#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
CPAMD8	27151	broad.mit.edu	37	19	17039029	17039029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:17039029C>A	ENST00000443236.1	-	25	3332	c.3301G>T	c.(3301-3303)Gag>Tag	p.E1101*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1054						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGGATGGCTCTGGACCATGG	0.582																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3301-3303)Gag>Tag		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							30.0	34.0	33.0					19																	17039029		1985	4165	6150	SO:0001587	stop_gained	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039029C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3301G>T	19.37:g.17039029C>A	ENSP00000402505:p.Glu1101*						p.E1101*	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			25	3332	-			1054					Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	ENST00000443236.1	37	c.3301G>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.713722|5.713722	0.96830|0.96830	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.13|3.13	1.95|1.95	0.26073|0.26073	.|.	0.502078|.	0.17256|.	U|.	0.180952|.	.|T	.|0.25827	.|0.0629	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.17806	.|-1.0357	.|4	0.09084|.	T|.	0.74|.	.|.	5.2323|5.2323	0.15428|0.15428	0.3149:0.3745:0.3106:0.0|0.3149:0.3745:0.3106:0.0	.|.	.|.	.|.	.|.	X|H	1101|1111	.|.	ENSP00000291440:E1101X|.	E|Q	-|-	1|3	0|2	CPAMD8|CPAMD8	16900029|16900029	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.120000|0.120000	0.20174|0.20174	1.390000|1.390000	0.34464|0.34464	1.300000|1.300000	0.44818|0.44818	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		4	153	1	0	0.150653	0.150653	0.159117	4	153				
MAST2	23139	broad.mit.edu	37	1	46295226	46295226	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:46295226G>T	ENST00000361297.2	+	3	724	c.441G>T	c.(439-441)caG>caT	p.Q147H	MAST2_ENST00000372009.2_Missense_Mutation_p.Q147H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCTTGGACAGTCTGCACCTT	0.448																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(439-441)caG>caT		microtubule associated serine/threonine kinase 2							107.0	101.0	103.0					1																	46295226		1936	4148	6084	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46295226G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.441G>T	1.37:g.46295226G>T	ENSP00000354671:p.Gln147His					MAST2_ENST00000372009.2_Missense_Mutation_p.Q147H	p.Q147H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			3	724	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		147						Missense_Mutation	SNP	ENST00000361297.2	37	c.441G>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428447	0.62844	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.66460	-0.17;-0.21	5.03	0.823	0.18812	.	0.339338	0.22613	N	0.057818	T	0.71324	0.3326	L	0.39147	1.195	0.30964	N	0.723312	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	T	0.70773	-0.4781	10	0.42905	T	0.14	-3.6986	11.8412	0.52355	0.2827:0.0:0.7173:0.0	.	147;147	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	147	ENSP00000354671:Q147H;ENSP00000361079:Q147H	ENSP00000354671:Q147H	Q	+	3	2	MAST2	46067813	0.998000	0.40836	0.997000	0.53966	0.944000	0.59088	0.390000	0.20768	-0.078000	0.12730	-0.813000	0.03139	CAG		0.448	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		3	146	1	0	0.00909568	0.150653	0.00982752	3	146				
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(313-315)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						129.0	113.0	119.0					4																	96761615		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761615G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp						p.G105D	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	377	+		Hepatocellular(203;0.114)	105					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.314G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			5	228	0	0	0	0.014758	0	5	228				
DNAH11	8701	broad.mit.edu	37	7	21678576	21678576	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:21678576G>T	ENST00000409508.3	+	28	4868	c.4837G>T	c.(4837-4839)Gct>Tct	p.A1613S	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1618S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1618	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGAAAAAGCTCTCGCTGA	0.403									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4852-4854)Gct>Tct		dynein, axonemal, heavy chain 11							160.0	158.0	158.0					7																	21678576		1854	4087	5941	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21678576G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4837G>T	7.37:g.21678576G>T	ENSP00000475939:p.Ala1613Ser					DNAH11_ENST00000409508.3_Missense_Mutation_p.A1613S	p.A1618S			Q96DT5	DYH11_HUMAN			28	4883	+			1618			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4852G>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.307505	0.81247	.	.	ENSG00000105877	ENST00000328843	T	0.60171	0.21	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	0.054257	0.64402	D	0.000001	T	0.38532	0.1044	.	.	.	0.80722	D	1	P	0.36086	0.536	B	0.34489	0.184	T	0.38200	-0.9672	9	0.02654	T	1	.	18.7707	0.91890	0.0:0.0:1.0:0.0	.	1618	Q96DT5	DYH11_HUMAN	S	1618	ENSP00000330671:A1618S	ENSP00000330671:A1618S	A	+	1	0	DNAH11	21645101	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.103000	0.64578	2.729000	0.93468	0.650000	0.86243	GCT		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		67	157	1	0	9.12251e-31	0.139131	1.11366e-30	67	157				
