210	23225	broad.mit.edu	37	3	13432743	13432743	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:13432743C>T	ENST00000254508.5	-	4	583	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	167					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAACCTGTCCGCCTCGGAGT	0.582																																						uc003bxv.1																			0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(499-501)GCG>GCA		nucleoporin 210 precursor							114.0	89.0	97.0					3																	13432743		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13432743C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.501G>A	3.37:g.13432743C>T							p.A167A	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			4	584	-	all_neural(104;0.187)		167			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.501G>A	CCDS33704.1																																																																																				0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
MRPS25	64432	broad.mit.edu	37	3	15094113	15094115	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:15094113_15094115delCTC	ENST00000253686.2	-	4	495_497	c.355_357delGAG	c.(355-357)gagdel	p.E119del	MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_In_Frame_Del_p.89_90RR>R	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	119						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GCTGCTTTTTCTCCTCCTCCTCT	0.586																																						uc003bzl.2																			0					0						c.(355-357)GAGdel		mitochondrial ribosomal protein S25				1,4265		0,1,2132						4.7	0.8			140	1,8253		0,1,4126	no	coding	MRPS25	NM_022497.3		0,2,6258	A1A1,A1R,RR		0.0121,0.0234,0.016				2,12518				SO:0001651	inframe_deletion	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094113_15094115delCTC	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.355_357delGAG	3.37:g.15094122_15094124delCTC	ENSP00000253686:p.Glu119del					MRPS25_uc011avl.1_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron	p.E119del	NM_022497	NP_071942	P82663	RT25_HUMAN			4	470_472	-			119					B4DFJ5|B4DQG6|Q9H7P5	In_Frame_Del	DEL	ENST00000253686.2	37	c.355_357delGAG	CCDS2622.1																																																																																				0.586	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497	
NICN1	84276	broad.mit.edu	37	3	49463788	49463788	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:49463788T>G	ENST00000273598.3	-	2	292	c.206A>C	c.(205-207)cAc>cCc	p.H69P	NICN1_ENST00000436744.2_Missense_Mutation_p.H69P|NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	69						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGGTGTGTGTGCTGAGGT	0.498																																						uc003cwz.1																			0					0						c.(205-207)CAC>CCC		nicolin 1							98.0	82.0	87.0					3																	49463788		2203	4300	6503	SO:0001583	missense	84276					microtubule|nucleus		g.chr3:49463788T>G	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.206A>C	3.37:g.49463788T>G	ENSP00000273598:p.His69Pro					NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.H69P	p.H69P	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	291	-			69					Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	37	c.206A>C	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	T	8.060	0.767916	0.15983	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.24538	1.85;1.85	5.3	5.3	0.74995	.	0.211030	0.40144	N	0.001164	T	0.33206	0.0855	L	0.34521	1.04	0.25069	N	0.991006	D;D	0.64830	0.987;0.994	P;P	0.56865	0.6;0.808	T	0.11991	-1.0565	10	0.45353	T	0.12	-15.6021	13.1802	0.59649	0.0:0.0:0.0:1.0	.	69;69	B4DX77;Q9BSH3	.;NICN1_HUMAN	P	69	ENSP00000273598:H69P;ENSP00000402335:H69P	ENSP00000273598:H69P	H	-	2	0	NICN1	49438792	0.577000	0.26708	0.092000	0.20876	0.016000	0.09150	1.022000	0.30052	2.012000	0.59069	0.533000	0.62120	CAC		0.498	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316	
TMEM115	11070	broad.mit.edu	37	3	50396188	50396190	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:50396188_50396190delAGA	ENST00000266025.3	-	1	851_853	c.305_307delTCT	c.(304-309)ttctca>tca	p.F102del	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	102					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCACCACTGAGAAGAAGATGAG	0.601																																						uc003dan.1																			0					0						c.(304-309)TTCTCA>TCA		PL6 protein																																				SO:0001651	inframe_deletion	11070				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		g.chr3:50396188_50396190delAGA	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.305_307delTCT	3.37:g.50396194_50396196delAGA	ENSP00000266025:p.Phe102del						p.F102del	NM_007024	NP_008955	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	750_752	-			102			Helical; (Potential).		A2IDB7|O14568|Q6IAY4|Q9UIX3	In_Frame_Del	DEL	ENST00000266025.3	37	c.305_307delTCT	CCDS2828.1																																																																																				0.601	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024	
C3orf17	25871	broad.mit.edu	37	3	112724550	112724550	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:112724550T>C	ENST00000314400.5	-	9	1728	c.1537A>G	c.(1537-1539)Atg>Gtg	p.M513V	C3orf17_ENST00000383675.2_Missense_Mutation_p.M443V|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Missense_Mutation_p.M377V	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	513					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATGACAGGCATTGAAACTCCA	0.388																																						uc003dzr.2																			0					0						c.(1537-1539)ATG>GTG		hypothetical protein LOC25871							157.0	148.0	151.0					3																	112724550		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112724550T>C	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1537A>G	3.37:g.112724550T>C	ENSP00000320251:p.Met513Val					GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.M138V|C3orf17_uc011bhz.1_Missense_Mutation_p.M138V|C3orf17_uc010hqh.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.2_Missense_Mutation_p.M416V|C3orf17_uc003dzs.2_Missense_Mutation_p.M377V|C3orf17_uc010hqg.2_Missense_Mutation_p.M338V|C3orf17_uc011bia.1_Missense_Mutation_p.M310V|C3orf17_uc003dzu.2_Missense_Mutation_p.M442V|C3orf17_uc011bib.1_Missense_Mutation_p.M402V|C3orf17_uc011bic.1_Missense_Mutation_p.M346V|C3orf17_uc011bid.1_RNA	p.M513V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			9	1598	-			513					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.1537A>G	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	5.508	0.278619	0.10458	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.28895	1.59;1.59;1.59	5.18	-3.45	0.04781	.	2.020510	0.01969	N	0.043917	T	0.11495	0.0280	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.15378	-1.0439	10	0.27082	T	0.32	1.014	5.3811	0.16192	0.0:0.3139:0.2693:0.4168	.	402;310;443;513	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	V	513;443;160;377	ENSP00000320251:M513V;ENSP00000373173:M443V;ENSP00000377438:M377V	ENSP00000320251:M513V	M	-	1	0	C3orf17	114207240	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.257000	0.08745	-0.666000	0.05310	-0.274000	0.10170	ATG		0.388	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412	
CCDC37	348807	broad.mit.edu	37	3	126138549	126138549	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:126138549G>A	ENST00000352312.1	+	9	900	c.801G>A	c.(799-801)tcG>tcA	p.S267S	CCDC37_ENST00000393425.1_Silent_p.S268S|CCDC37_ENST00000505024.1_Silent_p.S268S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	267										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACAAGCTGTCGCCCAAGGAGT	0.488																																						uc003eiu.1																			0				ovary(1)|skin(1)	2						c.(799-801)TCG>TCA		coiled-coil domain containing 37							71.0	74.0	73.0					3																	126138549		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126138549G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.801G>A	3.37:g.126138549G>A						CCDC37_uc010hsg.1_Silent_p.S268S	p.S267S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	9	900	+			267					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.801G>A	CCDS3037.1																																																																																				0.488	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
CP	1356	broad.mit.edu	37	3	148903188	148903188	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:148903188C>T	ENST00000264613.6	-	12	2385	c.2123G>A	c.(2122-2124)gGc>gAc	p.G708D	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	708	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGCTTCATGCCGCCTGTGTA	0.468																																						uc003ewy.3																			0				ovary(1)	1						c.(2122-2124)GGC>GAC		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						145.0	135.0	138.0					3																	148903188		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903188C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2123G>A	3.37:g.148903188C>T	ENSP00000264613:p.Gly708Asp					CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G489D|CP_uc003ewz.2_Missense_Mutation_p.G708D	p.G708D	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2376	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	708			Plastocyanin-like 4.|F5/8 type A 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2123G>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734938	0.89482	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99981	-10.34;-10.34	5.63	5.63	0.86233	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99984	0.9995	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99264	1.0891	10	0.62326	D	0.03	-20.8732	19.6942	0.96016	0.0:1.0:0.0:0.0	.	708;708;708	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	D	708;491	ENSP00000264613:G708D;ENSP00000420545:G491D	ENSP00000264613:G708D	G	-	2	0	CP	150385878	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.989000	0.76219	2.651000	0.90000	0.455000	0.32223	GGC		0.468	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
