#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TTC36	143941	broad.mit.edu	37	11	118399446	118399446	+	Missense_Mutation	SNP	G	G	A	rs377476216		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:118399446G>A	ENST00000302783.4	+	2	270	c.247G>A	c.(247-249)Gag>Aag	p.E83K	RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000359862.4_5'Flank|TMEM25_ENST00000411589.2_5'Flank|TMEM25_ENST00000442938.2_5'Flank|TMEM25_ENST00000524725.1_5'Flank|TMEM25_ENST00000313236.5_5'Flank|TMEM25_ENST00000533102.1_5'Flank|TTC36_ENST00000539546.1_Missense_Mutation_p.E24K|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000354064.7_5'Flank|TMEM25_ENST00000544878.1_5'Flank|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000354284.4_5'Flank	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	83										lung(2)	2						CCTGCTGCCTGAGAGGGCTTC	0.642																																						ENST00000539546.1																			0				lung(2)	2						c.(70-72)Gag>Aag		tetratricopeptide repeat domain 36		G	LYS/GLU	0,4400		0,0,2200	47.0	46.0	46.0		247	2.2	1.0	11		46	1,8589	1.2+/-3.3	0,1,4294	no	missense	TTC36	NM_001080441.1	56	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	83/190	118399446	1,12989	2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118399446G>A	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.247G>A	11.37:g.118399446G>A	ENSP00000307640:p.Glu83Lys					RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000302783.4_Missense_Mutation_p.E83K|RP11-770J1.3_ENST00000554407.1_RNA	p.E24K			A6NLP5	TTC36_HUMAN			3	405	+			83					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.70G>A	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238792	0.22711	0.0	1.16E-4	ENSG00000172425	ENST00000302783;ENST00000539546	T;T	0.59906	0.23;0.23	5.27	2.15	0.27550	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.577107	0.19143	N	0.121660	T	0.41789	0.1174	N	0.21142	0.635	0.34748	D	0.731456	B	0.18968	0.032	B	0.24394	0.053	T	0.41520	-0.9504	10	0.10636	T	0.68	-6.5014	15.2688	0.73683	0.0:0.3887:0.6113:0.0	.	83	A6NLP5	TTC36_HUMAN	K	83;24	ENSP00000307640:E83K;ENSP00000442513:E24K	ENSP00000307640:E83K	E	+	1	0	TTC36	117904656	0.921000	0.31238	0.990000	0.47175	0.997000	0.91878	1.527000	0.35975	0.589000	0.29677	0.561000	0.74099	GAG		0.642	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		18	49	0	0	0	1	0	18	49				
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						ENST00000375541.5																			11	Substitution - Missense(11)	p.A704T(11)	kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2110-2112)Gcc>Acc		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_ENST00000467938.1_3'UTR	p.A704T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704						Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	42	0	0	0	1	0	4	42				
STOX2	56977	broad.mit.edu	37	4	184922519	184922519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr4:184922519C>T	ENST00000308497.4	+	2	1643	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	STOX2_ENST00000511250.1_3'UTR|STOX2_ENST00000438269.1_Nonsense_Mutation_p.Q70*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	70					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGTCAGTCTCAGTTTATTCC	0.488																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(208-210)Cag>Tag		storkhead box 2							105.0	99.0	101.0					4																	184922519		2013	4176	6189	SO:0001587	stop_gained	56977				embryo development|maternal placenta development			g.chr4:184922519C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.208C>T	4.37:g.184922519C>T	ENSP00000311257:p.Gln70*					STOX2_ENST00000438269.1_Nonsense_Mutation_p.Q70*|STOX2_ENST00000511250.1_3'UTR	p.Q70*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	2	1643	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	70					A6H8U4|Q9NPS8	Nonsense_Mutation	SNP	ENST00000308497.4	37	c.208C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780752	0.96929	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.5822	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	70;70;8	.	ENSP00000311257:Q70X	Q	+	1	0	STOX2	185159513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.826000	0.97356	0.655000	0.94253	CAG		0.488	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		15	36	0	0	0	1	0	15	36				
MAP3K1	4214	broad.mit.edu	37	5	56178173	56178173	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:56178173C>G	ENST00000399503.3	+	14	3146	c.3146C>G	c.(3145-3147)tCa>tGa	p.S1049*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1049					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTACTCAGTCAAGACCCTTG	0.438																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3145-3147)tCa>tGa		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							75.0	73.0	73.0					5																	56178173		1876	4090	5966	SO:0001587	stop_gained	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178173C>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3146C>G	5.37:g.56178173C>G	ENSP00000382423:p.Ser1049*						p.S1049*	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3146	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1049						Nonsense_Mutation	SNP	ENST00000399503.3	37	c.3146C>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	39	7.691634	0.98434	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.86	5.86	0.93980	.	0.136871	0.47455	D	0.000240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	.	.	.	X	1049	.	ENSP00000382423:S1049X	S	+	2	0	MAP3K1	56213930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.473000	0.73572	2.778000	0.95560	0.655000	0.94253	TCA		0.438	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		23	33	0	0	0	1	0	23	33				
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	rs201197388		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1324-1326)Gtt>Att		phospholipase C-like 1	Quinacrine(DB01103)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62.0	59.0	60.0		1324	1.0	1.0	2		60	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	442/1096	198949565	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949565G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1324G>A	2.37:g.198949565G>A	ENSP00000402861:p.Val442Ile					PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	p.V442I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1722	+			442			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1324G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	g	2.384	-0.341507	0.05243	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.55413	0.52;0.52	5.94	1.05	0.20165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279290	0.31031	N	0.008399	T	0.30696	0.0773	N	0.13235	0.315	0.22940	N	0.998531	B;B	0.21147	0.052;0.021	B;B	0.24006	0.05;0.05	T	0.18871	-1.0323	9	.	.	.	.	9.6222	0.39727	0.7455:0.0:0.2545:0.0	.	442;368	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	442;344	ENSP00000402861:V442I;ENSP00000414138:V344I	.	V	+	1	0	PLCL1	198657810	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.516000	0.45520	0.161000	0.19458	-0.405000	0.06341	GTT		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		20	54	0	0	0	1	0	20	54				
NDUFS2	4720	broad.mit.edu	37	1	161183498	161183498	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:161183498C>T	ENST00000367993.3	+	13	1720	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	FCER1G_ENST00000289902.1_5'Flank|FCER1G_ENST00000367992.3_5'Flank|NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000392179.4_Silent_p.I424I	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	424					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)	GATGCAAGATCAAGGCTCCTG	0.448																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(1270-1272)atC>atT		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						123.0	116.0	119.0					1																	161183498		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:161183498C>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.1272C>T	1.37:g.161183498C>T						NDUFS2_ENST00000367993.3_Silent_p.I424I|NDUFS2_ENST00000465923.1_3'UTR	p.I424I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		12	1511	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		424					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.1272C>T	CCDS1224.1																																																																																				0.448	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		48	160	0	0	0	1	0	48	160				
RCAN1	1827	broad.mit.edu	37	21	35895881	35895881	+	Missense_Mutation	SNP	T	T	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr21:35895881T>C	ENST00000313806.4	-	2	510	c.380A>G	c.(379-381)cAt>cGt	p.H127R	RCAN1_ENST00000381132.2_Missense_Mutation_p.H72R|RCAN1_ENST00000481448.1_Missense_Mutation_p.H117R|RCAN1_ENST00000381135.3_Missense_Mutation_p.H117R|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000492600.1_Missense_Mutation_p.H72R|RCAN1_ENST00000399272.1_Missense_Mutation_p.H46R	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	127					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTCAGTCTTATGCAGCTGGAG	0.458																																						ENST00000481448.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(349-351)cAt>cGt		regulator of calcineurin 1							134.0	128.0	130.0					21																	35895881		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35895881T>C		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.380A>G	21.37:g.35895881T>C	ENSP00000320768:p.His127Arg					RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000313806.4_Missense_Mutation_p.H127R|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000381132.2_Missense_Mutation_p.H72R|RCAN1_ENST00000381135.3_Missense_Mutation_p.H117R|RCAN1_ENST00000399272.1_Missense_Mutation_p.H46R	p.H117R			P53805	RCAN1_HUMAN			3	836	-			127					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.350A>G	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611638	0.87258	.	.	ENSG00000159200	ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000381135	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.968;0.991	D;D;D;D	0.91635	0.999;0.988;0.978;0.987	D	0.84379	0.0548	9	0.72032	D	0.01	-21.6641	14.8471	0.70267	0.0:0.0:0.0:1.0	.	72;127;46;72	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	R	127;72;46;117;117	.	ENSP00000320768:H127R	H	-	2	0	RCAN1	34817751	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	7.631000	0.83237	2.040000	0.60383	0.533000	0.62120	CAT		0.458	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			29	52	0	0	0	1	0	29	52				
RBM22	55696	broad.mit.edu	37	5	150076426	150076426	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:150076426C>T	ENST00000199814.4	-	5	420	c.299G>A	c.(298-300)gGa>gAa	p.G100E	RBM22_ENST00000447771.2_Missense_Mutation_p.G51E|RBM22_ENST00000540000.1_Missense_Mutation_p.G51E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	100					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAGACAATCCTGCGTCACG	0.388																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(298-300)gGa>gAa		RNA binding motif protein 22							78.0	79.0	79.0					5																	150076426		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150076426C>T	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.299G>A	5.37:g.150076426C>T	ENSP00000199814:p.Gly100Glu					RBM22_ENST00000540000.1_Missense_Mutation_p.G51E|RBM22_ENST00000447771.2_Missense_Mutation_p.G51E	p.G100E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	420	-		Medulloblastoma(196;0.167)	100					A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.299G>A	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110687	0.56398	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771;ENST00000518917;ENST00000521464	T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.02455	0.0075	N	0.02539	-0.55	0.80722	D	1	B	0.22983	0.078	B	0.15484	0.013	T	0.59736	-0.7398	10	0.54805	T	0.06	-6.3701	18.964	0.92687	0.0:1.0:0.0:0.0	.	100	Q9NW64	RBM22_HUMAN	E	100;51;51;93;219	ENSP00000199814:G100E;ENSP00000441594:G51E;ENSP00000412118:G51E;ENSP00000428154:G93E;ENSP00000430946:G219E	ENSP00000199814:G100E	G	-	2	0	RBM22	150056619	1.000000	0.71417	0.964000	0.40570	0.927000	0.56198	5.874000	0.69652	2.480000	0.83734	0.655000	0.94253	GGA		0.388	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		18	39	0	0	0	1	0	18	39				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			7	29	0	0	0	1	0	7	29				
KIAA1549L	25758	broad.mit.edu	37	11	33612907	33612907	+	Missense_Mutation	SNP	G	G	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:33612907G>C	ENST00000321505.4	+	11	3980	c.3800G>C	c.(3799-3801)aGa>aCa	p.R1267T	KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1273T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1267						integral component of membrane (GO:0016021)											CCTCAGGAAAGAGACGTCGCT	0.562																																						ENST00000321505.4																			0											c.(3799-3801)aGa>aCa		KIAA1549-like							74.0	76.0	75.0					11																	33612907		2021	4173	6194	SO:0001583	missense	25758							g.chr11:33612907G>C	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3800G>C	11.37:g.33612907G>C	ENSP00000315295:p.Arg1267Thr					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1273T|KIAA1549L_ENST00000265654.5_Intron	p.R1267T							11	3980	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3800G>C	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.324980|4.324980	0.81580|0.81580	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000536568	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.044402	.|0.85682	.|D	.|0.000000	T|T	0.79106|0.79106	0.4390|0.4390	M|M	0.65975|0.65975	2.015|2.015	0.40983|0.40983	D|D	0.984793|0.984793	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.79792|0.79792	-0.1654|-0.1654	5|9	.|0.56958	.|D	.|0.05	-16.2003|-16.2003	19.6229|19.6229	0.95667|0.95667	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1273	.|E9PAT2	.|.	Q|T	665|1267;1273;1106	.|.	.|ENSP00000315295:R1267T	E|R	+|+	1|2	0|0	C11orf41|C11orf41	33569483|33569483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	7.204000|7.204000	0.77872|0.77872	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		24	37	0	0	0	1	0	24	37				