PEG10	23089	broad.mit.edu	37	7	94293346	94293346	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94293346G>A	ENST00000482108.1	+	2	957	c.478G>A	c.(478-480)Gac>Aac	p.D160N	PEG10_ENST00000488574.1_Missense_Mutation_p.D160N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	160	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTCTTTGAAGACCCTCAGAG	0.557																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(478-480)Gac>Aac		paternally expressed 10							134.0	140.0	138.0					7																	94293346		2011	4171	6182	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293346G>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.478G>A	7.37:g.94293346G>A	ENSP00000417587:p.Asp160Asn					PEG10_ENST00000488574.1_Missense_Mutation_p.D160N	p.D160N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	957	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		160			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.478G>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428427	0.62844	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14516	2.5;2.5	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.19485	0.0468	N	0.24115	0.695	0.22968	N	0.998495	D;D	0.71674	0.998;0.998	D;D	0.65773	0.938;0.938	T	0.13791	-1.0496	9	0.18276	T	0.48	.	11.9358	0.52872	0.0:0.0:1.0:0.0	.	236;160	B4DSP0;Q86TG7	.;PEG10_HUMAN	N	160	ENSP00000417587:D160N;ENSP00000418944:D160N	ENSP00000417587:D160N	D	+	1	0	PEG10	94131282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.491000	0.45303	2.276000	0.75962	0.555000	0.69702	GAC		0.557	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		12	353	0	0	0	0.105934	0	12	353				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	40	0	0	0	0.115264	0	3	40				
LRP1B	53353	broad.mit.edu	37	2	141528521	141528521	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:141528521G>T	ENST00000389484.3	-	34	6526	c.5555C>A	c.(5554-5556)aCa>aAa	p.T1852K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1852	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTCAGATGTTGGTAAACA	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5554-5556)aCa>aAa		low density lipoprotein receptor-related protein 1B							150.0	140.0	144.0					2																	141528521		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141528521G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5555C>A	2.37:g.141528521G>T	ENSP00000374135:p.Thr1852Lys	TSP Lung(27;0.18)					p.T1852K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	34	6526	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1852			EGF-like 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5555C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463666	0.84425	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96856	-4.15	5.71	5.71	0.89125	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.64170	1.965	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.95498	0.8575	10	0.11182	T	0.66	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	1852	Q9NZR2	LRP1B_HUMAN	K	1852;1790	ENSP00000374135:T1852K	ENSP00000374135:T1852K	T	-	2	0	LRP1B	141244991	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.215000	0.95146	2.683000	0.91414	0.591000	0.81541	ACA		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	215	1	0	0.00010058	0.093190	0.000112554	13	215				
SLCO1B7	338821	broad.mit.edu	37	12	21205042	21205042	+	Silent	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:21205042A>C	ENST00000421593.2	+	9	1203	c.1203A>C	c.(1201-1203)gtA>gtC	p.V401V	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Silent_p.V448V|SLCO1B3_ENST00000553473.1_Intron|RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B7_ENST00000554957.1_Silent_p.V448V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	401						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATAGTCCAGTAAGATCTCATG	0.388																																						ENST00000381541.3																			0											c.(1342-1344)gtA>gtC									90.0	89.0	90.0					12																	21205042		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr12:21205042A>C	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1203A>C	12.37:g.21205042A>C						SLCO1B7_ENST00000421593.2_Silent_p.V401V|SLCO1B7_ENST00000554957.1_Silent_p.V448V|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron	p.V448V							10	1409	+								Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1344A>C	CCDS44843.1																																																																																				0.388	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		24	123	0	0	0	0.076483	0	24	123				