VEPH1	79674	broad.mit.edu	37	3	157213090	157213090	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:157213090C>A	ENST00000362010.2	-	2	356	c.49G>T	c.(49-51)Gct>Tct	p.A17S	VEPH1_ENST00000543418.1_Missense_Mutation_p.A17S|VEPH1_ENST00000537559.1_Missense_Mutation_p.A17S|VEPH1_ENST00000392832.2_Missense_Mutation_p.A17S|VEPH1_ENST00000392833.2_Missense_Mutation_p.A17S|VEPH1_ENST00000468233.1_Missense_Mutation_p.A17S|VEPH1_ENST00000494677.1_Missense_Mutation_p.A17S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	17						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGTCCCCAGCTCGTGAAAGA	0.413																																						uc003fbj.1																			0				breast(3)|ovary(1)|lung(1)	5						c.(49-51)GCT>TCT		ventricular zone expressed PH domain homolog 1							153.0	154.0	153.0					3																	157213090		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157213090C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.49G>T	3.37:g.157213090C>A	ENSP00000354919:p.Ala17Ser					VEPH1_uc003fbk.1_Missense_Mutation_p.A17S|VEPH1_uc010hvu.1_Missense_Mutation_p.A17S|VEPH1_uc003fbm.2_Missense_Mutation_p.A17S|VEPH1_uc003fbn.2_Missense_Mutation_p.A17S	p.A17S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		2	366	-			17					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.49G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845540	0.91197	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299;ENST00000489602	T;T;T;T	0.13901	2.55;2.64;2.55;2.64	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.994	T	0.11084	-1.0602	10	0.72032	D	0.01	-23.9413	19.3422	0.94347	0.0:1.0:0.0:0.0	.	17;17;17	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	S	17	ENSP00000376578:A17S;ENSP00000354919:A17S;ENSP00000446258:A17S;ENSP00000376577:A17S	ENSP00000354919:A17S	A	-	1	0	VEPH1	158695784	1.000000	0.71417	0.932000	0.37286	0.998000	0.95712	7.535000	0.82014	2.567000	0.86603	0.655000	0.94253	GCT		0.413	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
TP63	8626	broad.mit.edu	37	3	189607256	189607256	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:189607256A>G	ENST00000264731.3	+	12	1724	c.1635A>G	c.(1633-1635)acA>acG	p.T545T	TP63_ENST00000392463.2_Silent_p.T451T|TP63_ENST00000354600.5_Silent_p.T451T|TP63_ENST00000392461.3_Intron|TP63_ENST00000456148.1_Silent_p.T447T|TP63_ENST00000382063.4_Silent_p.T460T|TP63_ENST00000440651.2_Silent_p.T541T|TP63_ENST00000392460.3_Silent_p.T545T|TP63_ENST00000449992.1_Silent_p.T366T|TP63_ENST00000320472.5_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	545	SAM.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGTATCCCACAGATTGCAGCA	0.597										HNSCC(45;0.13)																												uc003fry.2																			0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1633-1635)ACA>ACG		tumor protein p63 isoform 1							119.0	105.0	109.0					3																	189607256		2203	4300	6503	SO:0001819	synonymous_variant	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189607256A>G	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1635A>G	3.37:g.189607256A>G		HNSCC(45;0.13)				TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc010hzd.1_Silent_p.T366T	p.T545T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	12	1724	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		545			SAM.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1635A>G	CCDS3293.1																																																																																				0.597	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
LGI2	55203	broad.mit.edu	37	4	25019723	25019723	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:25019723C>A	ENST00000382114.4	-	6	728	c.543G>T	c.(541-543)tgG>tgT	p.W181C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	181	LRRCT.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATCTTCAACCACAGGTATA	0.373																																						uc003grf.2																			0					0						c.(541-543)TGG>TGT		leucine-rich repeat LGI family, member 2							184.0	171.0	175.0					4																	25019723		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25019723C>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.543G>T	4.37:g.25019723C>A	ENSP00000371548:p.Trp181Cys						p.W181C	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			6	642	-		Breast(46;0.173)	181			LRRCT.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.543G>T	CCDS3431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.417110|4.417110	0.83449|0.83449	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|D	.|0.91740	.|-2.9	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Cysteine-rich flanking region, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97129|0.97129	0.9062|0.9062	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.97286|0.97286	0.9921|0.9921	5|10	.|0.72032	.|D	.|0.01	-17.0959|-17.0959	20.0781|20.0781	0.97751|0.97751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181	.|Q8N0V4	.|LGI2_HUMAN	V|C	172|181	.|ENSP00000371548:W181C	.|ENSP00000371548:W181C	G|W	-|-	2|3	0|0	LGI2|LGI2	24628821|24628821	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.373	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
UGT2A3	79799	broad.mit.edu	37	4	69798344	69798344	+	Splice_Site	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:69798344A>G	ENST00000251566.4	-	3	1027		c.e3+1		UGT2A3_ENST00000420231.2_Splice_Site	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3						cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTTTACTGACCTTCTGTGG	0.398																																						uc003hef.2																			0				ovary(1)|skin(1)	2						c.e3+1		UDP glucuronosyltransferase 2 family,							140.0	137.0	138.0					4																	69798344		2203	4300	6503	SO:0001630	splice_region_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798344A>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.996+1T>C	4.37:g.69798344A>G						UGT2A3_uc010ihp.1_Splice_Site	p.K332_splice	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			3	1027	-								Q9H6S4	Splice_Site	SNP	ENST00000251566.4	37	c.996_splice	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	-	14.17	2.455256	0.43634	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7361	0.28815	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2A3	69832933	1.000000	0.71417	0.806000	0.32338	0.284000	0.27059	7.491000	0.81471	0.948000	0.37687	0.459000	0.35465	.		0.398	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	Intron
USP53	54532	broad.mit.edu	37	4	120213685	120213686	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:120213685_120213686delCT	ENST00000274030.6	+	19	3720_3721	c.2541_2542delCT	c.(2539-2544)aactctfs	p.S848fs	USP53_ENST00000450251.1_Frame_Shift_Del_p.S848fs	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACGTTGATAACTCTGCTTCTGG	0.391																																						uc003ics.3																			0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(2539-2544)AACTCTfs		ubiquitin specific protease 53																																				SO:0001589	frameshift_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120213685_120213686delCT	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2541_2542delCT	4.37:g.120213687_120213688delCT	ENSP00000274030:p.Ser848fs					USP53_uc003icr.3_Frame_Shift_Del_p.N847fs|USP53_uc003icu.3_Frame_Shift_Del_p.N470fs	p.N847fs	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			18	3607_3608	+			847_848						Frame_Shift_Del	DEL	ENST00000274030.6	37	c.2541_2542delCT	CCDS43265.1																																																																																				0.391	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
PCDH18	54510	broad.mit.edu	37	4	138442804	138442804	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:138442804G>T	ENST00000344876.4	-	4	3173	c.2787C>A	c.(2785-2787)gaC>gaA	p.D929E	PCDH18_ENST00000510305.1_Missense_Mutation_p.D140E|PCDH18_ENST00000412923.2_Missense_Mutation_p.D928E|PCDH18_ENST00000507846.1_Missense_Mutation_p.D708E|PCDH18_ENST00000511115.1_Missense_Mutation_p.D109E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	929	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAGCACTGGTCAGAGTGTC	0.498																																						uc003ihe.3																			0				pancreas(3)|skin(2)	5						c.(2785-2787)GAC>GAA		protocadherin 18 precursor							132.0	131.0	131.0					4																	138442804		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442804G>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2787C>A	4.37:g.138442804G>T	ENSP00000355082:p.Asp929Glu					PCDH18_uc003ihf.3_Missense_Mutation_p.D921E|PCDH18_uc011cgz.1_Missense_Mutation_p.D140E|PCDH18_uc003ihg.3_Missense_Mutation_p.D708E|PCDH18_uc011cha.1_Missense_Mutation_p.D109E	p.D929E	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			4	3174	-	all_hematologic(180;0.24)		929			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2787C>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518315	0.64634	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	D;D;D;T;T	0.83591	-1.69;-1.68;-1.74;-0.49;-0.45	5.55	4.71	0.59529	.	0.000000	0.45867	D	0.000337	D	0.91314	0.7261	M	0.84948	2.725	0.52099	D	0.999943	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.991;0.992;0.991	D	0.91429	0.5164	10	0.42905	T	0.14	.	14.6088	0.68501	0.07:0.0:0.93:0.0	.	109;708;928;929	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	E	929;928;708;140;109	ENSP00000355082:D929E;ENSP00000390688:D928E;ENSP00000425903:D708E;ENSP00000424269:D140E;ENSP00000425647:D109E	ENSP00000355082:D929E	D	-	3	2	PCDH18	138662254	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.141000	0.58038	1.358000	0.45922	-0.137000	0.14449	GAC		0.498	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