SPOCK2	9806	broad.mit.edu	37	10	73826823	73826823	+	Silent	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:73826823G>A	ENST00000373109.2	-	8	1209	c.765C>T	c.(763-765)tcC>tcT	p.S255S	SPOCK2_ENST00000317376.4_Silent_p.S255S|SPOCK2_ENST00000536168.1_Silent_p.S255S|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	255					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGTCCAGCTTGGAGAACATCC	0.577																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(763-765)tcC>tcT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							91.0	77.0	82.0					10																	73826823		2203	4300	6503	SO:0001819	synonymous_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826823G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.765C>T	10.37:g.73826823G>A						SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.S255S|SPOCK2_ENST00000536168.1_Silent_p.S255S	p.S255S	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			8	1209	-			255					C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	c.765C>T	CCDS7313.1																																																																																				0.577	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			21	50	0	0	0	1	0	21	50				
PLEKHH3	79990	broad.mit.edu	37	17	40822615	40822615	+	Silent	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr17:40822615G>A	ENST00000591022.1	-	10	1917	c.1530C>T	c.(1528-1530)caC>caT	p.H510H	PLEKHH3_ENST00000412503.1_Silent_p.H507H|PLEKHH3_ENST00000293349.6_Silent_p.H507H|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	510	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AAGGCAGTTCGTGACCGTCTG	0.612																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1519-1521)caC>caT		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							53.0	54.0	54.0					17																	40822615		2203	4300	6503	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40822615G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1530C>T	17.37:g.40822615G>A						PLEKHH3_ENST00000591022.1_Silent_p.H510H|PLEKHH3_ENST00000412503.1_Silent_p.H507H|PLEKHH3_ENST00000456950.2_5'UTR	p.H507H			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	10	1951	-		Breast(137;0.00116)	510			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.1521C>T	CCDS11434.1																																																																																				0.612	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		30	41	0	0	0	1	0	30	41				
KAT6B	23522	broad.mit.edu	37	10	76735311	76735311	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:76735311C>T	ENST00000287239.4	+	8	1705	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.R406W	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	406	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGACCCCACTCGGCCTGGTGC	0.493																																						ENST00000287239.4																			0											c.(1216-1218)Cgg>Tgg		K(lysine) acetyltransferase 6B							113.0	96.0	102.0					10																	76735311		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735311C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1216C>T	10.37:g.76735311C>T	ENSP00000287239:p.Arg406Trp					KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.R406W|KAT6B_ENST00000372714.1_Intron	p.R406W	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	1705	+			406			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1216C>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765663	0.31228	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.78364	-1.16;-1.17	5.73	5.73	0.89815	.	0.000000	0.42821	D	0.000656	T	0.60483	0.2272	N	0.14661	0.345	0.33659	D	0.60947	B;B	0.18013	0.025;0.014	B;B	0.09377	0.004;0.002	T	0.62845	-0.6768	9	.	.	.	-8.4311	12.3891	0.55348	0.0:0.9229:0.0:0.0771	.	406;406	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	W	406	ENSP00000287239:R406W;ENSP00000361796:R406W	.	R	+	1	2	KAT6B	76405317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.890000	0.56220	2.716000	0.92895	0.655000	0.94253	CGG		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		15	56	0	0	0	1	0	15	56				
TNPO2	30000	broad.mit.edu	37	19	12816128	12816128	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr19:12816128C>T	ENST00000592287.1	-	17	2056	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	TNPO2_ENST00000588216.1_Missense_Mutation_p.E650K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E650K|TNPO2_ENST00000425528.1_Missense_Mutation_p.E650K|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650K	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	650					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.E650*(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGGCCCTCGGCCAGGCCG	0.602																																						ENST00000425528.1																			2	Substitution - Nonsense(2)	p.E650*(2)	lung(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1948-1950)Gag>Aag		transportin 2							26.0	28.0	28.0					19																	12816128		2151	4253	6404	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12816128C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1948G>A	19.37:g.12816128C>T	ENSP00000468434:p.Glu650Lys					TNPO2_ENST00000450764.2_Missense_Mutation_p.E650K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E650K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E650K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650K	p.E650K			O14787	TNPO2_HUMAN			18	2305	-			650					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1948G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244711	0.79912	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.918;0.989	D	0.83652	0.0156	10	0.66056	D	0.02	-20.3413	18.4706	0.90773	0.0:1.0:0.0:0.0	.	814;650	Q4LE60;O14787	.;TNPO2_HUMAN	K	814;650;650;650;650;650;650	ENSP00000407182:E650K;ENSP00000389648:E650K;ENSP00000397379:E650K;ENSP00000349321:E650K	ENSP00000349321:E650K	E	-	1	0	TNPO2	12677128	1.000000	0.71417	0.994000	0.49952	0.109000	0.19521	7.461000	0.80834	2.654000	0.90174	0.563000	0.77884	GAG		0.602	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		9	4	0	0	0	1	0	9	4				
ALDH2	217	broad.mit.edu	37	12	112230404	112230404	+	Missense_Mutation	SNP	G	G	T	rs571588910		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr12:112230404G>T	ENST00000261733.2	+	9	962	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	ALDH2_ENST00000416293.3_Missense_Mutation_p.D254Y	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	301					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	TCCCGCAGTGGATTGGGCCGT	0.622			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(901-903)Gat>Tat		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						26.0	25.0	25.0					12																	112230404		2203	4299	6502	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112230404G>T	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.901G>T	12.37:g.112230404G>T	ENSP00000261733:p.Asp301Tyr					ALDH2_ENST00000416293.3_Missense_Mutation_p.D254Y	p.D301Y	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			9	962	+			301					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.901G>T	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447098	0.63178	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.21191	2.02;2.02	5.75	3.88	0.44766	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.135493	0.64402	D	0.000003	T	0.60495	0.2273	H	0.98446	4.235	0.80722	D	1	D;P;D	0.62365	0.991;0.743;0.98	D;B;P	0.67103	0.949;0.409;0.888	T	0.73366	-0.4005	10	0.87932	D	0	.	11.8981	0.52667	0.1455:0.0:0.8545:0.0	.	254;225;301	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	Y	254;301;225;161	ENSP00000403349:D254Y;ENSP00000261733:D301Y	ENSP00000261733:D301Y	D	+	1	0	ALDH2	110714787	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.529000	0.81952	0.732000	0.32470	0.655000	0.94253	GAT		0.622	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		9	17	1	0	2.27111e-07	1	2.34942e-07	9	17				
LLGL1	3996	broad.mit.edu	37	17	18145214	18145214	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr17:18145214C>T	ENST00000316843.4	+	19	2879	c.2783C>T	c.(2782-2784)tCc>tTc	p.S928F		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	928					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TACCTGATATCCCCATCAGAA	0.577																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2782-2784)tCc>tTc		lethal giant larvae homolog 1 (Drosophila)							82.0	80.0	81.0					17																	18145214		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145214C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2783C>T	17.37:g.18145214C>T	ENSP00000321537:p.Ser928Phe						p.S928F	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			19	2879	+	all_neural(463;0.228)		928					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2783C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540038	0.65085	.	.	ENSG00000131899	ENST00000316843	T	0.11063	2.81	5.2	5.2	0.72013	.	0.049133	0.85682	D	0.000000	T	0.41419	0.1158	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.46665	-0.9175	10	0.87932	D	0	-34.933	19.1117	0.93318	0.0:1.0:0.0:0.0	.	928	Q15334	L2GL1_HUMAN	F	928	ENSP00000321537:S928F	ENSP00000321537:S928F	S	+	2	0	LLGL1	18085939	1.000000	0.71417	0.785000	0.31869	0.215000	0.24574	7.391000	0.79828	2.593000	0.87608	0.655000	0.94253	TCC		0.577	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			26	106	0	0	0	1	0	26	106				
ZNF106	64397	broad.mit.edu	37	15	42740457	42740457	+	Missense_Mutation	SNP	C	C	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:42740457C>G	ENST00000263805.4	-	3	3205	c.2879G>C	c.(2878-2880)aGg>aCg	p.R960T	ZNF106_ENST00000565611.1_Missense_Mutation_p.R145T|ZNF106_ENST00000565380.1_Missense_Mutation_p.R188T	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	960					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGTATAGACCTCTCCTGGCT	0.458																																						ENST00000263805.4																			0											c.(2878-2880)aGg>aCg		zinc finger protein 106							168.0	168.0	168.0					15																	42740457		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42740457C>G	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2879G>C	15.37:g.42740457C>G	ENSP00000263805:p.Arg960Thr					ZNF106_ENST00000565611.1_Missense_Mutation_p.R145T|ZNF106_ENST00000565380.1_Missense_Mutation_p.R188T	p.R960T	NM_022473.1	NP_071918.1					3	3205	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2879G>C	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	6.261	0.416325	0.11870	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.41400	1.0	5.23	5.23	0.72850	.	0.639142	0.16605	N	0.207164	T	0.29524	0.0736	L	0.29908	0.895	0.30546	N	0.765982	B;B;B	0.17038	0.012;0.02;0.012	B;B;B	0.16722	0.01;0.016;0.01	T	0.10613	-1.0622	10	0.36615	T	0.2	0.1061	7.6266	0.28216	0.0:0.8641:0.0:0.1359	.	188;960;188	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	T	960;188	ENSP00000263805:R960T	ENSP00000263805:R960T	R	-	2	0	ZFP106	40527749	0.048000	0.20356	0.936000	0.37596	0.023000	0.10783	1.552000	0.36244	2.709000	0.92574	0.655000	0.94253	AGG		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		61	89	0	0	0	1	0	61	89				
ANPEP	290	broad.mit.edu	37	15	90349724	90349724	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:90349724C>T	ENST00000300060.6	-	2	404	c.91G>A	c.(91-93)Gtg>Atg	p.V31M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	31					angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GAGTACACCACTGACAGTGCG	0.627																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(91-93)Gtg>Atg		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						90.0	94.0	93.0					15																	90349724		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349724C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.91G>A	15.37:g.90349724C>T	ENSP00000300060:p.Val31Met						p.V31M	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	404	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		31					Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.91G>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672673	0.47781	.	.	ENSG00000166825	ENST00000300060	T	0.01406	4.93	4.52	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	M	0.84433	2.695	0.44395	D	0.997304	D	0.89917	1.0	D	0.77004	0.989	T	0.00686	-1.1610	10	0.66056	D	0.02	.	10.2376	0.43292	0.0:0.9007:0.0:0.0993	.	31	P15144	AMPN_HUMAN	M	31	ENSP00000300060:V31M	ENSP00000300060:V31M	V	-	1	0	ANPEP	88150728	0.998000	0.40836	0.729000	0.30791	0.253000	0.25986	3.969000	0.56816	0.895000	0.36342	0.467000	0.42956	GTG		0.627	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			34	63	0	0	0	1	0	34	63				
EIF3F	8665	broad.mit.edu	37	11	8013700	8013700	+	Missense_Mutation	SNP	A	A	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:8013700A>G	ENST00000533626.1	+	5	1131	c.505A>G	c.(505-507)Atc>Gtc	p.I169V	EIF3F_ENST00000537635.1_Missense_Mutation_p.I184V|EIF3F_ENST00000449102.2_Missense_Mutation_p.I20V|EIF3F_ENST00000309828.4_Missense_Mutation_p.I169V					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATGAGCTCATCCTGGGCTG	0.463																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(505-507)Atc>Gtc		eukaryotic translation initiation factor 3, subunit F							37.0	35.0	36.0					11																	8013700		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8013700A>G	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.505A>G	11.37:g.8013700A>G	ENSP00000431800:p.Ile169Val					EIF3F_ENST00000449102.2_Missense_Mutation_p.I20V|EIF3F_ENST00000537635.1_Missense_Mutation_p.I184V|EIF3F_ENST00000309828.4_Missense_Mutation_p.I169V	p.I169V			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	1131	+			169			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.505A>G	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.346437	0.61073	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	L	0.37750	1.13	0.58432	D	0.999998	P	0.47191	0.891	P	0.45610	0.487	T	0.11842	-1.0571	10	0.34782	T	0.22	-11.3173	12.4676	0.55768	1.0:0.0:0.0:0.0	.	169	O00303	EIF3F_HUMAN	V	169;184;169;119;20	ENSP00000431800:I169V;ENSP00000442283:I184V;ENSP00000310040:I169V;ENSP00000396929:I20V	ENSP00000310040:I169V	I	+	1	0	EIF3F	7970276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.674000	0.91191	1.986000	0.57962	0.524000	0.50904	ATC		0.463	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		17	26	0	0	0	1	0	17	26				