EPRS	2058	broad.mit.edu	37	1	220195728	220195728	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:220195728C>T	ENST00000366923.3	-	9	1345	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	359	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(1075-1077)tGc>tAc		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						268.0	254.0	259.0					1																	220195728		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220195728C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1076G>A	1.37:g.220195728C>T	ENSP00000355890:p.Cys359Tyr						p.C359Y	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	9	1345	-			359			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1076G>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877547	0.91664	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23348	1.91	5.88	5.88	0.94601	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.080669	0.85682	D	0.000000	T	0.60314	0.2259	M	0.87456	2.885	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.834;1.0	D;D;P;D	0.97110	0.99;0.995;0.642;1.0	T	0.64884	-0.6302	10	0.87932	D	0	-7.7173	20.2405	0.98372	0.0:1.0:0.0:0.0	.	383;359;359;359	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	Y	359;359;383	ENSP00000355890:C359Y	ENSP00000355890:C359Y	C	-	2	0	EPRS	218262351	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.280000	0.78610	2.797000	0.96272	0.561000	0.74099	TGC		0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		7	406	0	0	0	0.029380	0	7	406				
MYH8	4626	broad.mit.edu	37	17	10309482	10309482	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:10309482C>G	ENST00000403437.2	-	21	2402	c.2308G>C	c.(2308-2310)Gct>Cct	p.A770P	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	770	Actin-binding.|Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGTCCAGCTTTGAAGAAA	0.403									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2308-2310)Gct>Cct		myosin, heavy chain 8, skeletal muscle, perinatal							95.0	91.0	92.0					17																	10309482		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10309482C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2308G>C	17.37:g.10309482C>G	ENSP00000384330:p.Ala770Pro					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A770P	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			21	2402	-			770			Actin-binding.|Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2308G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782079	0.90282	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.74002	-0.8	5.22	5.22	0.72569	Myosin head, motor domain (1);	0.000000	0.41396	U	0.000883	D	0.87621	0.6223	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88958	0.3391	10	0.87932	D	0	.	18.9728	0.92722	0.0:1.0:0.0:0.0	.	770	P13535	MYH8_HUMAN	P	770	ENSP00000384330:A770P	ENSP00000252173:A770P	A	-	1	0	MYH8	10250207	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.609000	0.82925	2.732000	0.93576	0.650000	0.86243	GCT		0.403	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		48	77	0	0	0	0.139131	0	48	77				
COL27A1	85301	broad.mit.edu	37	9	116931516	116931516	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116931516A>G	ENST00000356083.3	+	3	2072	c.1681A>G	c.(1681-1683)Aag>Gag	p.K561E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	561	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGACCTGGGAAGGCAGCCAG	0.642																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1681-1683)Aag>Gag		collagen, type XXVII, alpha 1							69.0	88.0	82.0					9																	116931516		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931516A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1681A>G	9.37:g.116931516A>G	ENSP00000348385:p.Lys561Glu						p.K561E	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	2072	+			561			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1681A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964209	0.34659	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91577	-2.58;-2.87	5.41	3.1	0.35709	.	.	.	.	.	D	0.82917	0.5141	L	0.36672	1.1	0.22601	N	0.998948	B;B	0.17852	0.001;0.024	B;B	0.18263	0.002;0.021	T	0.66217	-0.5979	9	0.14656	T	0.56	.	6.2053	0.20600	0.8058:0.0:0.1942:0.0	.	561;508	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	E	561;561;508;508	ENSP00000348385:K561E;ENSP00000391328:K508E	ENSP00000348385:K561E	K	+	1	0	COL27A1	115971337	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.994000	0.49433	0.898000	0.36418	0.460000	0.39030	AAG		0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		9	242	0	0	0	0.047766	0	9	242				