SPOCK3	50859	broad.mit.edu	37	4	167921580	167921580	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:167921580C>T	ENST00000357154.3	-	5	416	c.279G>A	c.(277-279)atG>atA	p.M93I	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.M93I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.M93I|SPOCK3_ENST00000535728.1_Start_Codon_SNP_p.M1I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.M93I|SPOCK3_ENST00000512648.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000421836.2_Missense_Mutation_p.M42I|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.M90I|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.M90I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	93					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTACATTTCATCTTTAAGC	0.348																																						uc003iri.1																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(277-279)ATG>ATA		testican 3 isoform 2							127.0	121.0	123.0					4																	167921580		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167921580C>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.279G>A	4.37:g.167921580C>T	ENSP00000349677:p.Met93Ile					SPOCK3_uc011cjp.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjq.1_Missense_Mutation_p.M102I|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M42I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M1I|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.M90I|SPOCK3_uc011cjw.1_RNA	p.M93I	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	5	420	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	93					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.279G>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926124	0.34002	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000512648;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38560	1.67;1.66;1.66;1.67;1.67;1.67;1.66;1.66;1.74;1.42;2.38;1.18;1.13;1.13	5.4	4.55	0.56014	.	0.315580	0.38548	N	0.001659	T	0.30665	0.0772	N	0.26042	0.785	0.80722	D	1	B;B;B;B;B;B	0.21905	0.002;0.049;0.049;0.0;0.038;0.062	B;B;B;B;B;B	0.20955	0.004;0.009;0.009;0.005;0.015;0.032	T	0.05869	-1.0859	10	0.24483	T	0.36	-5.2744	14.1629	0.65457	0.0:0.9274:0.0:0.0726	.	42;102;90;93;90;93	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	I	93;90;90;93;93;93;90;90;1;42;90;90;93;93	ENSP00000349677:M93I;ENSP00000350153:M90I;ENSP00000425570:M90I;ENSP00000420920:M93I;ENSP00000423421:M93I;ENSP00000423606:M93I;ENSP00000426716:M90I;ENSP00000425502:M90I;ENSP00000441396:M1I;ENSP00000411344:M42I;ENSP00000426177:M90I;ENSP00000423367:M90I;ENSP00000424168:M93I;ENSP00000425407:M93I	ENSP00000349677:M93I	M	-	3	0	SPOCK3	168158155	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.852000	0.27764	1.406000	0.46857	0.557000	0.71058	ATG		0.348	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
MFAP3L	9848	broad.mit.edu	37	4	170926952	170926952	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:170926952G>A	ENST00000361618.3	-	2	384	c.77C>T	c.(76-78)gCc>gTc	p.A26V	MFAP3L_ENST00000393702.3_Missense_Mutation_p.A26V|MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000506110.1_Missense_Mutation_p.A26V	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTAGCGGTGGCTAGAGTGGA	0.458																																						uc003isp.3																			0				ovary(1)	1						c.(76-78)GCC>GTC		microfibrillar-associated protein 3-like isoform							100.0	100.0	100.0					4																	170926952		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170926952G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.77C>T	4.37:g.170926952G>A	ENSP00000354583:p.Ala26Val					MFAP3L_uc003isn.3_5'Flank	p.A26V	NM_021647	NP_067679	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	255	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	26					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.77C>T	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403205	0.42613	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.86164	-1.79;-2.08;-2.08;-2.08;-1.82	5.58	4.72	0.59763	.	0.274739	0.37483	N	0.002074	D	0.84561	0.5499	M	0.69823	2.125	0.19575	N	0.999966	P	0.39282	0.666	B	0.33339	0.162	T	0.75977	-0.3127	10	0.31617	T	0.26	0.738	14.925	0.70871	0.0:0.1426:0.8574:0.0	.	26	O75121	MFA3L_HUMAN	V	26	ENSP00000354583:A26V;ENSP00000377305:A26V;ENSP00000422571:A26V;ENSP00000425303:A26V;ENSP00000426247:A26V	ENSP00000354583:A26V	A	-	2	0	MFAP3L	171163527	0.098000	0.21812	0.164000	0.22755	0.004000	0.04260	1.276000	0.33156	1.429000	0.47314	0.655000	0.94253	GCC		0.458	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647	
TLR3	7098	broad.mit.edu	37	4	187003773	187003773	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:187003773G>A	ENST00000296795.3	+	4	1037	c.933G>A	c.(931-933)caG>caA	p.Q311Q	TLR3_ENST00000504367.1_Silent_p.Q34Q|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	311					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATAATATACAGCATTTGTTTT	0.383																																						uc003iyq.2																			0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(931-933)CAG>CAA		toll-like receptor 3 precursor							64.0	68.0	66.0					4																	187003773		2202	4300	6502	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187003773G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.933G>A	4.37:g.187003773G>A						TLR3_uc011ckz.1_Silent_p.Q34Q|TLR3_uc003iyr.2_Silent_p.Q34Q	p.Q311Q	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1034	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	311			Lumenal (Potential).|LRR 11.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.933G>A	CCDS3846.1																																																																																				0.383	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
SPEF2	79925	broad.mit.edu	37	5	35771803	35771804	+	Frame_Shift_Ins	INS	-	-	A	rs373047946		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:35771803_35771804insA	ENST00000356031.3	+	27	4048_4049	c.3894_3895insA	c.(3895-3897)aaafs	p.K1299fs	SPEF2_ENST00000440995.2_Frame_Shift_Ins_p.K1294fs|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1299					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGCAAATAAAAAAGTCAA	0.426																																						uc003jjo.2																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3892-3897)AATAAAfs		KPL2 protein isoform 1																																				SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771803_35771804insA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3900dupA	5.37:g.35771809_35771809dupA	ENSP00000348314:p.Lys1299fs					SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.2_5'Flank	p.N1298fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	4005_4006	+	all_lung(31;7.56e-05)		1298_1299					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Ins	INS	ENST00000356031.3	37	c.3894_3895insA	CCDS43309.1																																																																																				0.426	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
PIK3R1	5295	broad.mit.edu	37	5	67589619	67589621	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:67589619_67589621delGAG	ENST00000521381.1	+	11	1998_2000	c.1382_1384delGAG	c.(1381-1386)cgagaa>caa	p.461_462RE>Q	PIK3R1_ENST00000336483.5_In_Frame_Del_p.191_192RE>Q|PIK3R1_ENST00000521657.1_In_Frame_Del_p.461_462RE>Q|PIK3R1_ENST00000320694.8_In_Frame_Del_p.161_162RE>Q|PIK3R1_ENST00000396611.1_In_Frame_Del_p.461_462RE>Q|PIK3R1_ENST00000274335.5_In_Frame_Del_p.461_462RE>Q|PIK3R1_ENST00000523872.1_In_Frame_Del_p.98_99RE>Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	461					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.E162*(1)|p.E192*(1)|p.0?(1)|p.?(1)|p.F456_R461>S(1)|p.F456_R461del(1)|p.E462_R465delEYDR(1)|p.Q457_R461del(1)|p.T454_D464del(1)|p.E462*(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)	GAAAAAAGTCGAGAATATGATAG	0.281			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		10	Deletion - In frame(4)|Substitution - Nonsense(3)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	p.D434_Q475del(2)|p.?(1)|p.F456_R461>S(1)|p.Q457_R461del(1)|p.F456_R461del(1)|p.R461*(1)|p.T454_D464del(1)	lung(5)|endometrium(4)|large_intestine(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1381-1386)CGAGAA>CAA		phosphoinositide-3-kinase, regulatory subunit 1	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.chr5:67589619_67589621delGAG	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.1382_1384delGAG	5.37:g.67589619_67589621delGAG	ENSP00000428056:p.Arg461_Glu462delinsGln	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_In_Frame_Del_p.461_462RE>Q|PIK3R1_uc003jvc.2_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.2_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.2_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc011crb.1_In_Frame_Del_p.131_132RE>Q	p.461_462RE>Q	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1942_1944	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	461_462					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1382_1384delGAG	CCDS3993.1																																																																																				0.281	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