MT-ND5	4540	broad.mit.edu	37	M	12814	12814	+	Missense_Mutation	SNP	G	G	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chrM:12814G>C	ENST00000361567.2	+	1	478	c.478G>C	c.(478-480)Gcc>Ccc	p.A160P	MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	160			A -> V. {ECO:0000269|PubMed:1757091}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GTTGATGATACGCCCGAGCAG	0.453																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(478-480)Gcc>Ccc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12814G>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.478G>C	M.37:g.12814G>C	ENSP00000354813:p.Ala160Pro						p.A160P			P03915	NU5M_HUMAN			1	478	+			160		A -> V.			Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.478G>C																																																																																					0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		18	83	0	0	0	1	0	18	83				
HIST1H3H	8357	broad.mit.edu	37	6	27778092	27778092	+	Missense_Mutation	SNP	A	A	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr6:27778092A>G	ENST00000369163.2	+	1	251	c.241A>G	c.(241-243)Acc>Gcc	p.T81A	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	81					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)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GGACTTCAAGACCGACTTGCG	0.612																																						ENST00000369163.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						c.(241-243)Acc>Gcc		histone cluster 1, H3h							71.0	65.0	67.0					6																	27778092		2203	4300	6503	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27778092A>G	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.241A>G	6.37:g.27778092A>G	ENSP00000358160:p.Thr81Ala						p.T81A	NM_003536.2	NP_003527.1	P68431	H31_HUMAN			1	251	+			81					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.241A>G	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	13.33	2.205816	0.39003	.	.	ENSG00000203813	ENST00000369163	T	0.42900	0.96	4.33	4.33	0.51752	.	.	.	.	.	T	0.48095	0.1481	.	.	.	0.42463	D	0.992799	.	.	.	.	.	.	T	0.55398	-0.8147	6	0.87932	D	0	.	13.3752	0.60734	1.0:0.0:0.0:0.0	.	.	.	.	A	81	ENSP00000358160:T81A	ENSP00000358160:T81A	T	+	1	0	HIST1H3H	27886071	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.838000	0.75359	1.888000	0.54679	0.533000	0.62120	ACC		0.612	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		22	30	0	0	0	1	0	22	30				
MEOX2	4223	broad.mit.edu	37	7	15725715	15725715	+	Missense_Mutation	SNP	G	G	C	rs373584566		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:15725715G>C	ENST00000262041.5	-	1	722	c.313C>G	c.(313-315)Cgg>Ggg	p.R105G	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	105					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		AGGCTGTGCCGAGCCGCACTC	0.662																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(313-315)Cgg>Ggg		mesenchyme homeobox 2		G	GLY/ARG	0,4378		0,0,2189	13.0	16.0	15.0		313	5.3	1.0	7		15	1,8551		0,1,4275	no	missense	MEOX2	NM_005924.4	125	0,1,6464	CC,CG,GG		0.0117,0.0,0.0077	probably-damaging	105/305	15725715	1,12929	2189	4276	6465	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725715G>C		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.313C>G	7.37:g.15725715G>C	ENSP00000262041:p.Arg105Gly						p.R105G	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	722	-			105					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.313C>G	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315664	0.60524	0.0	1.17E-4	ENSG00000106511	ENST00000262041	D	0.89939	-2.59	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.88883	0.6558	N	0.25647	0.755	0.53688	D	0.999971	D	0.63880	0.993	D	0.71184	0.972	D	0.85372	0.1114	10	0.18710	T	0.47	-16.478	12.2169	0.54412	0.0:0.0:0.7112:0.2888	.	105	P50222	MEOX2_HUMAN	G	105	ENSP00000262041:R105G	ENSP00000262041:R105G	R	-	1	2	MEOX2	15692240	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.649000	0.46656	2.486000	0.83907	0.655000	0.94253	CGG		0.662	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		6	10	0	0	0	1	0	6	10				
PXDNL	137902	broad.mit.edu	37	8	52233422	52233422	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr8:52233422C>T	ENST00000356297.4	-	22	4282	c.4182G>A	c.(4180-4182)ggG>ggA	p.G1394G	PXDNL_ENST00000543296.1_Missense_Mutation_p.V1313M|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1394	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCTGTACACCCTGCCTGCC	0.502																																						ENST00000543296.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3937-3939)Gtg>Atg		peroxidasin homolog (Drosophila)-like							141.0	153.0	149.0					8																	52233422		1954	4149	6103	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52233422C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4182G>A	8.37:g.52233422C>T						PXDNL_ENST00000356297.4_Silent_p.G1394G|RP11-401H2.1_ENST00000521294.1_RNA	p.V1313M			A1KZ92	PXDNL_HUMAN			20	4037	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	0					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3937G>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.287|4.287	0.052370|0.052370	0.08291|0.08291	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000543296	T|T	0.67345|0.66099	-0.26|-0.19	4.29|4.29	-4.56|-4.56	0.03431|0.03431	.|.	.|.	.|.	.|.	.|.	T|T	0.42017|0.42017	0.1184|0.1184	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34329|0.34329	-0.9833|-0.9833	6|6	0.10636|0.33940	T|T	0.68|0.23	.|.	1.8584|1.8584	0.03184|0.03184	0.1496:0.3981:0.1523:0.3|0.1496:0.3981:0.1523:0.3	.|.	.|.	.|.	.|.	D|M	468|1313	ENSP00000428114:G468D|ENSP00000444865:V1313M	ENSP00000428114:G468D|ENSP00000429855:V579M	G|V	-|-	2|1	0|0	PXDNL|PXDNL	52395975|52395975	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.067000|-0.067000	0.11579|0.11579	-1.033000|-1.033000	0.03299|0.03299	-0.136000|-0.136000	0.14681|0.14681	GGT|GTG		0.502	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		43	63	0	0	0	1	0	43	63				
THSD7A	221981	broad.mit.edu	37	7	11457095	11457095	+	Silent	SNP	T	T	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:11457095T>A	ENST00000423059.4	-	17	3770	c.3519A>T	c.(3517-3519)ccA>ccT	p.P1173P	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1173	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTGGGTCCATGGACCCCATT	0.388										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3517-3519)ccA>ccT		thrombospondin, type I, domain containing 7A							63.0	58.0	60.0					7																	11457095		1862	4106	5968	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11457095T>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3519A>T	7.37:g.11457095T>A		HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.P1173P	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	17	3770	-			1173			TSP type-1 11.			Silent	SNP	ENST00000423059.4	37	c.3519A>T	CCDS47543.1																																																																																				0.388	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	20	0	0	0	1	0	3	20				
HERC1	8925	broad.mit.edu	37	15	63908060	63908060	+	Silent	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:63908060G>A	ENST00000443617.2	-	76	14088	c.14001C>T	c.(13999-14001)atC>atT	p.I4667I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4667	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCCACCAGGGATTATAGGAA	0.403																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13999-14001)atC>atT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							72.0	63.0	66.0					15																	63908060		1881	4114	5995	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908060G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14001C>T	15.37:g.63908060G>A							p.I4667I	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			76	14088	-			4667			HECT.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.14001C>T	CCDS45277.1																																																																																				0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	10	0	0	0	1	0	4	10				
PHACTR3	116154	broad.mit.edu	37	20	58349367	58349367	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr20:58349367C>T	ENST00000371015.1	+	7	1463	c.996C>T	c.(994-996)agC>agT	p.S332S	PHACTR3_ENST00000361300.4_Silent_p.S221S|PHACTR3_ENST00000359926.3_Silent_p.S329S|PHACTR3_ENST00000395636.2_Silent_p.S291S|PHACTR3_ENST00000541461.1_Silent_p.S291S|PHACTR3_ENST00000355648.4_Silent_p.S291S|PHACTR3_ENST00000395639.4_Silent_p.S221S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	332						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAACGTCCAGCGTGGAGCGGG	0.522																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(994-996)agC>agT		phosphatase and actin regulator 3							84.0	83.0	83.0					20																	58349367		2203	4300	6503	SO:0001819	synonymous_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58349367C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.996C>T	20.37:g.58349367C>T						PHACTR3_ENST00000541461.1_Silent_p.S291S|PHACTR3_ENST00000355648.4_Silent_p.S291S|PHACTR3_ENST00000395636.2_Silent_p.S291S|PHACTR3_ENST00000395639.4_Silent_p.S221S|PHACTR3_ENST00000361300.4_Silent_p.S221S|PHACTR3_ENST00000359926.3_Silent_p.S329S	p.S332S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		7	1463	+	all_lung(29;0.00344)		332					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	c.996C>T	CCDS13480.1																																																																																				0.522	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		27	43	0	0	0	1	0	27	43				
TSGA10	80705	broad.mit.edu	37	2	99767011	99767011	+	Intron	SNP	C	C	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:99767011C>G	ENST00000393483.3	-	1	225				C2ORF15_ENST00000302513.2_Nonsense_Mutation_p.S31*|C2ORF15_ENST00000409684.1_Nonsense_Mutation_p.S31*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CACATTTGTTCAGCTATCCTA	0.333																																						ENST00000302513.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(91-93)tCa>tGa		chromosome 2 open reading frame 15							52.0	55.0	54.0					2																	99767011		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99767011C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+4144G>C	2.37:g.99767011C>G						TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Nonsense_Mutation_p.S31*	p.S31*	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN			4	728	+			31					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	37	c.92C>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508228	0.96386	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	4.85	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1172	2.9253	0.05783	0.1882:0.5316:0.1816:0.0986	.	.	.	.	X	31	.	ENSP00000302202:S31X	S	+	2	0	C2orf15	99133443	0.045000	0.20229	0.192000	0.23308	0.534000	0.34807	0.601000	0.24119	1.240000	0.43803	0.462000	0.41574	TCA		0.333	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		27	55	0	0	0	1	0	27	55				
ARPC1B	10095	broad.mit.edu	37	7	98984314	98984314	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:98984314C>T	ENST00000451682.1	+	5	380	c.71C>T	c.(70-72)gCc>gTc	p.A24V	ARPC1A_ENST00000432884.2_Silent_p.C339C|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.A24V			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	24					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGAGATTGCCATCTGCCCC	0.557																																						ENST00000451682.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(70-72)gCc>gTc		actin related protein 2/3 complex, subunit 1B, 41kDa							192.0	160.0	171.0					7																	98984314		2203	4300	6503	SO:0001583	missense	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98984314C>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.71C>T	7.37:g.98984314C>T	ENSP00000389631:p.Ala24Val					ARPC1A_ENST00000432884.2_Silent_p.C339C|ARPC1B_ENST00000252725.5_Missense_Mutation_p.A24V|ARPC1B_ENST00000474880.1_3'UTR	p.A24V			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	380	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		24					Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	c.71C>T	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312596	0.81358	.	.	ENSG00000130429	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90764	0.4667	10	0.56958	D	0.05	-39.3916	19.0296	0.92950	0.0:1.0:0.0:0.0	.	24;24	A4D275;O15143	.;ARC1B_HUMAN	V	24	ENSP00000413173:A24V;ENSP00000398620:A24V;ENSP00000252725:A24V;ENSP00000410238:A24V;ENSP00000413067:A24V;ENSP00000403324:A24V;ENSP00000398110:A24V;ENSP00000403211:A24V;ENSP00000388802:A24V;ENSP00000389631:A24V	ENSP00000252725:A24V	A	+	2	0	ARPC1B	98822250	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.818000	0.86416	2.577000	0.86979	0.561000	0.74099	GCC		0.557	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		4	150	0	0	0	1	0	4	150				