TET2	54790	broad.mit.edu	37	4	106156834	106156834	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:106156834C>G	ENST00000540549.1	+	3	2595	c.1735C>G	c.(1735-1737)Cta>Gta	p.L579V	TET2_ENST00000380013.4_Missense_Mutation_p.L579V|TET2_ENST00000305737.2_Missense_Mutation_p.L579V|TET2_ENST00000513237.1_Missense_Mutation_p.L600V|TET2_ENST00000545826.1_Missense_Mutation_p.L579V|TET2_ENST00000394764.1_Missense_Mutation_p.L579V|TET2_ENST00000413648.2_Missense_Mutation_p.L579V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	579					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAATCCCATCTAAAACGTAA	0.453			"""Mis N, F"""		MDS																																	ENST00000540549.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1735-1737)Cta>Gta		tet methylcytosine dioxygenase 2							76.0	80.0	79.0					4																	106156834		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156834C>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1735C>G	4.37:g.106156834C>G	ENSP00000442788:p.Leu579Val					TET2_ENST00000305737.2_Missense_Mutation_p.L579V|TET2_ENST00000394764.1_Missense_Mutation_p.L579V|TET2_ENST00000380013.4_Missense_Mutation_p.L579V|TET2_ENST00000545826.1_Missense_Mutation_p.L579V|TET2_ENST00000513237.1_Missense_Mutation_p.L600V|TET2_ENST00000413648.2_Missense_Mutation_p.L579V	p.L579V			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2595	+		Myeloproliferative disorder(5;0.0393)	579					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1735C>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.723127	0.00700	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.59	2.79	0.32731	.	10.162400	0.00166	N	0.000000	T	0.12774	0.0310	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.21793	-1.0235	10	0.27082	T	0.32	.	5.9724	0.19359	0.1428:0.6545:0.1298:0.0729	.	600;579;579	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	V	579;579;579;600;579;579;579;579	ENSP00000306705:L579V;ENSP00000442788:L579V;ENSP00000442867:L579V;ENSP00000425443:L600V;ENSP00000369351:L579V;ENSP00000378245:L579V;ENSP00000391448:L579V	ENSP00000265149:L579V	L	+	1	2	TET2	106376283	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.664000	0.25068	0.657000	0.30906	-0.182000	0.12963	CTA		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		5	152	0	0	0	0.014758	0	5	152				
TRPM6	140803	broad.mit.edu	37	9	77435280	77435280	+	Silent	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:77435280A>G	ENST00000360774.1	-	9	1311	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	TRPM6_ENST00000451710.3_Silent_p.S358S|TRPM6_ENST00000376871.3_Silent_p.S358S|TRPM6_ENST00000376864.4_Silent_p.S358S|TRPM6_ENST00000376872.3_Silent_p.S358S|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.S353S|TRPM6_ENST00000449912.2_Silent_p.S353S	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	358					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTGTTTAAGACTAAAGTTGA	0.413																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1072-1074)agT>agC		transient receptor potential cation channel, subfamily M, member 6							146.0	133.0	138.0					9																	77435280		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77435280A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1074T>C	9.37:g.77435280A>G						TRPM6_ENST00000449912.2_Silent_p.S353S|TRPM6_ENST00000376871.3_Silent_p.S358S|TRPM6_ENST00000360774.1_Silent_p.S358S|TRPM6_ENST00000376872.3_Silent_p.S358S|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.S353S|TRPM6_ENST00000376864.4_Silent_p.S358S	p.S358S			Q9BX84	TRPM6_HUMAN			9	1311	-			358					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.1074T>C	CCDS6647.1																																																																																				0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		35	108	0	0	0	0.104719	0	35	108				
NEB	4703	broad.mit.edu	37	2	152342397	152342397	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:152342397C>T	ENST00000172853.10	-	149	20034	c.19887G>A	c.(19885-19887)gtG>gtA	p.V6629V	NEB_ENST00000409198.1_Silent_p.V6629V|NEB_ENST00000397336.2_Silent_p.V460V|NEB_ENST00000427231.2_Silent_p.V8485V|NEB_ENST00000397345.3_Silent_p.V8485V|NEB_ENST00000509223.2_Silent_p.V398V|NEB_ENST00000604864.1_Silent_p.V8485V|NEB_ENST00000603639.1_Silent_p.V8485V			P20929	NEBU_HUMAN	nebulin	6629	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGAAGGACACCTCATCTG	0.458																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(25453-25455)gtG>gtA		nebulin							130.0	128.0	129.0					2																	152342397		2020	4201	6221	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152342397C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19887G>A	2.37:g.152342397C>T						NEB_ENST00000172853.10_Silent_p.V6629V|NEB_ENST00000603639.1_Silent_p.V8485V|NEB_ENST00000409198.1_Silent_p.V6629V|NEB_ENST00000427231.2_Silent_p.V8485V|NEB_ENST00000509223.2_Silent_p.V398V|NEB_ENST00000397336.2_Silent_p.V460V|NEB_ENST00000604864.1_Silent_p.V8485V	p.V8485V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	182	25657	-			6629					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.25455G>A		.	.	.	.	.	.	.	.	.	.	C	7.294	0.611745	0.14066	.	.	ENSG00000183091	ENST00000397337;ENST00000434685	.	.	.	5.36	3.57	0.40892	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35919	-0.9769	4	.	.	.	.	3.9034	0.09172	0.1316:0.5908:0.1279:0.1498	.	.	.	.	Y	619;726	.	.	C	-	2	0	NEB	152050643	0.998000	0.40836	1.000000	0.80357	0.794000	0.44872	0.676000	0.25247	0.654000	0.30846	0.462000	0.41574	TGT		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		67	130	0	0	0	0.139131	0	67	130				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R	p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		74	12	0	0	0	0.139131	0	74	12				