HOMER1	9456	broad.mit.edu	37	5	78752779	78752781	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:78752779_78752781delTTC	ENST00000334082.6	-	2	1508_1510	c.66_68delGAA	c.(64-69)aagaac>aac	p.K22del	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_In_Frame_Del_p.K22del|HOMER1_ENST00000508576.1_In_Frame_Del_p.K22del	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	22	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GGGTACCCAGTTCTTCTTTGTGT	0.433																																						uc003kfy.2																			0					0						c.(64-69)AAGAAC>AAC		homer 1																																				SO:0001651	inframe_deletion	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752779_78752781delTTC	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.66_68delGAA	5.37:g.78752782_78752784delTTC	ENSP00000334382:p.Lys22del					HOMER1_uc010jab.2_In_Frame_Del_p.K22del|HOMER1_uc010jac.2_In_Frame_Del_p.K22del|HOMER1_uc010jad.2_Intron	p.K22del	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	2	1169_1171	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	22			WH1.		B2R688|O96003|Q86YM5	In_Frame_Del	DEL	ENST00000334082.6	37	c.66_68delGAA	CCDS43335.1																																																																																				0.433	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	
FAT2	2196	broad.mit.edu	37	5	150934173	150934173	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:150934173A>G	ENST00000261800.5	-	4	3707	c.3695T>C	c.(3694-3696)aTc>aCc	p.I1232T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1232	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTCCAAGATGCCTACCAC	0.552																																						uc003lue.3																			0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3694-3696)ATC>ACC		FAT tumor suppressor 2 precursor							144.0	125.0	132.0					5																	150934173		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150934173A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3695T>C	5.37:g.150934173A>G	ENSP00000261800:p.Ile1232Thr					GM2A_uc011dcs.1_Intron	p.I1232T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	3708	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1232			Extracellular (Potential).|Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3695T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746476	0.30955	.	.	ENSG00000086570	ENST00000261800	T	0.58940	0.3	5.46	5.46	0.80206	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.918173	0.09172	N	0.838752	T	0.69142	0.3078	M	0.88570	2.965	0.40252	D	0.978088	B	0.28783	0.222	B	0.30716	0.119	T	0.68792	-0.5315	10	0.87932	D	0	.	15.019	0.71613	1.0:0.0:0.0:0.0	.	1232	Q9NYQ8	FAT2_HUMAN	T	1232	ENSP00000261800:I1232T	ENSP00000261800:I1232T	I	-	2	0	FAT2	150914366	1.000000	0.71417	0.012000	0.15200	0.043000	0.13939	8.832000	0.92079	2.191000	0.70037	0.533000	0.62120	ATC		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
TIMD4	91937	broad.mit.edu	37	5	156381617	156381617	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:156381617C>T	ENST00000274532.2	-	2	265	c.209G>A	c.(208-210)cGc>cAc	p.R70H	TIMD4_ENST00000407087.3_Missense_Mutation_p.R70H	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	70	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCATCAGTGCGGATGAGCGC	0.522																																						uc003lwh.2																			0				ovary(2)	2						c.(208-210)CGC>CAC		T-cell immunoglobulin and mucin domain							116.0	107.0	110.0					5																	156381617		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381617C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.209G>A	5.37:g.156381617C>T	ENSP00000274532:p.Arg70His					TIMD4_uc010jii.2_Missense_Mutation_p.R70H	p.R70H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	266	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	70			Ig-like V-type.|Extracellular (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.209G>A	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	c	2.092	-0.408116	0.04832	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.67345	-0.26;-0.26	5.54	-3.49	0.04724	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.198340	0.05969	N	0.641972	T	0.46073	0.1374	L	0.33339	1.005	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19910	-1.0291	10	0.12430	T	0.62	-4.1324	3.2121	0.06686	0.1018:0.2633:0.1044:0.5305	.	70;70	B5MCL9;Q96H15	.;TIMD4_HUMAN	H	70	ENSP00000274532:R70H;ENSP00000385973:R70H	ENSP00000274532:R70H	R	-	2	0	TIMD4	156314195	0.000000	0.05858	0.073000	0.20177	0.009000	0.06853	-1.060000	0.03475	-0.168000	0.10853	-1.119000	0.02030	CGC		0.522	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379	
FGFR4	2264	broad.mit.edu	37	5	176520301	176520301	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:176520301A>C	ENST00000292408.4	+	9	1465	c.1220A>C	c.(1219-1221)cAg>cCg	p.Q407P	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q407P|FGFR4_ENST00000393648.2_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	407					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GCCACTGTGCAGAAGCTCTCC	0.692										TSP Lung(9;0.080)																												uc003mfl.2																			0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1219-1221)CAG>CCG		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						39.0	44.0	43.0					5																	176520301		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520301A>C	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1220A>C	5.37:g.176520301A>C	ENSP00000292408:p.Gln407Pro	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	p.Q407P	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1387	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	407			Cytoplasmic (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1220A>C	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581650	0.46006	.	.	ENSG00000160867	ENST00000292408;ENST00000502906;ENST00000377207	D;D	0.84660	-1.88;-1.88	4.25	4.25	0.50352	.	0.479090	0.24081	N	0.041725	D	0.88284	0.6395	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.52109	0.69	D	0.89273	0.3606	10	0.56958	D	0.05	.	13.2011	0.59769	1.0:0.0:0.0:0.0	.	407	P22455	FGFR4_HUMAN	P	407;407;635	ENSP00000292408:Q407P;ENSP00000424960:Q407P	ENSP00000292408:Q407P	Q	+	2	0	FGFR4	176452907	1.000000	0.71417	0.994000	0.49952	0.406000	0.30931	5.921000	0.70028	1.795000	0.52594	0.459000	0.35465	CAG		0.692	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		
KIAA0319	9856	broad.mit.edu	37	6	24563608	24563608	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:24563608A>G	ENST00000378214.3	-	16	3094	c.2570T>C	c.(2569-2571)aTt>aCt	p.I857T	KIAA0319_ENST00000543707.1_Missense_Mutation_p.I857T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.I848T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.I857T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.I812T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	857					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGGGCCCGAATCTTCTGGAC	0.567																																						uc011djo.1																			0				ovary(1)|skin(1)	2						c.(2569-2571)ATT>ACT		KIAA0319 precursor							75.0	62.0	66.0					6																	24563608		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24563608A>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2570T>C	6.37:g.24563608A>G	ENSP00000367459:p.Ile857Thr					KIAA0319_uc011djp.1_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T	p.I857T	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			16	2807	-			857			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2570T>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500600	0.64298	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.10960	2.83;2.83;2.83;2.82;2.82	4.23	4.23	0.50019	.	0.075313	0.53938	D	0.000053	T	0.17746	0.0426	M	0.76328	2.33	0.50813	D	0.999899	D;P;P	0.63046	0.992;0.925;0.877	P;P;B	0.57101	0.813;0.536;0.335	T	0.01416	-1.1360	10	0.87932	D	0	-20.0534	13.4883	0.61379	1.0:0.0:0.0:0.0	.	857;848;857	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	857;848;812;857;857	ENSP00000439700:I857T;ENSP00000442403:I848T;ENSP00000401086:I812T;ENSP00000367459:I857T;ENSP00000437656:I857T	ENSP00000367459:I857T	I	-	2	0	KIAA0319	24671587	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.087000	0.89521	1.754000	0.51921	0.533000	0.62120	ATT		0.567	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
HIST1H3F	8968	broad.mit.edu	37	6	26250643	26250643	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:26250643C>T	ENST00000446824.2	-	1	192	c.191G>A	c.(190-192)cGc>cAc	p.R64H	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	64					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						TGGTAGCTTGCGAATCAGTAG	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhg.1																			0					0						c.(190-192)CGC>CAC		histone cluster 1, H3f							118.0	119.0	119.0					6																	26250643		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250643C>T	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.191G>A	6.37:g.26250643C>T	ENSP00000444823:p.Arg64His		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H2BH_uc003nhh.2_5'Flank	p.R64H	NM_021018	NP_066298	P68431	H31_HUMAN			1	193	-			64					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.191G>A	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	16.85	3.237711	0.58886	.	.	ENSG00000256316	ENST00000446824	T	0.46819	0.86	4.82	4.82	0.62117	.	.	.	.	.	T	0.58004	0.2092	.	.	.	0.45762	D	0.998659	.	.	.	.	.	.	T	0.60500	-0.7251	6	0.56958	D	0.05	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	H	64	ENSP00000444823:R64H	ENSP00000444823:R64H	R	-	2	0	HIST1H3F	26358622	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.826000	0.69293	2.602000	0.87976	0.561000	0.74099	CGC		0.612	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018	