ABCC12	94160	broad.mit.edu	37	16	48125076	48125076	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr16:48125076C>T	ENST00000311303.3	-	23	3585	c.3240G>A	c.(3238-3240)acG>acA	p.T1080T	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1080	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTGGCTTGCGTCTCTGTTC	0.532																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3238-3240)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							165.0	154.0	158.0					16																	48125076		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48125076C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3240G>A	16.37:g.48125076C>T						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.T1080T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			23	3585	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1080			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3240G>A	CCDS10730.1																																																																																				0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		72	121	0	0	0	1	0	72	121				
FN1	2335	broad.mit.edu	37	2	216226297	216226297	+	Missense_Mutation	SNP	C	C	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:216226297C>A	ENST00000359671.1	-	45	7407	c.7142G>T	c.(7141-7143)aGa>aTa	p.R2381I	FN1_ENST00000336916.4_Missense_Mutation_p.R2350I|FN1_ENST00000346544.3_Missense_Mutation_p.R2206I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.R2235I|FN1_ENST00000345488.5_Missense_Mutation_p.R2179I|FN1_ENST00000432072.2_Missense_Mutation_p.R2262I|FN1_ENST00000357867.4_Missense_Mutation_p.R2171I|FN1_ENST00000443816.1_Missense_Mutation_p.R2260I|FN1_ENST00000323926.6_Missense_Mutation_p.R2441I|FN1_ENST00000446046.1_Missense_Mutation_p.R2325I|FN1_ENST00000356005.4_Missense_Mutation_p.R2291I|FN1_ENST00000354785.4_Missense_Mutation_p.R2472I			P02751	FINC_HUMAN	fibronectin 1	2381					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGAATCTTCTCTGTCAGCCTG	0.398																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(7414-7416)aGa>aTa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						152.0	158.0	156.0					2																	216226297		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216226297C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7142G>T	2.37:g.216226297C>A	ENSP00000352696:p.Arg2381Ile					FN1_ENST00000446046.1_Missense_Mutation_p.R2325I|FN1_ENST00000443816.1_Missense_Mutation_p.R2260I|FN1_ENST00000432072.2_Missense_Mutation_p.R2262I|FN1_ENST00000421182.1_Missense_Mutation_p.R2235I|FN1_ENST00000359671.1_Missense_Mutation_p.R2381I|FN1_ENST00000357867.4_Missense_Mutation_p.R2171I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.R2291I|FN1_ENST00000346544.3_Missense_Mutation_p.R2206I|FN1_ENST00000345488.5_Missense_Mutation_p.R2179I|FN1_ENST00000336916.4_Missense_Mutation_p.R2350I|FN1_ENST00000323926.6_Missense_Mutation_p.R2441I	p.R2472I			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	46	7784	-		Renal(323;0.127)	2381					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.7415G>T		.	.	.	.	.	.	.	.	.	.	C	16.97	3.268343	0.59540	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;2.23;2.4;0.95;2.49;2.14;2.43;2.12;2.14;1.64;0.94;1.57;0.92	5.9	3.09	0.35607	.	0.670439	0.14972	N	0.287764	T	0.34745	0.0908	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.28933	0.023;0.001;0.023;0.001;0.004;0.001;0.011;0.0;0.001;0.228;0.0	B;B;B;B;B;B;B;B;B;B;B	0.31946	0.033;0.005;0.033;0.008;0.007;0.002;0.015;0.007;0.012;0.138;0.002	T	0.10405	-1.0631	10	0.39692	T	0.17	.	8.5456	0.33419	0.0:0.6346:0.2001:0.1652	.	2262;2441;2171;2291;2325;2350;2382;2235;2260;2472;2381	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	I	2235;2441;2350;2171;2472;2382;2381;2206;2179;2325;2260;2262;2291;1098	ENSP00000394423:R2235I;ENSP00000323534:R2441I;ENSP00000338200:R2350I;ENSP00000350534:R2171I;ENSP00000346839:R2472I;ENSP00000352696:R2381I;ENSP00000265312:R2206I;ENSP00000273049:R2179I;ENSP00000410422:R2325I;ENSP00000415018:R2260I;ENSP00000399538:R2262I;ENSP00000348285:R2291I;ENSP00000416139:R1098I	ENSP00000265313:R2382I	R	-	2	0	FN1	215934542	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.397000	0.20883	0.840000	0.34995	0.650000	0.86243	AGA		0.398	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		35	81	1	0	2.20474e-14	1	2.30728e-14	35	81				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	50	0	0	0	1	0	24	50				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240809	39240809	+	Silent	SNP	C	C	A	rs543157226	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr17:39240809C>A	ENST00000391417.4	+	1	351	c.351C>A	c.(349-351)ccC>ccA	p.P117P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	142	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgcccctgctgctgcC	0.672													c|||	50	0.00998403	0.0363	0.0014	5008	,	,		10551	0.0		0.001	False		,,,				2504	0.0					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(349-351)ccC>ccA		keratin associated protein 4-7							19.0	20.0	19.0					17																	39240809		692	1587	2279	SO:0001819	synonymous_variant	100132476							g.chr17:39240809C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.351C>A	17.37:g.39240809C>A							p.P117P	NM_033061.3	NP_149050.3					1	351	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.351C>A	CCDS45673.1																																																																																				0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	31	1	0	0.115264	1	0.115264	3	31				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			0							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			4	105	0	0	0	1	0	4	105				
SPG20	23111	broad.mit.edu	37	13	36905542	36905542	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr13:36905542C>T	ENST00000451493.1	-	3	1219	c.1002G>A	c.(1000-1002)cgG>cgA	p.R334R	SPG20_ENST00000438666.2_Silent_p.R334R|SPG20_ENST00000494062.2_Silent_p.R334R|SPG20_ENST00000355182.4_Silent_p.R334R|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	334					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTACCTGGAGCCGAAGGTCAG	0.418																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1000-1002)cgG>cgA		spastic paraplegia 20 (Troyer syndrome)							113.0	109.0	110.0					13																	36905542		2203	4300	6503	SO:0001819	synonymous_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36905542C>T	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1002G>A	13.37:g.36905542C>T						SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Silent_p.R334R|SPG20_ENST00000494062.2_Silent_p.R334R|SPG20_ENST00000438666.2_Silent_p.R334R	p.R334R	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	1219	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	334					O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	c.1002G>A	CCDS9356.1																																																																																				0.418	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			29	45	0	0	0	1	0	29	45				
GDI2	2665	broad.mit.edu	37	10	5842629	5842629	+	Missense_Mutation	SNP	T	T	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:5842629T>C	ENST00000380191.4	-	2	375	c.85A>G	c.(85-87)Aaa>Gaa	p.K29E	GDI2_ENST00000380181.3_Missense_Mutation_p.K29E|GDI2_ENST00000380132.4_Missense_Mutation_p.K33E	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	29					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGAAGAACTTTCTTGCCATTC	0.363																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(85-87)Aaa>Gaa		GDP dissociation inhibitor 2							218.0	195.0	202.0					10																	5842629		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5842629T>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.85A>G	10.37:g.5842629T>C	ENSP00000369538:p.Lys29Glu					GDI2_ENST00000380132.4_Missense_Mutation_p.K33E|GDI2_ENST00000380181.3_Missense_Mutation_p.K29E	p.K29E	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			2	375	-			29					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.85A>G	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882526	0.91740	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000380127	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.14	5.14	0.70334	.	0.042149	0.85682	D	0.000000	D	0.82623	0.5077	M	0.92459	3.31	0.80722	D	1	D;D;P	0.60575	0.965;0.988;0.933	P;D;P	0.65573	0.887;0.936;0.776	D	0.87293	0.2300	10	0.87932	D	0	-24.8057	14.9073	0.70730	0.0:0.0:0.0:1.0	.	33;29;29	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	E	29;33;29;29;33	ENSP00000369538:K29E;ENSP00000369475:K33E;ENSP00000369528:K29E;ENSP00000401733:K29E;ENSP00000369470:K33E	ENSP00000369470:K33E	K	-	1	0	GDI2	5882635	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.895000	0.87343	2.053000	0.61076	0.533000	0.62120	AAA		0.363	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		33	67	0	0	0	1	0	33	67				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	23	0	0	0	1	0	3	23				
AIM1	202	broad.mit.edu	37	6	106967568	106967568	+	Missense_Mutation	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr6:106967568G>A	ENST00000369066.3	+	2	1748	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCTTGTACTTGAAAATGTAAC	0.473																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(1261-1263)Gaa>Aaa		absent in melanoma 1							94.0	92.0	93.0					6																	106967568		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967568G>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1261G>A	6.37:g.106967568G>A	ENSP00000358062:p.Glu421Lys						p.E421K	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	1748	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	421					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1261G>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861540	0.51482	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.73047	-0.71	5.7	3.9	0.45041	.	0.297039	0.24363	N	0.039180	T	0.46210	0.1381	L	0.56769	1.78	0.24949	N	0.991804	B	0.14438	0.01	B	0.12837	0.008	T	0.47636	-0.9102	10	0.52906	T	0.07	.	8.1851	0.31335	0.1869:0.0:0.8131:0.0	.	421	Q9Y4K1	AIM1_HUMAN	K	829;421	ENSP00000358062:E421K	ENSP00000285105:E829K	E	+	1	0	AIM1	107074261	0.089000	0.21612	0.190000	0.23270	0.206000	0.24218	1.531000	0.36018	0.737000	0.32582	0.655000	0.94253	GAA		0.473	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			18	51	0	0	0	1	0	18	51				
ESF1	51575	broad.mit.edu	37	20	13753238	13753238	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr20:13753238C>T	ENST00000202816.1	-	5	1280	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCATCCTCTCCTTTCCAAATT	0.353																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1171-1173)aaG>aaA		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							145.0	137.0	140.0					20																	13753238		2203	4300	6503	SO:0001819	synonymous_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13753238C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1173G>A	20.37:g.13753238C>T							p.K391K	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			5	1280	-			391					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Silent	SNP	ENST00000202816.1	37	c.1173G>A	CCDS13117.1																																																																																				0.353	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		12	77	0	0	0	1	0	12	77				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	33	0	0	0	1	0	3	33				
CNTNAP5	129684	broad.mit.edu	37	2	125175105	125175105	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:125175105C>T	ENST00000431078.1	+	4	831	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	156	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGCTTTGTGCCCCTGGAATGG	0.488																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(466-468)cCc>cTc		contactin associated protein-like 5							95.0	99.0	98.0					2																	125175105		1983	4167	6150	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175105C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.467C>T	2.37:g.125175105C>T	ENSP00000399013:p.Pro156Leu						p.P156L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	831	+			156			F5/8 type C.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.467C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878786	0.91740	.	.	ENSG00000155052	ENST00000431078	D	0.98060	-4.69	6.17	5.29	0.74685	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.49305	D	0.000153	D	0.99208	0.9725	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98776	1.0730	10	0.87932	D	0	.	16.4191	0.83752	0.0:0.8684:0.1316:0.0	.	156	Q8WYK1	CNTP5_HUMAN	L	156	ENSP00000399013:P156L	ENSP00000399013:P156L	P	+	2	0	CNTNAP5	124891575	1.000000	0.71417	0.825000	0.32803	0.946000	0.59487	7.351000	0.79395	1.611000	0.50210	0.655000	0.94253	CCC		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			7	17	0	0	0	1	0	7	17				
DNAJC13	23317	broad.mit.edu	37	3	132231901	132231901	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:132231901C>T	ENST00000260818.6	+	45	5591	c.5343C>T	c.(5341-5343)ctC>ctT	p.L1781L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1781					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTCTCTTCTCCGAGTTCATG	0.383																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(5341-5343)ctC>ctT		DnaJ (Hsp40) homolog, subfamily C, member 13							158.0	154.0	156.0					3																	132231901		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132231901C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5343C>T	3.37:g.132231901C>T							p.L1781L	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			45	5591	+			1781					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.5343C>T	CCDS33857.1																																																																																				0.383	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		18	50	0	0	0	1	0	18	50				