ZNF713	349075	broad.mit.edu	37	7	56006946	56006946	+	Silent	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:56006946A>C	ENST00000429591.2	+	4	578	c.540A>C	c.(538-540)tcA>tcC	p.S180S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGAACTCAAACCTTATGC	0.368																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(538-540)tcA>tcC		zinc finger protein 713							54.0	56.0	55.0					7																	56006946		2203	4300	6503	SO:0001819	synonymous_variant	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56006946A>C	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.540A>C	7.37:g.56006946A>C						MRPS17_ENST00000426595.1_Intron	p.S180S	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	578	+	Breast(14;0.214)		180						Silent	SNP	ENST00000429591.2	37	c.540A>C	CCDS34639.1																																																																																				0.368	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		32	136	0	0	0	0.173368	0	32	136				
RHAG	6005	broad.mit.edu	37	6	49604490	49604490	+	Silent	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:49604490C>A	ENST00000371175.4	-	1	62	c.36G>T	c.(34-36)ctG>ctT	p.L12L	RHAG_ENST00000229810.7_Silent_p.L12L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	12					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGGCAATTTCCAGGACTATAG	0.443																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(34-36)ctG>ctT		Rh-associated glycoprotein							119.0	111.0	114.0					6																	49604490		2203	4300	6503	SO:0001819	synonymous_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49604490C>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.36G>T	6.37:g.49604490C>A						RHAG_ENST00000229810.7_Silent_p.L12L	p.L12L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			1	62	-	Lung NSC(77;0.0255)		12					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	c.36G>T	CCDS4927.1																																																																																				0.443	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			61	140	1	0	2.5401e-28	0.139131	3.06114e-28	61	140				
REV3L	5980	broad.mit.edu	37	6	111726682	111726682	+	Silent	SNP	T	T	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:111726682T>G	ENST00000358835.3	-	5	1010	c.556A>C	c.(556-558)Aga>Cga	p.R186R	REV3L_ENST00000368805.1_Silent_p.R186R|REV3L_ENST00000435970.1_Silent_p.R108R|REV3L_ENST00000368802.3_Silent_p.R186R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	186					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTTCCTTCTTGCTTTTCGG	0.299								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(322-324)Aga>Cga	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							83.0	85.0	84.0					6																	111726682		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111726682T>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.556A>C	6.37:g.111726682T>G						REV3L_ENST00000368802.3_Silent_p.R186R|REV3L_ENST00000368805.1_Silent_p.R186R|REV3L_ENST00000358835.3_Silent_p.R186R	p.R108R			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	6	1138	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	186					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.322A>C	CCDS5091.2																																																																																				0.299	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		7	203	0	0	0	0.029380	0	7	203				
RSPH14	27156	broad.mit.edu	37	22	23401832	23401832	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr22:23401832C>T	ENST00000216036.4	-	7	1051	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		285										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCGCTATGGTCATGGGGGAGT	0.657																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(853-855)atG>atA		rhabdoid tumor deletion region gene 1							83.0	79.0	80.0					22																	23401832		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401832C>T																												ENST00000216036.4:c.855G>A	22.37:g.23401832C>T	ENSP00000216036:p.Met285Ile						p.M285I	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1051	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		285						Missense_Mutation	SNP	ENST00000216036.4	37	c.855G>A	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	9.259	1.042795	0.19748	.	.	ENSG00000100218	ENST00000216036	T	0.47177	0.85	5.31	0.405	0.16361	Armadillo-like helical (1);Armadillo-type fold (1);	0.711109	0.14184	N	0.335828	T	0.27241	0.0668	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.14783	-1.0460	10	0.49607	T	0.09	-1.4587	3.2922	0.06953	0.1706:0.4061:0.3306:0.0927	.	285	Q9UHP6	RTDR1_HUMAN	I	285	ENSP00000216036:M285I	ENSP00000216036:M285I	M	-	3	0	RTDR1	21731832	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.402000	0.20965	0.675000	0.31264	0.655000	0.94253	ATG		0.657	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			59	190	0	0	0	0.139131	0	59	190				