TULP1	7287	broad.mit.edu	37	6	35477607	35477607	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:35477607T>C	ENST00000229771.6	-	6	677	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TULP1_ENST00000322263.4_Missense_Mutation_p.K147E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	200					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCACCTTTCTTCTTGGTC	0.592																																					GBM(55;1027 1091 11115 23439)	uc003okv.3																			0				ovary(2)|central_nervous_system(1)	3						c.(598-600)AAA>GAA		tubby like protein 1							191.0	185.0	187.0					6																	35477607		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35477607T>C	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.598A>G	6.37:g.35477607T>C	ENSP00000229771:p.Lys200Glu					TULP1_uc003okw.3_Missense_Mutation_p.K147E	p.K200E	NM_003322	NP_003313	O00294	TULP1_HUMAN			6	610	-			200					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.598A>G	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333983	0.41297	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	D;D;T	0.82526	-1.62;-1.5;-0.11	4.16	4.16	0.48862	.	0.219095	0.21296	U	0.076887	T	0.81870	0.4914	L	0.58101	1.795	0.54753	D	0.999986	D;D	0.71674	0.998;0.988	D;P	0.78314	0.991;0.76	T	0.79378	-0.1828	10	0.11485	T	0.65	.	10.6768	0.45792	0.0:0.0:0.0:1.0	.	147;200	O00294-2;O00294	.;TULP1_HUMAN	E	200;147;147;152	ENSP00000229771:K200E;ENSP00000319414:K147E;ENSP00000406765:K152E	ENSP00000229771:K200E	K	-	1	0	TULP1	35585585	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	3.261000	0.51530	1.747000	0.51819	0.379000	0.24179	AAA		0.592	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2		
CAPN11	11131	broad.mit.edu	37	6	44140965	44140965	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:44140965T>A	ENST00000398776.1	+	7	711	c.673T>A	c.(673-675)Tcc>Acc	p.S225T	CAPN11_ENST00000542245.1_Missense_Mutation_p.S225T	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	225	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGTGGGTCCTATGAAGC	0.617											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owt.1																			0				ovary(1)|breast(1)	2						c.(673-675)TCC>ACC		calpain 11							94.0	96.0	95.0					6																	44140965		2026	4181	6207	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44140965T>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.673T>A	6.37:g.44140965T>A	ENSP00000381758:p.Ser225Thr		OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921		p.S225T	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	711	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		225			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.673T>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116771	0.77323	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.89050	-2.46;-2.46	4.3	4.3	0.51218	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.48286	D	0.000198	D	0.94827	0.8329	H	0.95539	3.685	0.36467	D	0.867011	P	0.51933	0.949	P	0.61940	0.896	D	0.96239	0.9174	10	0.72032	D	0.01	.	13.6399	0.62243	0.0:0.0:0.0:1.0	.	225	Q9UMQ6	CAN11_HUMAN	T	225	ENSP00000381758:S225T;ENSP00000441078:S225T	ENSP00000381758:S225T	S	+	1	0	CAPN11	44248943	0.993000	0.37304	0.961000	0.40146	0.727000	0.41649	5.956000	0.70315	2.170000	0.68504	0.491000	0.48974	TCC		0.617	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3		
RAB23	51715	broad.mit.edu	37	6	57055306	57055309	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:57055306_57055309delTTTG	ENST00000317483.3	-	7	1283_1286	c.664_667delCAAA	c.(664-669)caaaggfs	p.QR222fs	RAB23_ENST00000468148.1_Frame_Shift_Del_p.QR222fs	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	222					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTTGGTCCTTTGTTTGTTGGGT	0.387																																						uc003pds.2																			0				skin(1)	1						c.(664-669)CAAAGGfs		Ras-related protein Rab-23																																				SO:0001589	frameshift_variant	51715				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr6:57055306_57055309delTTTG	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.664_667delCAAA	6.37:g.57055310_57055313delTTTG	ENSP00000320413:p.Gln222fs					RAB23_uc003pdt.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.2_RNA	p.Q222fs	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		7	870_873	-	Lung NSC(77;0.121)		222_223					B2R9I5|Q68DJ6|Q8NI06|Q9P023	Frame_Shift_Del	DEL	ENST00000317483.3	37	c.664_667delCAAA	CCDS4962.1																																																																																				0.387	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1		
SPACA1	81833	broad.mit.edu	37	6	88769216	88769216	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:88769216A>C	ENST00000237201.1	+	5	637	c.520A>C	c.(520-522)Aag>Cag	p.K174Q	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	174					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGAAGTACGCAAGGAAAGTCA	0.343																																						uc003pmn.2																			0					0						c.(520-522)AAG>CAG		sperm acrosome associated 1 precursor							87.0	84.0	85.0					6																	88769216		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88769216A>C	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.520A>C	6.37:g.88769216A>C	ENSP00000237201:p.Lys174Gln						p.K174Q	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	5	637	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	174			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000237201.1	37	c.520A>C	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	A	6.708	0.499289	0.12762	.	.	ENSG00000118434	ENST00000237201	T	0.21031	2.03	5.5	3.18	0.36537	.	0.000000	0.64402	D	0.000002	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.36016	-0.9765	10	0.72032	D	0.01	-11.4498	12.0546	0.53527	0.677:0.323:0.0:0.0	.	174	Q9HBV2	SACA1_HUMAN	Q	174	ENSP00000237201:K174Q	ENSP00000237201:K174Q	K	+	1	0	SPACA1	88825935	0.986000	0.35501	0.497000	0.27552	0.041000	0.13682	2.837000	0.48191	0.894000	0.36317	0.528000	0.53228	AAG		0.343	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1		
ASCC3	10973	broad.mit.edu	37	6	101110219	101110219	+	Splice_Site	SNP	A	A	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:101110219A>T	ENST00000369162.2	-	15	2823		c.e15+1			NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAAGCTCTTACCTTAATAAT	0.398																																						uc003pqk.2																			0				ovary(5)|skin(1)	6						c.e15+1		activating signal cointegrator 1 complex subunit							58.0	54.0	56.0					6																	101110219		2203	4299	6502	SO:0001630	splice_region_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101110219A>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2478+1T>A	6.37:g.101110219A>T						ASCC3_uc011eai.1_Splice_Site_p.K728_splice	p.K826_splice	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	15	2807	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)						E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Splice_Site	SNP	ENST00000369162.2	37	c.2478_splice	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973407	0.74246	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.52	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7512	0.57310	0.8628:0.1372:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASCC3	101216940	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.287000	0.95975	0.990000	0.38787	0.528000	0.53228	.		0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	Intron
CCDC129	223075	broad.mit.edu	37	7	31617703	31617703	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:31617703G>A	ENST00000407970.3	+	8	863	c.825G>A	c.(823-825)gaG>gaA	p.E275E	CCDC129_ENST00000409210.1_Silent_p.E183E|CCDC129_ENST00000451887.2_Silent_p.E301E|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	275										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGTATCAGAGTCCTTCAAGG	0.453																																						uc003tcj.1																			0					0						c.(823-825)GAG>GAA		coiled-coil domain containing 129							57.0	58.0	57.0					7																	31617703		2203	4299	6502	SO:0001819	synonymous_variant	223075							g.chr7:31617703G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.825G>A	7.37:g.31617703G>A						CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Silent_p.E301E|CCDC129_uc003tck.1_Silent_p.E183E	p.E275E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			8	1818	+			275					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.825G>A	CCDS5435.2																																																																																				0.453	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
ZNF138	7697	broad.mit.edu	37	7	64313091	64313091	+	IGR	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:64313091T>C								ZNF138 (19037 upstream) : ZNF273 (29779 downstream)																							CTTAGGAATATCCAGCCACTG	0.493																																						uc003ttj.1																			0					0						c.(535-537)GAT>GGT		SubName: Full=Selenophosphate synthetase 1; SubName: Full=Selenophosphate synthetase 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	168474							g.chr7:64313091T>C																													7.37:g.64313091T>C							p.D179G	NR_002789						1	1088	-									Missense_Mutation	SNP		37	c.536A>G																																																																																				0	0.493								