CNNM1	26507	broad.mit.edu	37	10	101090713	101090713	+	Missense_Mutation	SNP	G	G	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:101090713G>C	ENST00000356713.4	+	1	1858	c.1569G>C	c.(1567-1569)aaG>aaC	p.K523N	CNNM1_ENST00000370534.4_Missense_Mutation_p.K158N|CNNM1_ENST00000446890.1_Missense_Mutation_p.K452N|CNNM1_ENST00000370528.3_Missense_Mutation_p.K452N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	523	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGGAGTTTAAGAAGGGTGAGC	0.517																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1567-1569)aaG>aaC		cyclin M1							50.0	51.0	51.0					10																	101090713		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101090713G>C	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1569G>C	10.37:g.101090713G>C	ENSP00000349147:p.Lys523Asn					CNNM1_ENST00000370528.3_Missense_Mutation_p.K452N|CNNM1_ENST00000370534.4_Missense_Mutation_p.K158N|CNNM1_ENST00000446890.1_Missense_Mutation_p.K452N	p.K523N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	1858	+		Colorectal(252;0.234)	523			CBS 2.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1569G>C	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558051	0.45590	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.54	1.65	0.23941	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.95156	0.8430	M	0.67569	2.06	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.982;0.999;0.999;0.978	D	0.93662	0.6982	10	0.87932	D	0	-0.8522	9.8378	0.40980	0.2166:0.0:0.7834:0.0	.	158;523;158;523	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	N	523;452;452;158	ENSP00000349147:K523N;ENSP00000406492:K452N;ENSP00000359559:K452N;ENSP00000359565:K158N	ENSP00000349147:K523N	K	+	3	2	CNNM1	101080703	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.492000	0.66893	0.167000	0.19631	0.462000	0.41574	AAG		0.517	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		32	49	0	0	0	1	0	32	49				
FUT4	2526	broad.mit.edu	37	11	94277440	94277440	+	Silent	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:94277440G>A	ENST00000358752.2	+	1	424	c.141G>A	c.(139-141)gtG>gtA	p.V47V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	47					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACGGGCGGTGCCCGGTTGGG	0.761																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(139-141)gtG>gtA		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							6.0	8.0	7.0					11																	94277440		2043	4091	6134	SO:0001819	synonymous_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94277440G>A		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.141G>A	11.37:g.94277440G>A							p.V47V	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	424	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	47					B2RMS0	Silent	SNP	ENST00000358752.2	37	c.141G>A	CCDS8301.1																																																																																				0.761	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		13	13	0	0	0	1	0	13	13				
MTF1	4520	broad.mit.edu	37	1	38280866	38280866	+	Missense_Mutation	SNP	A	A	G	rs201482284		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:38280866A>G	ENST00000373036.4	-	11	2344	c.2204T>C	c.(2203-2205)aTt>aCt	p.I735T		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	735					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAGTGCTTCAATGGGAATCAG	0.552																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(2203-2205)aTt>aCt		metal-regulatory transcription factor 1		A	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	86.0	84.0	84.0		2204	3.4	1.0	1		84	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MTF1	NM_005955.2	89	0,5,6498	GG,GA,AA		0.0465,0.0227,0.0384	benign	735/754	38280866	5,13001	2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38280866A>G	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.2204T>C	1.37:g.38280866A>G	ENSP00000362127:p.Ile735Thr						p.I735T	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			11	2344	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	735					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.2204T>C	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248447	0.39797	2.27E-4	4.65E-4	ENSG00000188786	ENST00000373036	T	0.13420	2.59	5.71	3.37	0.38596	.	0.077886	0.53938	D	0.000058	T	0.14960	0.0361	M	0.61703	1.905	0.34706	D	0.727226	B	0.02656	0.0	B	0.04013	0.001	T	0.06303	-1.0834	10	0.87932	D	0	.	8.2267	0.31572	0.7908:0.1393:0.0699:0.0	.	735	Q14872	MTF1_HUMAN	T	735	ENSP00000362127:I735T	ENSP00000362127:I735T	I	-	2	0	MTF1	38053453	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.520000	0.67080	0.435000	0.26365	0.460000	0.39030	ATT		0.552	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		32	45	0	0	0	1	0	32	45				
RYR2	6262	broad.mit.edu	37	1	237794725	237794725	+	Splice_Site	SNP	A	A	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:237794725A>G	ENST00000366574.2	+	42	6757		c.e42-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCCTTTCTAGGGATATTAT	0.403																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e42-1		ryanodine receptor 2 (cardiac)							76.0	74.0	75.0					1																	237794725		1928	4165	6093	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794725A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6441-1A>G	1.37:g.237794725A>G						RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site		NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6757	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37		CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495701	0.64186	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7731	0.78187	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235861348	1.000000	0.71417	0.996000	0.52242	0.532000	0.34746	9.287000	0.95975	2.183000	0.69458	0.528000	0.53228	.		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	22	17	0	0	0	1	0	22	17				
HTRA2	27429	broad.mit.edu	37	2	74757203	74757203	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:74757203C>T	ENST00000258080.3	+	1	700	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Missense_Mutation_p.R24C	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	24					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.R24C(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GGGGGGCATTCGCTGGGGGAG	0.711																																						ENST00000258080.3																			1	Substitution - Missense(1)	p.R24C(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(70-72)Cgc>Tgc		HtrA serine peptidase 2							14.0	20.0	18.0					2																	74757203		2101	4177	6278	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757203C>T		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.70C>T	2.37:g.74757203C>T	ENSP00000258080:p.Arg24Cys					HTRA2_ENST00000352222.3_Missense_Mutation_p.R24C|HTRA2_ENST00000467961.1_Intron	p.R24C	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	700	+			24					Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.70C>T	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	c	9.786	1.176580	0.21704	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.19669	2.13;2.13;2.13	4.8	2.93	0.34026	.	0.802333	0.11002	N	0.610376	T	0.13372	0.0324	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.18178	-1.0345	10	0.62326	D	0.03	0.267	6.5147	0.22242	0.0:0.6933:0.0:0.3067	.	24;24;24;24	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	C	24;24;11	ENSP00000258080:R24C;ENSP00000312893:R24C;ENSP00000399166:R11C	ENSP00000258080:R24C	R	+	1	0	HTRA2	74610711	0.000000	0.05858	0.050000	0.19076	0.144000	0.21451	0.245000	0.18142	1.213000	0.43380	0.457000	0.33378	CGC		0.711	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		20	40	0	0	0	1	0	20	40				
ALKBH6	84964	broad.mit.edu	37	19	36501939	36501939	+	Missense_Mutation	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr19:36501939G>A	ENST00000252984.7	-	6	345	c.193C>T	c.(193-195)Cct>Tct	p.P65S	SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000486389.1_Missense_Mutation_p.P42S|ALKBH6_ENST00000485128.1_Missense_Mutation_p.P65S|ALKBH6_ENST00000378875.3_Missense_Mutation_p.P93S|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000324444.3_5'Flank			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGATGAGGAAGCCCACCT	0.602																																						ENST00000486389.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9						c.(124-126)Cct>Tct		alkB, alkylation repair homolog 6 (E. coli)							26.0	23.0	24.0					19																	36501939		2203	4298	6501	SO:0001583	missense	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501939G>A	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.193C>T	19.37:g.36501939G>A	ENSP00000252984:p.Pro65Ser					ALKBH6_ENST00000485128.1_Missense_Mutation_p.P65S|ALKBH6_ENST00000378875.3_Missense_Mutation_p.P93S|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000252984.7_Missense_Mutation_p.P65S|ALKBH6_ENST00000495116.2_Intron	p.P42S			Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	872	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		65					A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	G	19.50	3.840198	0.71488	.	.	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.27557	2.91;1.66;1.66	5.06	5.06	0.68205	.	.	.	.	.	T	0.49966	0.1588	M	0.63208	1.945	0.58432	D	0.999998	D;D;P;D	0.89917	1.0;1.0;0.913;0.992	D;D;P;D	0.97110	1.0;1.0;0.591;0.934	T	0.36915	-0.9728	9	0.22109	T	0.4	.	13.9305	0.63991	0.0:0.0:1.0:0.0	.	65;86;93;65	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	S	93;65;65;65	ENSP00000368152:P93S;ENSP00000436742:P65S;ENSP00000252984:P65S	ENSP00000252984:P65S	P	-	1	0	ALKBH6	41193779	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.250000	0.58772	2.349000	0.79799	0.591000	0.81541	CCT		0.602	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		9	14	0	0	0	1	0	9	14				
SPOCK2	9806	broad.mit.edu	37	10	73826824	73826824	+	Missense_Mutation	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:73826824G>A	ENST00000373109.2	-	8	1208	c.764C>T	c.(763-765)tCc>tTc	p.S255F	SPOCK2_ENST00000317376.4_Missense_Mutation_p.S255F|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S255F|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	255					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTCCAGCTTGGAGAACATCCA	0.582																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(763-765)tCc>tTc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							90.0	77.0	81.0					10																	73826824		2203	4300	6503	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826824G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.764C>T	10.37:g.73826824G>A	ENSP00000362201:p.Ser255Phe					SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.S255F|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S255F	p.S255F	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			8	1208	-			255					C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.764C>T	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594000	0.66219	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.55413	0.52;0.52	5.13	5.13	0.70059	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.118493	0.64402	D	0.000016	T	0.73418	0.3584	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.77670	-0.2501	10	0.87932	D	0	.	18.1875	0.89796	0.0:0.0:1.0:0.0	.	255	Q92563	TICN2_HUMAN	F	252;255;255	ENSP00000321108:S255F;ENSP00000439445:S255F	ENSP00000321108:S255F	S	-	2	0	SPOCK2	73496830	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	5.544000	0.67231	2.388000	0.81334	0.561000	0.74099	TCC		0.582	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			22	51	0	0	0	1	0	22	51				
FN1	2335	broad.mit.edu	37	2	216226313	216226313	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:216226313C>T	ENST00000359671.1	-	45	7391	c.7126G>A	c.(7126-7128)Gat>Aat	p.D2376N	FN1_ENST00000336916.4_Missense_Mutation_p.D2345N|FN1_ENST00000346544.3_Missense_Mutation_p.D2201N|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.D2230N|FN1_ENST00000345488.5_Missense_Mutation_p.D2174N|FN1_ENST00000432072.2_Missense_Mutation_p.D2257N|FN1_ENST00000357867.4_Missense_Mutation_p.D2166N|FN1_ENST00000443816.1_Missense_Mutation_p.D2255N|FN1_ENST00000323926.6_Missense_Mutation_p.D2436N|FN1_ENST00000446046.1_Missense_Mutation_p.D2320N|FN1_ENST00000356005.4_Missense_Mutation_p.D2286N|FN1_ENST00000354785.4_Missense_Mutation_p.D2467N			P02751	FINC_HUMAN	fibronectin 1	2376					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCCTGTACATCTAAAGGCATG	0.373																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(7399-7401)Gat>Aat		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						148.0	154.0	152.0					2																	216226313		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216226313C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7126G>A	2.37:g.216226313C>T	ENSP00000352696:p.Asp2376Asn					FN1_ENST00000446046.1_Missense_Mutation_p.D2320N|FN1_ENST00000443816.1_Missense_Mutation_p.D2255N|FN1_ENST00000432072.2_Missense_Mutation_p.D2257N|FN1_ENST00000421182.1_Missense_Mutation_p.D2230N|FN1_ENST00000359671.1_Missense_Mutation_p.D2376N|FN1_ENST00000357867.4_Missense_Mutation_p.D2166N|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.D2286N|FN1_ENST00000346544.3_Missense_Mutation_p.D2201N|FN1_ENST00000345488.5_Missense_Mutation_p.D2174N|FN1_ENST00000336916.4_Missense_Mutation_p.D2345N|FN1_ENST00000323926.6_Missense_Mutation_p.D2436N	p.D2467N			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	46	7768	-		Renal(323;0.127)	2376					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.7399G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.500791	0.85176	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;1.99;2.17;0.71;2.27;1.93;2.13;1.9;1.88;1.38;0.69;1.34;0.72	6.16	5.28	0.74379	.	0.336502	0.28927	N	0.013695	T	0.66247	0.2770	M	0.65975	2.015	0.80722	D	1	B;B;P;D;D;D;D;D;D;P;P	0.71674	0.421;0.214;0.649;0.986;0.976;0.984;0.997;0.998;0.998;0.473;0.949	B;B;B;D;P;P;D;D;D;B;P	0.85130	0.322;0.187;0.322;0.909;0.857;0.879;0.993;0.997;0.997;0.277;0.776	T	0.69401	-0.5155	10	0.72032	D	0.01	.	13.1509	0.59488	0.1277:0.7495:0.1228:0.0	.	2257;2436;2166;2286;2320;2345;2377;2230;2255;2467;2376	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	N	2230;2436;2345;2166;2467;2377;2376;2201;2174;2320;2255;2257;2286;1093	ENSP00000394423:D2230N;ENSP00000323534:D2436N;ENSP00000338200:D2345N;ENSP00000350534:D2166N;ENSP00000346839:D2467N;ENSP00000352696:D2376N;ENSP00000265312:D2201N;ENSP00000273049:D2174N;ENSP00000410422:D2320N;ENSP00000415018:D2255N;ENSP00000399538:D2257N;ENSP00000348285:D2286N;ENSP00000416139:D1093N	ENSP00000265313:D2377N	D	-	1	0	FN1	215934558	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.617000	0.61204	1.591000	0.50007	0.650000	0.86243	GAT		0.373	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		35	77	0	0	0	1	0	35	77				