ZNF618	114991	broad.mit.edu	37	9	116811471	116811471	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116811471G>A	ENST00000374126.5	+	15	1988	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.G537D			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TCCAAGGCCGGCATGTGCCTT	0.622																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1609-1611)gGc>gAc		zinc finger protein 618							87.0	87.0	87.0					9																	116811471		2188	4275	6463	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811471G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1889G>A	9.37:g.116811471G>A	ENSP00000363241:p.Gly630Asp					ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G630D	p.G537D	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1709	+			630					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1610G>A		.	.	.	.	.	.	.	.	.	.	G	15.54	2.864478	0.51482	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.02177	4.41	5.14	5.14	0.70334	Ribonuclease H-like (1);	0.115220	0.64402	D	0.000011	T	0.11452	0.0279	.	.	.	0.80722	D	1	D;P;P	0.89917	1.0;0.615;0.778	D;B;B	0.83275	0.996;0.158;0.374	T	0.06807	-1.0806	9	0.32370	T	0.25	-27.2817	17.9534	0.89061	0.0:0.0:1.0:0.0	.	597;630;537	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	D	630;537	ENSP00000288466:G537D	ENSP00000288466:G537D	G	+	2	0	ZNF618	115851292	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	4.993000	0.63895	2.550000	0.86006	0.462000	0.41574	GGC		0.622	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		4	223	0	0	0	0.014758	0	4	223				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	404	1	0	3.07112e-06	0.080935	3.47813e-06	6	404				
BCLAF1	9774	broad.mit.edu	37	6	136597607	136597607	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:136597607C>A	ENST00000531224.1	-	5	1308	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R352S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R350S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R350S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R350S|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	352					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTATTACCCCTATCAAGCA	0.443																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1054-1056)agG>agT		BCL2-associated transcription factor 1							125.0	134.0	131.0					6																	136597607		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597607C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1056G>T	6.37:g.136597607C>A	ENSP00000435210:p.Arg352Ser					BCLAF1_ENST00000353331.4_Missense_Mutation_p.R350S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R352S|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R350S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R350S	p.R352S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1308	-	Colorectal(23;0.24)		352					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1056G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415489	0.42817	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.04588	0.0125	N	0.08118	0	0.80722	D	1	P;P;P	0.46512	0.782;0.879;0.782	B;B;B	0.42030	0.242;0.373;0.242	T	0.21075	-1.0256	10	0.48119	T	0.1	-8.7161	10.0727	0.42343	0.0:0.8504:0.0:0.1496	.	350;350;352	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	S	352;350;352;350;350;352	ENSP00000435210:R352S;ENSP00000229446:R350S;ENSP00000435441:R352S;ENSP00000434826:R350S;ENSP00000376159:R350S;ENSP00000431734:R352S	ENSP00000229446:R350S	R	-	3	2	BCLAF1	136639300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.361000	0.52306	2.695000	0.91970	0.650000	0.86243	AGG		0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	523	1	0	0.000673444	0.069234	0.00073609	9	523				