TRIM73	375593	broad.mit.edu	37	7	75028495	75028495	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:75028495G>A	ENST00000437796.1	+	1	297	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	TRIM73_ENST00000430211.1_Missense_Mutation_p.R93Q|TRIM73_ENST00000323819.3_Missense_Mutation_p.R93Q|TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000447409.2_Missense_Mutation_p.R93Q			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	93						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGCACCACCGGAACCCGCTC	0.667																																						uc003udc.1																			0					0						c.(277-279)CGG>CAG		tripartite motif-containing 73							7.0	19.0	16.0					7																	75028495		848	2258	3106	SO:0001583	missense	378108					intracellular	zinc ion binding	g.chr7:75028495G>A	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.278G>A	7.37:g.75028495G>A	ENSP00000417040:p.Arg93Gln					TRIM74_uc010ldc.2_Missense_Mutation_p.R93Q|TRIM74_uc010ldd.2_Missense_Mutation_p.R93Q	p.R93Q	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN			2	478	+			93			B box-type.		Q8N0S3	Missense_Mutation	SNP	ENST00000437796.1	37	c.278G>A	CCDS34665.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576170	0.28092	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	2.31	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (2);Zinc finger, B-box (6);	0.385077	0.21047	N	0.081073	T	0.24044	0.0582	N	0.04148	-0.265	0.21627	N	0.999618	B;B	0.24533	0.105;0.105	B;B	0.14578	0.011;0.011	T	0.08806	-1.0704	10	0.54805	T	0.06	.	4.0895	0.09963	0.3041:0.0:0.6959:0.0	.	93;93	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	Q	93	ENSP00000318615:R93Q;ENSP00000410121:R93Q;ENSP00000407135:R93Q;ENSP00000417040:R93Q	ENSP00000318615:R93Q	R	+	2	0	TRIM73	74866431	0.977000	0.34250	0.996000	0.52242	0.947000	0.59692	2.023000	0.41040	1.612000	0.50221	0.400000	0.26472	CGG		0.667	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1		
SMURF1	57154	broad.mit.edu	37	7	98636097	98636099	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:98636097_98636099delGTT	ENST00000361125.1	-	15	1997_1999	c.1678_1680delAAC	c.(1678-1680)aacdel	p.N560del	AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_In_Frame_Del_p.N534del|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	560	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCGAAGGCGTTGTGTTCCACG	0.512																																						uc003upu.1																			0				skin(2)|ovary(1)|lung(1)	4						c.(1678-1680)AACdel		Smad ubiquitination regulatory factor 1 isoform																																				SO:0001651	inframe_deletion	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98636097_98636099delGTT	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1678_1680delAAC	7.37:g.98636097_98636099delGTT	ENSP00000354621:p.Asn560del					SMURF1_uc003upv.1_In_Frame_Del_p.N534del|SMURF1_uc003upt.2_In_Frame_Del_p.N534del	p.N560del	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		15	1998_2000	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		560			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	In_Frame_Del	DEL	ENST00000361125.1	37	c.1678_1680delAAC	CCDS34690.1																																																																																				0.512	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429	
CFTR	1080	broad.mit.edu	37	7	117180363	117180363	+	Missense_Mutation	SNP	C	C	G	rs75053309|rs397508152		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:117180363C>G	ENST00000003084.6	+	8	1211	c.1079C>G	c.(1078-1080)aCa>aGa	p.T360R	CFTR_ENST00000454343.1_Missense_Mutation_p.T360R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	360	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		QT -> KK (in CF).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCTGTACAAACATGGTATGAC	0.388									Cystic Fibrosis																													uc003vjd.2																			0				central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CM983548	CFTR	M	rs75053309	c.(1078-1080)ACA>AGA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						106.0	102.0	103.0					7																	117180363		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117180363C>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1079C>G	7.37:g.117180363C>G	ENSP00000003084:p.Thr360Arg					CFTR_uc011knq.1_5'UTR	p.T360R	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		8	1211	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		360		QT -> KK (in CF).	Cytoplasmic (Potential).|ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1079C>G	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255333	0.59321	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91843	-2.92;-2.92;-2.92	5.26	2.4	0.29515	ABC transporter, transmembrane domain, type 1 (1);	0.137729	0.64402	D	0.000004	D	0.86581	0.5967	N	0.20685	0.6	0.31969	N	0.607406	P	0.38370	0.628	P	0.47346	0.544	T	0.82434	-0.0459	10	0.13108	T	0.6	-8.9007	9.5986	0.39589	0.0:0.7688:0.0:0.2312	.	360	P13569	CFTR_HUMAN	R	360;360;330	ENSP00000003084:T360R;ENSP00000403677:T360R;ENSP00000389119:T330R	ENSP00000003084:T360R	T	+	2	0	CFTR	116967599	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	2.980000	0.49321	0.684000	0.31448	0.563000	0.77884	ACA		0.388	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
SND1	27044	broad.mit.edu	37	7	127724820	127724820	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:127724820G>T	ENST00000354725.3	+	19	2349	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	719					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.A719S(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAATGACATTGCCAGTCACCC	0.562																																						uc003vmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2155-2157)GCC>TCC		staphylococcal nuclease domain containing 1							98.0	85.0	89.0					7																	127724820		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127724820G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2155G>T	7.37:g.127724820G>T	ENSP00000346762:p.Ala719Ser					SND1_uc010lle.2_Missense_Mutation_p.A372S	p.A719S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			19	2381	+			719					Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2155G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	8.849	0.944133	0.18281	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.09350	2.99;2.99	5.52	-3.09	0.05331	Maternal tudor protein (1);	0.329287	0.35207	N	0.003365	T	0.04679	0.0127	L	0.27053	0.805	0.45330	D	0.998329	B	0.02656	0.0	B	0.06405	0.002	T	0.45977	-0.9224	10	0.08599	T	0.76	-1.4859	5.3507	0.16034	0.2329:0.0:0.2528:0.5142	.	719	Q7KZF4	SND1_HUMAN	S	719;709;205	ENSP00000346762:A719S;ENSP00000419327:A205S	ENSP00000346762:A719S	A	+	1	0	SND1	127512056	0.618000	0.27051	0.527000	0.27925	0.890000	0.51754	0.828000	0.27435	-0.723000	0.04915	-0.291000	0.09656	GCC		0.562	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
SSPO	23145	broad.mit.edu	37	7	149477563	149477563	+	RNA	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:149477563C>A	ENST00000378016.2	+	0	1634							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGTAACCCCTGGTGGGTC	0.627																																						uc010lpk.2																			0					0						c.(1633-1635)CCC>CAC		SCO-spondin precursor							30.0	35.0	33.0					7																	149477563		2116	4227	6343			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477563C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477563C>A						SSPO_uc010lpl.1_Intron	p.P545H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		12	1634	+	Melanoma(164;0.165)|Ovarian(565;0.177)		545					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.1634C>A																																																																																					0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
POLR3D	661	broad.mit.edu	37	8	22106020	22106020	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:22106020C>T	ENST00000397802.4	+	5	728	c.513C>T	c.(511-513)aaC>aaT	p.N171N	POLR3D_ENST00000306433.4_Silent_p.N171N			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	171					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCCTGAGGAACGACACTCGAA	0.527																																						uc003xbl.2																			0					0						c.(511-513)AAC>AAT		polymerase (RNA) III (DNA directed) polypeptide							89.0	96.0	94.0					8																	22106020		2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106020C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.513C>T	8.37:g.22106020C>T						POLR3D_uc003xbm.2_Silent_p.N171N|POLR3D_uc011kze.1_RNA	p.N171N	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	6	596	+			171					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.513C>T	CCDS34858.1																																																																																				0.527	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722	
KCTD9	54793	broad.mit.edu	37	8	25287394	25287394	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:25287394G>A	ENST00000221200.4	-	12	1369	c.1149C>T	c.(1147-1149)caC>caT	p.H383H		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	383					protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTTGTGACATGTGTAGTGGTG	0.428																																						uc003xeo.2																			0					0						c.(1147-1149)CAC>CAT		potassium channel tetramerisation domain							135.0	122.0	127.0					8																	25287394		2203	4300	6503	SO:0001819	synonymous_variant	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25287394G>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.1149C>T	8.37:g.25287394G>A						PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	p.H383H	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	12	1307	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	383					Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	c.1149C>T	CCDS6048.1																																																																																				0.428	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634	
FAM110B	90362	broad.mit.edu	37	8	59058884	59058884	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:59058884A>T	ENST00000361488.3	+	5	975	c.95A>T	c.(94-96)aAg>aTg	p.K32M	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	32						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCTGAACAAGGGGCCAGAC	0.657																																						uc003xtj.1																			0				large_intestine(1)	1						c.(94-96)AAG>ATG		hypothetical protein LOC90362							36.0	37.0	37.0					8																	59058884		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058884A>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.95A>T	8.37:g.59058884A>T	ENSP00000355204:p.Lys32Met						p.K32M	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	975	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	32					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.95A>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094451	0.56075	.	.	ENSG00000169122	ENST00000361488	T	0.55413	0.52	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72408	-0.4303	9	.	.	.	-20.4984	14.6972	0.69132	1.0:0.0:0.0:0.0	.	32	Q8TC76	F110B_HUMAN	M	32	ENSP00000355204:K32M	.	K	+	2	0	FAM110B	59221438	1.000000	0.71417	0.995000	0.50966	0.443000	0.32047	9.125000	0.94402	1.873000	0.54277	0.260000	0.18958	AAG		0.657	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189	