ANKRD26	22852	broad.mit.edu	37	10	27382395	27382395	+	Missense_Mutation	SNP	A	A	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:27382395A>T	ENST00000376087.4	-	3	579	c.414T>A	c.(412-414)gaT>gaA	p.D138E	ANKRD26_ENST00000436985.2_Missense_Mutation_p.D138E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	138					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CAAGATTTGGATCAGCACCAT	0.408																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(412-414)gaT>gaA		ankyrin repeat domain 26							174.0	163.0	167.0					10																	27382395		2025	4219	6244	SO:0001583	missense	22852					centrosome		g.chr10:27382395A>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.414T>A	10.37:g.27382395A>T	ENSP00000365255:p.Asp138Glu					ANKRD26_ENST00000436985.2_Missense_Mutation_p.D138E	p.D138E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			3	579	-			138					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.414T>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677784	0.88445	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.59224	0.28;0.28	4.15	-0.426	0.12314	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.53899	0.1825	M	0.62154	1.92	0.80722	D	1	P;P	0.41393	0.704;0.748	B;B	0.41946	0.255;0.371	T	0.54616	-0.8267	9	0.72032	D	0.01	.	10.5334	0.44990	0.2188:0.0:0.7812:0.0	.	138;138	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	E	138	ENSP00000365255:D138E;ENSP00000405112:D138E	ENSP00000365255:D138E	D	-	3	2	ANKRD26	27422401	0.964000	0.33143	0.004000	0.12327	0.870000	0.49936	0.036000	0.13819	-0.378000	0.07918	0.397000	0.26171	GAT		0.408	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			28	67	0	0	0	1	0	28	67				
C10orf2	56652	broad.mit.edu	37	10	102749139	102749139	+	Missense_Mutation	SNP	G	G	A	rs556445621		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:102749139G>A	ENST00000311916.2	+	1	1357	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.R391H|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	391	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTGGCCTCCGCTGGAGCCGC	0.552													g|||	1	0.000199681	0.0	0.0	5008	,	,		18759	0.001		0.0	False		,,,				2504	0.0					ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1171-1173)cGc>cAc		chromosome 10 open reading frame 2							64.0	69.0	67.0					10																	102749139		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749139G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1172G>A	10.37:g.102749139G>A	ENSP00000309595:p.Arg391His					C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Missense_Mutation_p.R391H	p.R391H	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1357	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	391			SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.1172G>A	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	g	13.28	2.190103	0.38707	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.94280	-3.39;-3.39	6.03	3.19	0.36642	DNA helicase, DnaB-like, C-terminal (1);	0.299817	0.34676	N	0.003765	D	0.92149	0.7511	L	0.50333	1.59	0.34266	D	0.68043	B;D	0.65815	0.007;0.995	B;P	0.58266	0.004;0.836	D	0.89255	0.3593	10	0.15066	T	0.55	-11.0771	5.5226	0.16941	0.2073:0.283:0.5097:0.0	.	391;391	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	H	391	ENSP00000309595:R391H;ENSP00000359248:R391H	ENSP00000309595:R391H	R	+	2	0	C10orf2	102739129	1.000000	0.71417	0.943000	0.38184	0.034000	0.12701	2.637000	0.46553	0.438000	0.26450	-0.264000	0.10439	CGC		0.552	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		44	66	0	0	0	1	0	44	66				
ATP8B3	148229	broad.mit.edu	37	19	1811611	1811611	+	Missense_Mutation	SNP	C	C	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr19:1811611C>G	ENST00000310127.6	-	2	363	c.125G>C	c.(124-126)gGc>gCc	p.G42A	ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.2_5'UTR|ATP8B3_ENST00000539485.1_Missense_Mutation_p.G42A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	42					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCGGATGCCAGCAGGACC	0.677																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(124-126)gGc>gCc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							53.0	60.0	58.0					19																	1811611		2077	4201	6278	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1811611C>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.125G>C	19.37:g.1811611C>G	ENSP00000311336:p.Gly42Ala					ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.1_5'UTR|ATP8B3_ENST00000310127.6_Missense_Mutation_p.G42A	p.G42A			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	358	-		Hepatocellular(1079;0.137)	42					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.125G>C	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.15|10.15	1.270316|1.270316	0.23221|0.23221	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000533993|ENST00000310127;ENST00000539485	.|T;T	.|0.73681	.|-0.77;-0.77	2.42|2.42	0.826|0.826	0.18829|0.18829	.|.	.|.	.|.	.|.	.|.	T|T	0.44932|0.44932	0.1317|0.1317	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.40970	.|0.734	.|B	.|0.37015	.|0.239	T|T	0.36261|0.36261	-0.9755|-0.9755	5|9	.|0.10111	.|T	.|0.7	.|.	4.0543|4.0543	0.09810|0.09810	0.0:0.6782:0.0:0.3218|0.0:0.6782:0.0:0.3218	.|.	.|42	.|O60423	.|AT8B3_HUMAN	P|A	5|42	.|ENSP00000311336:G42A;ENSP00000443574:G42A	.|ENSP00000311336:G42A	A|G	-|-	1|2	0|0	ATP8B3|ATP8B3	1762611|1762611	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.007000|0.007000	0.05969|0.05969	-0.920000|-0.920000	0.04013|0.04013	0.277000|0.277000	0.22141|0.22141	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.677	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		8	23	0	0	0	1	0	8	23				
KANSL2	54934	broad.mit.edu	37	12	49054304	49054304	+	Missense_Mutation	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr12:49054304G>A	ENST00000420613.2	-	8	1119	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	KANSL2_ENST00000553086.1_Missense_Mutation_p.P358S|KANSL2_ENST00000548701.1_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.P541S	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	358					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											GGGCAGCAGGGATCCTCAGAG	0.522																																						ENST00000550347.1																			0											c.(1621-1623)Ccc>Tcc		KAT8 regulatory NSL complex subunit 2							58.0	60.0	60.0					12																	49054304		1881	4130	6011	SO:0001583	missense	54934							g.chr12:49054304G>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1072C>T	12.37:g.49054304G>A	ENSP00000415436:p.Pro358Ser					KANSL2_ENST00000420613.2_Missense_Mutation_p.P358S|KANSL2_ENST00000553086.1_Missense_Mutation_p.P358S|KANSL2_ENST00000548701.1_5'UTR	p.P541S			Q9H9L4	CL041_HUMAN			7	1664	-			358					Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	c.1621C>T	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941985	0.34283	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.38	5.38	0.77491	.	0.053592	0.85682	D	0.000000	T	0.51312	0.1667	N	0.21373	0.66	0.80722	D	1	D;B;D;P	0.89917	0.988;0.327;1.0;0.939	P;B;D;P	0.91635	0.839;0.208;0.999;0.634	T	0.46219	-0.9207	10	0.30854	T	0.27	-7.5522	17.9102	0.88931	0.0:0.0:1.0:0.0	.	541;358;163;358	F8VX10;Q9H9L4;Q9H9L4-2;F8VXI8	.;CL041_HUMAN;.;.	S	541;358;106;358	ENSP00000449747:P541S;ENSP00000415436:P358S;ENSP00000447608:P106S;ENSP00000448833:P358S	ENSP00000415436:P358S	P	-	1	0	C12orf41	47340571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.011000	0.93618	2.524000	0.85096	0.460000	0.39030	CCC		0.522	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		15	17	0	0	0	1	0	15	17				
VPS13B	157680	broad.mit.edu	37	8	100523650	100523650	+	Missense_Mutation	SNP	A	A	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr8:100523650A>T	ENST00000358544.2	+	29	4729	c.4618A>T	c.(4618-4620)Aca>Tca	p.T1540S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1515S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1540					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCATACACTGACATCCCGCAA	0.363																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4618-4620)Aca>Tca		vacuolar protein sorting 13 homolog B (yeast)							43.0	41.0	42.0					8																	100523650		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523650A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4618A>T	8.37:g.100523650A>T	ENSP00000351346:p.Thr1540Ser					VPS13B_ENST00000357162.2_Missense_Mutation_p.T1515S|VPS13B_ENST00000395996.1_3'UTR	p.T1540S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4729	+	Breast(36;3.73e-07)		1540					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4618A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.460059	0.63401	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69806	-0.43;-0.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	L	0.57536	1.79	0.80722	D	1	P;P;P	0.42827	0.791;0.791;0.686	B;B;B	0.38327	0.271;0.271;0.14	T	0.61008	-0.7149	10	0.20519	T	0.43	.	15.6332	0.76929	1.0:0.0:0.0:0.0	.	1539;1515;1540	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	S	1515;1540	ENSP00000349685:T1515S;ENSP00000351346:T1540S	ENSP00000349685:T1515S	T	+	1	0	VPS13B	100592826	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.670000	0.61583	2.155000	0.67459	0.477000	0.44152	ACA		0.363	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		23	25	0	0	0	1	0	23	25				
FGD5	152273	broad.mit.edu	37	3	14862664	14862664	+	Missense_Mutation	SNP	G	G	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:14862664G>C	ENST00000285046.5	+	1	2196	c.2086G>C	c.(2086-2088)Gac>Cac	p.D696H	FGD5_ENST00000543601.1_Missense_Mutation_p.D455H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	696					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTGGAAGTTGACCGGAGAAG	0.527																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2086-2088)Gac>Cac		FYVE, RhoGEF and PH domain containing 5							43.0	43.0	43.0					3																	14862664		1891	4120	6011	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862664G>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2086G>C	3.37:g.14862664G>C	ENSP00000285046:p.Asp696His					FGD5_ENST00000543601.1_Missense_Mutation_p.D455H	p.D696H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2196	+			696					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2086G>C	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505842	0.64410	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.78481	-1.18;-0.99	5.03	4.14	0.48551	.	0.191205	0.36444	N	0.002593	D	0.85379	0.5683	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.71674	0.994;0.998	P;P	0.60473	0.845;0.875	D	0.87013	0.2124	10	0.66056	D	0.02	-34.1487	14.0176	0.64533	0.074:0.0:0.926:0.0	.	455;696	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	H	696;455	ENSP00000285046:D696H;ENSP00000445949:D455H	ENSP00000285046:D696H	D	+	1	0	FGD5	14837668	1.000000	0.71417	0.769000	0.31535	0.548000	0.35241	6.185000	0.72013	1.224000	0.43551	0.591000	0.81541	GAC		0.527	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	31	0	0	0	1	0	15	31				
MT-ND4	4538	broad.mit.edu	37	M	11832	11832	+	Silent	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chrM:11832G>A	ENST00000361381.2	+	1	1073	c.1073G>A	c.(1072-1074)tGa>tAa	p.*358*	MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-ND5_ENST00000361567.2_5'Flank			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	358					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						AATAGCTTTTTGATGACTTCT	0.443																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1072-1074)tGa>tAa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:11832G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1073G>A	M.37:g.11832G>A							p.358_358ins*							1	1073	+								Q6RL39|Q6RQN9|Q8HNR8	Nonsense_Mutation	SNP	ENST00000361381.2	37	c.1073G>A																																																																																					0.443	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		86	3	0	0	0	1	0	86	3				
EXOSC10	5394	broad.mit.edu	37	1	11155844	11155844	+	Missense_Mutation	SNP	C	C	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:11155844C>G	ENST00000376936.4	-	3	392	c.343G>C	c.(343-345)Gat>Cat	p.D115H	EXOSC10_ENST00000304457.7_Missense_Mutation_p.D115H|EXOSC10_ENST00000544779.1_Missense_Mutation_p.D115H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	115					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TCATTGGCATCAACTAGTAAA	0.423																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(343-345)Gat>Cat		exosome component 10							297.0	264.0	275.0					1																	11155844		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11155844C>G	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.343G>C	1.37:g.11155844C>G	ENSP00000366135:p.Asp115His					EXOSC10_ENST00000304457.7_Missense_Mutation_p.D115H|EXOSC10_ENST00000376936.4_Missense_Mutation_p.D115H	p.D115H			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	3	348	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	115					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.343G>C	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169925	0.57584	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.5	5.5	0.81552	Exosome-associated factor Rrp6, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.82004	-0.0672	9	0.62326	D	0.03	-26.8169	18.3733	0.90420	0.0:1.0:0.0:0.0	.	115;115	Q01780-2;Q01780	.;EXOSX_HUMAN	H	115	.	ENSP00000307307:D115H	D	-	1	0	EXOSC10	11078431	1.000000	0.71417	0.367000	0.25926	0.088000	0.18126	7.558000	0.82253	2.573000	0.86826	0.561000	0.74099	GAT		0.423	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		43	97	0	0	0	1	0	43	97				