NCOA2	10499	broad.mit.edu	37	8	71069277	71069277	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:71069277A>G	ENST00000452400.2	-	11	1504	c.1323T>C	c.(1321-1323)ttT>ttC	p.F441F	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	441					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGAACCACCAAACCTGCCCA	0.502			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1321-1323)TTT>TTC		nuclear receptor coactivator 2							120.0	114.0	116.0					8																	71069277		1945	4136	6081	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069277A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1323T>C	8.37:g.71069277A>G							p.F441F	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1485	-	Breast(64;0.201)		441					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1323T>C	CCDS47872.1																																																																																				0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
SLC7A13	157724	broad.mit.edu	37	8	87235301	87235301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:87235301delG	ENST00000297524.3	-	2	820	c.717delC	c.(715-717)cccfs	p.P239fs	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.P230fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	239						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATGCATTTGGGAATTGTTG	0.358																																						uc003ydq.1																			0				central_nervous_system(1)	1						c.(715-717)CCCfs		solute carrier family 7, (cationic amino acid							143.0	148.0	146.0					8																	87235301		2203	4300	6503	SO:0001589	frameshift_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87235301delG	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.717delC	8.37:g.87235301delG	ENSP00000297524:p.Pro239fs					SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs	p.P239fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			2	815	-			239			Cytoplasmic (Potential).		Q05C37|Q08AH9|Q96N84	Frame_Shift_Del	DEL	ENST00000297524.3	37	c.717delC	CCDS34917.1																																																																																				0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	
NCALD	83988	broad.mit.edu	37	8	102705056	102705056	+	Silent	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:102705056T>C	ENST00000311028.3	-	6	825	c.447A>G	c.(445-447)acA>acG	p.T149T	NCALD_ENST00000395923.1_Silent_p.T149T|NCALD_ENST00000521599.1_Silent_p.T149T|NCALD_ENST00000519508.2_Silent_p.T149T|NCALD_ENST00000522951.1_Silent_p.T149T|NCALD_ENST00000220931.6_Silent_p.T149T	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGATCTTTTCTGTTCTTTTCT	0.507																																						uc003yke.2																			0					0						c.(445-447)ACA>ACG		neurocalcin delta							168.0	158.0	161.0					8																	102705056		2203	4300	6503	SO:0001819	synonymous_variant	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102705056T>C	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.447A>G	8.37:g.102705056T>C						NCALD_uc003ykf.2_Silent_p.T149T|NCALD_uc003ykg.2_Silent_p.T149T|NCALD_uc003ykh.2_Silent_p.T149T|NCALD_uc003yki.2_Silent_p.T149T|NCALD_uc003ykj.2_Silent_p.T149T|NCALD_uc003ykk.2_Silent_p.T149T|NCALD_uc003ykl.2_Silent_p.T149T	p.T149T	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		3	816	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		149			EF-hand 4.		P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	c.447A>G	CCDS6292.1																																																																																				0.507	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2		
PKHD1L1	93035	broad.mit.edu	37	8	110460477	110460477	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:110460477A>G	ENST00000378402.5	+	39	5986	c.5882A>G	c.(5881-5883)aAt>aGt	p.N1961S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1961	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCATGGCCAATGATAGTGTG	0.438										HNSCC(38;0.096)																												uc003yne.2																			0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5881-5883)AAT>AGT		fibrocystin L precursor							95.0	96.0	95.0					8																	110460477		2032	4203	6235	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110460477A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5882A>G	8.37:g.110460477A>G	ENSP00000367655:p.Asn1961Ser	HNSCC(38;0.096)					p.N1961S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		39	5986	+			1961			Extracellular (Potential).|IPT/TIG 12.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5882A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	0.630	-0.817549	0.02776	.	.	ENSG00000205038	ENST00000378402	T	0.74632	-0.86	5.49	3.12	0.35913	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.325031	0.28665	N	0.014553	T	0.46756	0.1409	N	0.10874	0.06	0.21064	N	0.999796	B	0.02656	0.0	B	0.11329	0.006	T	0.28744	-1.0034	10	0.07482	T	0.82	.	4.7272	0.12946	0.6711:0.1609:0.168:0.0	.	1961	Q86WI1	PKHL1_HUMAN	S	1961	ENSP00000367655:N1961S	ENSP00000367655:N1961S	N	+	2	0	PKHD1L1	110529653	0.994000	0.37717	0.890000	0.34922	0.223000	0.24884	1.238000	0.32707	0.392000	0.25172	0.477000	0.44152	AAT		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
FER1L6	654463	broad.mit.edu	37	8	125047566	125047566	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:125047566G>A	ENST00000522917.1	+	19	2541	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V779M|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	779						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAGTCGACGTGTACCTGTG	0.493																																						uc003yqw.2																			0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2335-2337)GTG>ATG		fer-1-like 6							99.0	99.0	99.0					8																	125047566		1960	4155	6115	SO:0001583	missense	654463					integral to membrane		g.chr8:125047566G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2335G>A	8.37:g.125047566G>A	ENSP00000428280:p.Val779Met					uc003yqx.1_Intron	p.V779M	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2541	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		779			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.2335G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179454	0.57800	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.73152	-0.72;-0.72	4.83	1.97	0.26223	Ferlin B-domain (1);	0.332965	0.23945	U	0.043005	T	0.71863	0.3390	M	0.69185	2.1	0.26722	N	0.970767	D	0.53745	0.962	P	0.53006	0.715	T	0.63497	-0.6624	10	0.52906	T	0.07	.	5.6104	0.17402	0.2555:0.1448:0.5996:0.0	.	779	Q2WGJ9	FR1L6_HUMAN	M	779	ENSP00000428280:V779M;ENSP00000381982:V779M	ENSP00000381982:V779M	V	+	1	0	FER1L6	125116747	0.435000	0.25577	0.329000	0.25429	0.989000	0.77384	0.673000	0.25203	0.161000	0.19458	0.563000	0.77884	GTG		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
DGAT1	8694	broad.mit.edu	37	8	145540703	145540703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:145540703delG	ENST00000332324.4	-	15	1503	c.1230delC	c.(1228-1230)gccfs	p.A410fs	DGAT1_ENST00000527438.1_5'UTR|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	410					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGAAGGCCGAGGCCAGGAACA	0.637																																						uc003zbv.3																			0					0						c.(1228-1230)GCCfs		diacylglycerol O-acyltransferase 1							59.0	57.0	58.0					8																	145540703		2203	4296	6499	SO:0001589	frameshift_variant	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145540703delG	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1230delC	8.37:g.145540703delG	ENSP00000332258:p.Ala410fs					DGAT1_uc010mfv.2_Frame_Shift_Del_p.L245fs	p.A410fs	NM_012079	NP_036211	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		15	1498	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		410			Lumenal (Potential).		B2RWQ2|D3DWL6|Q96BB8	Frame_Shift_Del	DEL	ENST00000332324.4	37	c.1230delC	CCDS6420.1																																																																																				0.637	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079	
FXN	2395	broad.mit.edu	37	9	71687595	71687595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:71687595G>T	ENST00000377270.3	+	5	1074	c.550G>T	c.(550-552)Gag>Tag	p.E184*	FXN_ENST00000498653.1_Nonsense_Mutation_p.E109*|FXN_ENST00000396364.3_Intron|FXN_ENST00000396366.2_Missense_Mutation_p.M186I	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	184					adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						GTCCCTCCATGAGCTGCTGGC	0.498																																						uc004aha.2																			0					0						c.(550-552)GAG>TAG		frataxin isoform 1 preproprotein							119.0	102.0	108.0					9																	71687595		2203	4300	6503	SO:0001587	stop_gained	2395				cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding	g.chr9:71687595G>T	U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"""Friedreich ataxia"""	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.550G>T	9.37:g.71687595G>T	ENSP00000366482:p.Glu184*					FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I	p.E184*	NM_000144	NP_000135	Q16595	FRDA_HUMAN			5	770	+			184					A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Nonsense_Mutation	SNP	ENST00000377270.3	37	c.550G>T	CCDS6626.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.52|13.52|13.52	2.263156|2.263156|2.263156	0.39995|0.39995|0.39995	.|.|.	.|.|.	ENSG00000165060|ENSG00000165060|ENSG00000165060	ENST00000377270;ENST00000498653|ENST00000396366|ENST00000484259	.|D|.	.|0.95622|.	.|-3.76|.	4.87|4.87|4.87	1.91|1.91|1.91	0.25777|0.25777|0.25777	.|.|.	0.435914|.|.	0.25461|.|.	N|.|.	0.030517|.|.	.|T|.	.|0.69333|.	.|0.3099|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.12013|.	.|0.005|.	.|B|.	.|0.09377|.	.|0.004|.	.|T|.	.|0.66795|.	.|-0.5833|.	.|8|.	0.38643|0.39692|.	T|T|.	0.18|0.17|.	-8.8717|-8.8717|-8.8717	15.522|15.522|15.522	0.75874|0.75874|0.75874	0.0:0.4531:0.5469:0.0|0.0:0.4531:0.5469:0.0|0.0:0.4531:0.5469:0.0	.|.|.	.|186|.	.|A8MXJ6|.	.|.|.	X|I|L	184;109|186|81	.|ENSP00000379652:M186I|.	ENSP00000366482:E184X|ENSP00000379652:M186I|.	E|M|X	+|+|+	1|3|2	0|0|2	FXN|FXN|FXN	70877415|70877415|70877415	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.871000|0.871000|0.871000	0.34182|0.34182|0.34182	0.625000|0.625000|0.625000	0.37756|0.37756|0.37756	2.559000|2.559000|2.559000	0.45888|0.45888|0.45888	0.093000|0.093000|0.093000	0.17368|0.17368|0.17368	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|ATG|TGA		0.498	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144	
TLE4	7091	broad.mit.edu	37	9	82227600	82227600	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:82227600C>T	ENST00000376552.2	+	5	1300	c.282C>T	c.(280-282)atC>atT	p.I94I	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376544.3_Silent_p.I94I|TLE4_ENST00000376537.4_Silent_p.I94I|TLE4_ENST00000265284.6_Silent_p.I94I|TLE4_ENST00000376520.4_Silent_p.I94I	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	94	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGAATGCTATCTGTGCACAAG	0.408																																						uc004ald.2																			0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(259-261)ATC>ATT		transducin-like enhancer protein 4							195.0	175.0	181.0					9																	82227600		1896	4119	6015	SO:0001819	synonymous_variant	7091							g.chr9:82227600C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.282C>T	9.37:g.82227600C>T						TLE4_uc004alc.2_Silent_p.I94I|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.I87I|TLE4_uc010mps.2_Silent_p.I87I|TLE4_uc004alf.2_Silent_p.I32I	p.I87I	NM_007005	NP_008936	O60756	BCE1_HUMAN			5	1110	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.261C>T	CCDS43837.1																																																																																				0.408	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
TDRD7	23424	broad.mit.edu	37	9	100235814	100235814	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:100235814G>T	ENST00000355295.4	+	11	2280	c.1985G>T	c.(1984-1986)tGc>tTc	p.C662F	TDRD7_ENST00000422139.2_Missense_Mutation_p.C588F|TDRD7_ENST00000540902.1_Missense_Mutation_p.C11F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	662					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACTAATATTTGCTCTGATGGG	0.443																																						uc004axj.2																			0				ovary(2)|pancreas(1)	3						c.(1984-1986)TGC>TTC		tudor domain containing 7							190.0	171.0	177.0					9																	100235814		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100235814G>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1985G>T	9.37:g.100235814G>T	ENSP00000347444:p.Cys662Phe					TDRD7_uc011lux.1_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.1_Missense_Mutation_p.C11F	p.C662F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			11	2210	+		Acute lymphoblastic leukemia(62;0.158)	662					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1985G>T	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515821	0.44763	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.30714	2.99;2.99;1.52	4.23	4.23	0.50019	Maternal tudor protein (1);	0.084537	0.85682	D	0.000000	T	0.28134	0.0694	M	0.63428	1.95	0.58432	D	0.999996	P;B	0.34934	0.476;0.068	B;B	0.35413	0.202;0.082	T	0.02654	-1.1128	10	0.09843	T	0.71	-14.0043	12.1121	0.53846	0.0:0.0:0.8278:0.1722	.	11;662	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	F	662;588;11	ENSP00000347444:C662F;ENSP00000413608:C588F;ENSP00000440717:C11F	ENSP00000347444:C662F	C	+	2	0	TDRD7	99275635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.878000	0.48515	2.653000	0.90120	0.585000	0.79938	TGC		0.443	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
HSDL2	84263	broad.mit.edu	37	9	115181194	115181194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:115181194delA	ENST00000398805.3	+	6	781	c.554delA	c.(553-555)gaafs	p.E185fs	HSDL2_ENST00000262542.7_Frame_Shift_Del_p.E65fs|HSDL2_ENST00000539114.1_Intron|HSDL2_ENST00000398803.1_Frame_Shift_Del_p.E112fs|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	185						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGGCAGAAGAATTTAAAGGT	0.284																																						uc004bga.1																			0					0						c.(553-555)GAAfs		hydroxysteroid dehydrogenase like 2							134.0	127.0	129.0					9																	115181194		1849	4081	5930	SO:0001589	frameshift_variant	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115181194delA	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.554delA	9.37:g.115181194delA	ENSP00000381785:p.Glu185fs					HSDL2_uc011lwv.1_Frame_Shift_Del_p.E64fs|HSDL2_uc004bgb.1_Frame_Shift_Del_p.N36fs|HSDL2_uc004bgc.1_Frame_Shift_Del_p.E112fs|HSDL2_uc011lww.1_Intron	p.E185fs	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN			6	647	+			185					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Frame_Shift_Del	DEL	ENST00000398805.3	37	c.554delA	CCDS43864.1																																																																																				0.284	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303	
CDK5RAP2	55755	broad.mit.edu	37	9	123313122	123313122	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:123313122T>A	ENST00000349780.4	-	4	433	c.254A>T	c.(253-255)gAg>gTg	p.E85V	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E85V|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E85V|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E85V	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	85					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATTCTTTCCTCAAGGAAATA	0.383																																						uc004bkf.2																			0				ovary(2)|lung(1)|skin(1)	4						c.(253-255)GAG>GTG		CDK5 regulatory subunit associated protein 2							149.0	149.0	149.0					9																	123313122		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123313122T>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.254A>T	9.37:g.123313122T>A	ENSP00000343818:p.Glu85Val					CDK5RAP2_uc004bkg.2_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V	p.E85V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			4	435	-			85					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.254A>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952076	0.92660	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	6.08	6.08	0.98989	Spindle associated (1);	0.000000	0.64402	D	0.000014	T	0.63094	0.2482	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70321	-0.4904	10	0.87932	D	0	.	15.6338	0.76933	0.0:0.0:0.0:1.0	.	85;85;85	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	V	85	ENSP00000354065:E85V;ENSP00000352258:E85V;ENSP00000343818:E85V;ENSP00000353317:E85V	ENSP00000341695:E85V	E	-	2	0	CDK5RAP2	122352943	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.545000	0.82128	2.333000	0.79357	0.482000	0.46254	GAG		0.383	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
TOR1A	1861	broad.mit.edu	37	9	132585088	132585088	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:132585088C>T	ENST00000351698.4	-	2	264	c.216G>A	c.(214-216)caG>caA	p.Q72Q	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	72					ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTGCAAGATGCTGTCCAAAGA	0.483																																						uc004byl.2																			0				central_nervous_system(1)	1						c.(214-216)CAG>CAA		torsin A precursor							125.0	112.0	117.0					9																	132585088		2203	4300	6503	SO:0001819	synonymous_variant	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132585088C>T	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.216G>A	9.37:g.132585088C>T						TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Silent_p.Q72Q	p.Q72Q	NM_000113	NP_000104	O14656	TOR1A_HUMAN			2	293	-		Ovarian(14;0.00556)	72					B2RB58|Q53Y64|Q96CA0	Silent	SNP	ENST00000351698.4	37	c.216G>A	CCDS6930.1																																																																																				0.483	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113	
ATRX	546	broad.mit.edu	37	X	76939674	76939675	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chrX:76939674_76939675delTT	ENST00000373344.5	-	9	1287_1288	c.1073_1074delAA	c.(1072-1074)aaafs	p.K358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	358					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTCAATCAGTTTTTTTGCCTT	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				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		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(1072-1074)AAAfs		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	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:76939674_76939675delTT	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.1073_1074delAA	X.37:g.76939678_76939679delTT	ENSP00000362441:p.Lys358fs					ATRX_uc004ecq.3_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs	p.K358fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	1305_1306	-			358					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1073_1074delAA	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