TBR1	10716	broad.mit.edu	37	2	162274722	162274722	+	Silent	SNP	C	C	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr2:162274722C>G	ENST00000389554.3	+	3	1175	c.858C>G	c.(856-858)gtC>gtG	p.V286V	TBR1_ENST00000410035.1_5'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	286					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAAATCGGGTCTATATGCATC	0.463																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(856-858)gtC>gtG		T-box, brain, 1							58.0	61.0	60.0					2																	162274722		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274722C>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.858C>G	2.37:g.162274722C>G						TBR1_ENST00000410035.1_5'UTR	p.V286V	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			3	1175	+			286					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.858C>G	CCDS33310.1																																																																																				0.463	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		15	31	0	0	0	1	0	15	31				
NKAPP1	158801	broad.mit.edu	37	X	119374187	119374187	+	RNA	SNP	G	G	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chrX:119374187G>C	ENST00000592037.1	-	0	4888							Q8N9T2	CX042_HUMAN	NFKB activating protein pseudogene 1																		CCTTTCACTTGAATGACTAGA	0.269																																						ENST00000592037.1																			0																																																			0							g.chrX:119374187G>C	AK093895		Xq24	2010-07-20	2010-07-20	2010-07-20	ENSG00000233382	ENSG00000233382			26706	pseudogene	pseudogene			"""chromosome X open reading frame 42"""	CXorf42			Standard	NR_027131		Approved	FLJ36576	uc004esm.3	Q8N9T2	OTTHUMG00000022295		X.37:g.119374187G>C														0	4888	-								Q05CP2|Q14CJ5|Q7Z3P3	RNA	SNP	ENST00000592037.1	37																																																																																						0.269	NKAPP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460015.1	NM_173522		9	14	0	0	0	1	0	9	14				
ECHS1	1892	broad.mit.edu	37	10	135179592	135179592	+	Silent	SNP	G	G	C			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:135179592G>C	ENST00000368547.3	-	6	982	c.627C>G	c.(625-627)gtC>gtG	p.V209V		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	209					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		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)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AAATCTTGCTGACAAGACCTG	0.478																																					GBM(132;1720 1771 5373 10277 21402)	ENST00000368547.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(625-627)gtC>gtG		enoyl CoA hydratase, short chain, 1, mitochondrial							102.0	88.0	92.0					10																	135179592		2203	4300	6503	SO:0001819	synonymous_variant	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135179592G>C		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.627C>G	10.37:g.135179592G>C							p.V209V	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	6	982	-		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)	209					O00739|Q5VWY1|Q96H54	Silent	SNP	ENST00000368547.3	37	c.627C>G	CCDS7681.1																																																																																				0.478	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			27	39	0	0	0	1	0	27	39				
H1FX	8971	broad.mit.edu	37	3	129034703	129034703	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:129034703C>T	ENST00000333762.4	-	1	417	c.43G>A	c.(43-45)Gag>Aag	p.E15K	H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	15					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						GCCATTCCCTCGGCGGTCGTC	0.652																																						ENST00000333762.4																			0				kidney(1)|ovary(1)|urinary_tract(2)	4						c.(43-45)Gag>Aag		H1 histone family, member X							13.0	12.0	12.0					3																	129034703		2202	4296	6498	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034703C>T	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.43G>A	3.37:g.129034703C>T	ENSP00000329662:p.Glu15Lys					H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA	p.E15K	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN			1	417	-			15						Missense_Mutation	SNP	ENST00000333762.4	37	c.43G>A	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331941	0.24167	.	.	ENSG00000184897	ENST00000333762	T	0.05319	3.46	3.42	2.53	0.30540	.	0.760678	0.10487	U	0.668788	T	0.02610	0.0079	N	0.03608	-0.345	0.24424	N	0.99461	B	0.25955	0.138	B	0.09377	0.004	T	0.47182	-0.9137	10	0.12103	T	0.63	-10.5663	8.4275	0.32737	0.0:0.8753:0.0:0.1247	.	15	Q92522	H1X_HUMAN	K	15	ENSP00000329662:E15K	ENSP00000329662:E15K	E	-	1	0	H1FX	130517393	0.974000	0.33945	0.012000	0.15200	0.002000	0.02628	0.878000	0.28126	0.410000	0.25675	0.561000	0.74099	GAG		0.652	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026		3	9	0	0	0	1	0	3	9				
STXBP3	6814	broad.mit.edu	37	1	109337503	109337503	+	Missense_Mutation	SNP	A	A	G			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:109337503A>G	ENST00000370008.3	+	13	1134	c.1084A>G	c.(1084-1086)Ata>Gta	p.I362V		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	362					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CAAGCTTAATATAGAAAAGCT	0.313																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(1084-1086)Ata>Gta		syntaxin binding protein 3							47.0	46.0	46.0					1																	109337503		2203	4300	6503	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109337503A>G	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1084A>G	1.37:g.109337503A>G	ENSP00000359025:p.Ile362Val						p.I362V	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	13	1134	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	362					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1084A>G	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	1.781	-0.481913	0.04383	.	.	ENSG00000116266	ENST00000370008	T	0.76186	-1.0	4.97	4.97	0.65823	.	0.111536	0.64402	D	0.000004	T	0.24699	0.0599	N	0.01751	-0.74	0.34868	D	0.743341	B	0.06786	0.001	B	0.08055	0.003	T	0.15954	-1.0419	10	0.21540	T	0.41	-22.0885	5.6087	0.17394	0.7147:0.16:0.1253:0.0	.	362	O00186	STXB3_HUMAN	V	362	ENSP00000359025:I362V	ENSP00000359025:I362V	I	+	1	0	STXBP3	109139026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.233000	0.73108	0.529000	0.55759	ATA		0.313	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		21	41	0	0	0	1	0	21	41				
INCENP	3619	broad.mit.edu	37	11	61895702	61895702	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr11:61895702C>T	ENST00000394818.3	+	2	271	c.69C>T	c.(67-69)ctC>ctT	p.L23L	INCENP_ENST00000278849.4_Silent_p.L23L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	23					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGAGTTTCTCTGCAACATGG	0.567																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(67-69)ctC>ctT		inner centromere protein antigens 135/155kDa							92.0	87.0	88.0					11																	61895702		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61895702C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.69C>T	11.37:g.61895702C>T						INCENP_ENST00000278849.4_Silent_p.L23L	p.L23L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			2	271	+			23					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.69C>T	CCDS44624.1																																																																																				0.567	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		21	34	0	0	0	1	0	21	34				
RANBP3L	202151	broad.mit.edu	37	5	36253804	36253804	+	Missense_Mutation	SNP	A	A	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:36253804A>T	ENST00000296604.3	-	12	1597	c.1112T>A	c.(1111-1113)gTa>gAa	p.V371E	RANBP3L_ENST00000502994.1_Missense_Mutation_p.V396E	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	371	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TGTTATTCGTACATTTTTGTG	0.348																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(1111-1113)gTa>gAa		RAN binding protein 3-like							179.0	164.0	169.0					5																	36253804		2203	4299	6502	SO:0001583	missense	202151				intracellular transport			g.chr5:36253804A>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1112T>A	5.37:g.36253804A>T	ENSP00000296604:p.Val371Glu					RANBP3L_ENST00000502994.1_Missense_Mutation_p.V396E	p.V371E	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		12	1597	-	all_lung(31;4.52e-05)		371			RanBD1.		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.1112T>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309200	0.81247	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.41400	1.0;1.0	5.18	5.18	0.71444	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.245190	0.28482	N	0.015187	T	0.51856	0.1699	M	0.84219	2.685	0.80722	D	1	P;P	0.41546	0.754;0.662	B;B	0.42138	0.366;0.377	T	0.61758	-0.6997	10	0.87932	D	0	-2.9276	14.296	0.66314	1.0:0.0:0.0:0.0	.	396;371	E9PGP9;Q86VV4	.;RNB3L_HUMAN	E	371;396	ENSP00000296604:V371E;ENSP00000421853:V396E	ENSP00000296604:V371E	V	-	2	0	RANBP3L	36289561	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	8.330000	0.90019	2.084000	0.62774	0.455000	0.32223	GTA		0.348	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		19	44	0	0	0	1	0	19	44				
RICTOR	253260	broad.mit.edu	37	5	38944564	38944564	+	Missense_Mutation	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr5:38944564C>T	ENST00000357387.3	-	36	4927	c.4897G>A	c.(4897-4899)Gag>Aag	p.E1633K	RICTOR_ENST00000296782.5_Missense_Mutation_p.E1657K	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.E1633Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCCCAGTCTCATGACATTTA	0.323																																						ENST00000357387.3																			1	Substitution - Missense(1)	p.E1633Q(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4897-4899)Gag>Aag		RPTOR independent companion of MTOR, complex 2							117.0	115.0	116.0					5																	38944564		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38944564C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4897G>A	5.37:g.38944564C>T	ENSP00000349959:p.Glu1633Lys					RICTOR_ENST00000296782.5_Missense_Mutation_p.E1657K	p.E1633K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			36	4927	-	all_lung(31;0.000396)		1633						Missense_Mutation	SNP	ENST00000357387.3	37	c.4897G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875346	0.91664	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.46451	0.88;0.87	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.58662	-0.7597	10	0.87932	D	0	-19.5643	19.4767	0.94992	0.0:1.0:0.0:0.0	.	1633;1657	Q6R327;Q6R327-3	RICTR_HUMAN;.	K	1633;1657	ENSP00000349959:E1633K;ENSP00000296782:E1657K	ENSP00000296782:E1657K	E	-	1	0	RICTOR	38980321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.431000	0.66507	2.601000	0.87937	0.563000	0.77884	GAG		0.323	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		58	152	0	0	0	1	0	58	152				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	18	0	0	0	1	0	10	18				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	43	0	0	0	1	0	3	43				
SPOCK2	9806	broad.mit.edu	37	10	73826826	73826826	+	Silent	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr10:73826826G>A	ENST00000373109.2	-	8	1206	c.762C>T	c.(760-762)ttC>ttT	p.F254F	SPOCK2_ENST00000317376.4_Silent_p.F254F|SPOCK2_ENST00000536168.1_Silent_p.F254F|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	254					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCAGCTTGGAGAACATCCAGC	0.577																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(760-762)ttC>ttT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							89.0	76.0	80.0					10																	73826826		2203	4300	6503	SO:0001819	synonymous_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826826G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.762C>T	10.37:g.73826826G>A						SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.F254F|SPOCK2_ENST00000536168.1_Silent_p.F254F	p.F254F	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			8	1206	-			254					C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	c.762C>T	CCDS7313.1																																																																																				0.577	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			20	51	0	0	0	1	0	20	51				
MYT1	4661	broad.mit.edu	37	20	62839704	62839704	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr20:62839704C>T	ENST00000328439.1	+	7	1519	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	MYT1_ENST00000536311.1_Silent_p.I385I|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGGCCATCGCCCTGAAGG	0.657																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1153-1155)atC>atT		myelin transcription factor 1							59.0	52.0	55.0					20																	62839704		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839704C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1155C>T	20.37:g.62839704C>T						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.I385I	p.I385I			Q01538	MYT1_HUMAN			7	1519	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		385					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1155C>T	CCDS13558.1																																																																																				0.657	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		22	40	0	0	0	1	0	22	40				
NPIPB15	440348	broad.mit.edu	37	16	74425609	74425609	+	Missense_Mutation	SNP	C	C	G	rs710958		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr16:74425609C>G	ENST00000429990.1	+	7	1059	c.963C>G	c.(961-963)gaC>gaG	p.D321E				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	321	Pro-rich.					extracellular region (GO:0005576)											ATCTGAAGGACTGTCTCTTTG	0.522																																						ENST00000429990.1																			0											c.(961-963)gaC>gaG		nuclear pore complex interacting protein family, member B15																																				SO:0001583	missense	440348							g.chr16:74425609C>G	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.963C>G	16.37:g.74425609C>G	ENSP00000411140:p.Asp321Glu						p.D321E							7	1059	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.963C>G		.	.	.	.	.	.	.	.	.	.	-	0	-2.648996	0.00109	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.37584	1.19	.	.	.	.	.	.	.	.	T	0.08313	0.0207	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	7	0.02654	T	1	.	.	.	.	.	260	A6NHN6	NPPL2_HUMAN	E	199;321	ENSP00000411140:D321E	ENSP00000411140:D321E	D	+	3	2	NPIPL2	72983110	.	.	0.008000	0.14137	0.008000	0.06430	.	.	-2.328000	0.00635	-2.337000	0.00247	GAC		0.522	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		4	132	0	0	0	1	0	4	132				
ZNF711	7552	broad.mit.edu	37	X	84519424	84519424	+	Missense_Mutation	SNP	G	G	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chrX:84519424G>A	ENST00000373165.3	+	5	1072	c.766G>A	c.(766-768)Gat>Aat	p.D256N	ZNF711_ENST00000276123.3_Missense_Mutation_p.D256N|ZNF711_ENST00000360700.4_Missense_Mutation_p.D256N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D234N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D52N	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	256					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GGCTGAAGATGATGTTGAAAT	0.308																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(766-768)Gat>Aat		zinc finger protein 711							66.0	59.0	61.0					X																	84519424		2201	4296	6497	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84519424G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.766G>A	X.37:g.84519424G>A	ENSP00000362260:p.Asp256Asn					ZNF711_ENST00000276123.3_Missense_Mutation_p.D256N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D234N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D256N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D52N	p.D256N			Q9Y462	ZN711_HUMAN			5	1652	+			256					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.766G>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534056	0.85812	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	4.81	4.81	0.61882	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.45126	D	0.000394	T	0.72301	0.3443	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.961;0.994	T	0.74331	-0.3700	10	0.45353	T	0.12	-12.6314	17.3364	0.87282	0.0:0.0:1.0:0.0	.	256;256	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	234;256;256;256;52	ENSP00000378798:D234N;ENSP00000362260:D256N;ENSP00000276123:D256N;ENSP00000353922:D256N;ENSP00000442071:D52N	ENSP00000276123:D256N	D	+	1	0	ZNF711	84406080	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	9.025000	0.93694	2.105000	0.64084	0.506000	0.49869	GAT		0.308	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		14	24	0	0	0	1	0	14	24				
RYR3	6263	broad.mit.edu	37	15	34140563	34140563	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:34140563C>T	ENST00000389232.4	+	94	13639	c.13569C>T	c.(13567-13569)acC>acT	p.T4523T	RYR3_ENST00000415757.3_Silent_p.T4518T|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4523					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATATATCACCGAACAGCCAT	0.502																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13567-13569)acC>acT		ryanodine receptor 3							78.0	81.0	80.0					15																	34140563		1967	4182	6149	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34140563C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13569C>T	15.37:g.34140563C>T						RYR3_ENST00000415757.3_Silent_p.T4518T|RYR3_ENST00000559917.1_3'UTR	p.T4523T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	94	13639	+		all_lung(180;7.18e-09)	4523					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.13569C>T	CCDS45210.1																																																																																				0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			22	71	0	0	0	1	0	22	71				
DNAJC3	5611	broad.mit.edu	37	13	96439369	96439369	+	Silent	SNP	C	C	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr13:96439369C>T	ENST00000602402.1	+	11	1434	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	DNAJC3_ENST00000376795.6_Silent_p.F388F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	439	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGAAAAAGTTCATTGATATAG	0.383																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1315-1317)ttC>ttT		DnaJ (Hsp40) homolog, subfamily C, member 3							110.0	116.0	114.0					13																	96439369		2203	4300	6503	SO:0001819	synonymous_variant	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96439369C>T	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1317C>T	13.37:g.96439369C>T						DNAJC3_ENST00000376795.6_Silent_p.F388F	p.F439F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		11	1434	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		439			J.		Q86WT9|Q8N4N2	Silent	SNP	ENST00000602402.1	37	c.1317C>T	CCDS9479.1																																																																																				0.383	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			33	70	0	0	0	1	0	33	70				
GBE1	2632	broad.mit.edu	37	3	81754624	81754624	+	Missense_Mutation	SNP	G	G	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr3:81754624G>T	ENST00000429644.2	-	2	927	c.284C>A	c.(283-285)gCa>gAa	p.A95E	GBE1_ENST00000489715.1_Missense_Mutation_p.A54E	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	95					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AACTCCTTCTGCTCCCGGGGC	0.343									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(283-285)gCa>gAa		glucan (1,4-alpha-), branching enzyme 1							48.0	45.0	46.0					3																	81754624		1823	4076	5899	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81754624G>T		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.284C>A	3.37:g.81754624G>T	ENSP00000410833:p.Ala95Glu					GBE1_ENST00000489715.1_Missense_Mutation_p.A54E	p.A95E	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	2	927	-		Lung NSC(201;0.0117)	95					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.284C>A	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587806	0.86851	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.52754	0.65;0.74	5.95	5.95	0.96441	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.82042	0.4951	H	0.97806	4.08	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87940	0.2716	10	0.87932	D	0	-20.6647	19.9916	0.97368	0.0:0.0:1.0:0.0	.	54;95	E9PGM4;Q04446	.;GLGB_HUMAN	E	95;146;54	ENSP00000410833:A95E;ENSP00000419638:A54E	ENSP00000264326:A146E	A	-	2	0	GBE1	81837314	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.158000	0.89649	2.821000	0.97095	0.650000	0.86243	GCA		0.343	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			3	5	1	0	0.115264	1	0.115264	3	5				
CROCCP2	84809	broad.mit.edu	37	1	16948832	16948833	+	lincRNA	INS	-	-	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:16948832_16948833insA	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											tgcctacctagaatggcattaa	0.52																																						ENST00000412962.1																			0																																																			0							g.chr1:16948832_16948833insA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16948834_16948834dupA														0	1000	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.520	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	4						2	4	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1690-1695)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.RQ564fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1755_1758	-			564			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	998						8	998	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186366679	186366680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr4:186366679_186366680insT	ENST00000307588.3	-	7	2553_2554	c.2478_2479insA	c.(2476-2481)aaagacfs	p.D827fs	C4orf47_ENST00000378850.4_Intron|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.D790fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	827						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGAGTTCTGTCTTTAACTTTGA	0.302																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(2476-2481)aaacagfs		coiled-coil domain containing 110																																				SO:0001589	frameshift_variant	256309					nucleus		g.chr4:186366679_186366680insT	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2479dupA	4.37:g.186366682_186366682dupT	ENSP00000306776:p.Asp827fs					C4orf47_ENST00000378850.4_Intron|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.Q790fs	p.Q827fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	7	2553_2554	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	827					Q86YI9|Q8N7W0	Frame_Shift_Ins	INS	ENST00000307588.3	37	c.2478_2479insA	CCDS3843.1																																																																																				0.302	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		21	48						21	48	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30671451	30671452	+	Frame_Shift_Del	DEL	CT	CT	-	rs77465266	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr6:30671451_30671452delCT	ENST00000376406.3	-	10	6155_6156	c.5508_5509delAG	c.(5506-5511)acagtgfs	p.V1837fs	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.V1573fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1837	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TTGATAATCACTGTCTTCTGGG	0.505								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5506-5511)actgfs	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1																																				SO:0001589	frameshift_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671451_30671452delCT	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5508_5509delAG	6.37:g.30671451_30671452delCT	ENSP00000365588:p.Val1837fs					MDC1_ENST00000376405.2_Frame_Shift_Del_p.TV1572fs|MDC1-AS1_ENST00000442150.1_RNA	p.TV1836fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	6155_6156	-			1836			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Del	DEL	ENST00000376406.3	37	c.5508_5509delAG	CCDS34384.1																																																																																				0.505	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		61	99						61	99	---	---	---	---
POLR2J4	84820	broad.mit.edu	37	7	44001630	44001631	+	RNA	INS	-	-	A			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr7:44001630_44001631insA	ENST00000427076.1	-	0	1485_1486				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GTAGTAGCTGGAGGGCAGCACC	0.668																																						ENST00000427076.1																			0																																																			0							g.chr7:44001630_44001631insA			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44001631_44001631dupA								NR_003655.2						0	1485_1486	-									RNA	INS	ENST00000427076.1	37																																																																																						0.668	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		2	4						2	4	---	---	---	---
SPATA31D5P	347127	broad.mit.edu	37	9	84528612	84528614	+	RNA	DEL	TTG	TTG	-	rs374073531|rs140971347	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr9:84528612_84528614delTTG	ENST00000527857.1	+	0	221					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AGATTCCCTCTTGTTGTTTCCCA	0.389														269	0.0537141	0.0998	0.0461	5008	,	,		19697	0.0099		0.0795	False		,,,				2504	0.0153					ENST00000527857.1																			0																																																			0							g.chr9:84528612_84528614delTTG			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528615_84528617delTTG								NR_026851.1						0	221	+									RNA	DEL	ENST00000527857.1	37																																																																																						0.389	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		6	2						6	2	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46215248	46215257	+	Frame_Shift_Del	DEL	AGACTGATAG	AGACTGATAG	-	rs190735394		TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr12:46215248_46215257delAGACTGATAG	ENST00000334344.6	+	6	855_864	c.683_692delAGACTGATAG	c.(682-693)aagactgatagafs	p.KTDR228fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.KTDR79fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	228					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)		TGGAAAGAGAAGACTGATAGAGACTTCGTT	0.281			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				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						c.(682-693)aafs		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.chr12:46215248_46215257delAGACTGATAG		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.683_692delAGACTGATAG	12.37:g.46215248_46215257delAGACTGATAG	ENSP00000335044:p.Lys228fs					ARID2_ENST00000422737.1_Frame_Shift_Del_p.KTDR79fs	p.KTDR228fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	6	855_864	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	228					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.683_692delAGACTGATAG	CCDS31783.1																																																																																				0.281	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	60						9	60	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102296030	102296032	+	RNA	DEL	CTC	CTC	-			TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr15:102296030_102296032delCTC	ENST00000561463.1	+	0	4076_4078									DNM1 pseudogene 47																		AGTTCATCTTCTCGGAGCTGCTG	0.596																																						ENST00000561463.1																			0																																																			0							g.chr15:102296030_102296032delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296030_102296032delCTC														0	4076_4078	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.596	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-4C-A93U-01A-11D-A397-08	TCGA-4C-A93U-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c040cc-1df1-4452-883b-be129a96e900	c986caeb-185d-46b6-97b7-444b7f6c3095	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			4	7						4	7	---	---	---	---