C1orf168	199920	broad.mit.edu	37	1	57258301	57258301	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:57258301C>T	ENST00000343433.6	-	2	265	c.185G>A	c.(184-186)cGc>cAc	p.R62H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	62										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTATGGTGTGCGCTGCTTGTG	0.473																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(184-186)cGc>cAc		chromosome 1 open reading frame 168							148.0	141.0	143.0					1																	57258301		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57258301C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.185G>A	1.37:g.57258301C>T	ENSP00000345972:p.Arg62His					C1orf168_ENST00000484327.1_5'UTR	p.R62H	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			2	265	-			62					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.185G>A	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	5.451	0.268340	0.10349	.	.	ENSG00000187889	ENST00000343433	T	0.31769	1.48	4.39	-7.27	0.01461	.	1.264140	0.05447	N	0.548664	T	0.09730	0.0239	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16600	-1.0397	10	0.40728	T	0.16	5.9064	0.0969	0.00045	0.3085:0.2118:0.1603:0.3195	.	62;62	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	H	62	ENSP00000345972:R62H	ENSP00000345972:R62H	R	-	2	0	C1orf168	57030889	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.230000	0.02942	-1.640000	0.01525	-2.444000	0.00210	CGC		0.473	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		15	322	0	0	0	0.132662	0	15	322				
ADAMTS20	80070	broad.mit.edu	37	12	43925953	43925953	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:43925953T>C	ENST00000389420.3	-	3	498	c.499A>G	c.(499-501)Ata>Gta	p.I167V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I167V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	167					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCTTCATTATAGGTTCTAAG	0.343																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(499-501)Ata>Gta		ADAM metallopeptidase with thrombospondin type 1 motif, 20							145.0	145.0	145.0					12																	43925953		2202	4300	6502	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43925953T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.499A>G	12.37:g.43925953T>C	ENSP00000374071:p.Ile167Val					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I167V	p.I167V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	3	498	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	167					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.499A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	6.342	0.431243	0.12045	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05447	3.44;3.44	4.84	-2.28	0.06826	Peptidase M12B, propeptide (1);	0.832628	0.10117	N	0.713910	T	0.02119	0.0066	N	0.04203	-0.255	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.48969	-0.8987	10	0.20046	T	0.44	.	0.3053	0.00279	0.3376:0.1773:0.2667:0.2183	.	167	P59510	ATS20_HUMAN	V	167	ENSP00000374071:I167V;ENSP00000448341:I167V	ENSP00000374068:I167V	I	-	1	0	ADAMTS20	42212220	0.594000	0.26849	0.565000	0.28409	0.485000	0.33311	-0.564000	0.05936	-0.153000	0.11137	-0.336000	0.08194	ATA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		12	147	0	0	0	0.093190	0	12	147				
SPTAN1	6709	broad.mit.edu	37	9	131337005	131337005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:131337005C>T	ENST00000372731.4	+	4	525	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R139*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.R139*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	139					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGAAGATGCGAGAAAAAGG	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(415-417)Cga>Tga		spectrin, alpha, non-erythrocytic 1							129.0	129.0	129.0					9																	131337005		2203	4300	6503	SO:0001587	stop_gained	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131337005C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.415C>T	9.37:g.131337005C>T	ENSP00000361816:p.Arg139*					SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R139*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.R139*	p.R139*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			4	525	+			139					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	c.415C>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	37	6.227077	0.97394	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	6.17	5.26	0.73747	.	0.160698	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	14.2029	0.65716	0.2858:0.7141:0.0:0.0	.	.	.	.	X	139	.	ENSP00000350882:R139X	R	+	1	2	SPTAN1	130376826	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.859000	0.39418	1.584000	0.49913	0.655000	0.94253	CGA		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		47	80	0	0	0	0.139131	0	47	80				
SIRPD	128646	broad.mit.edu	37	20	1517834	1517834	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:1517834G>T	ENST00000381623.3	-	3	1733	c.544C>A	c.(544-546)Ccc>Acc	p.P182T	SIRPD_ENST00000381621.1_Missense_Mutation_p.P183T			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	182						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGCAGCAGGGTTGGACGAAA	0.607																																						ENST00000381623.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(544-546)Ccc>Acc		signal-regulatory protein delta							139.0	122.0	128.0					20																	1517834		2203	4300	6503	SO:0001583	missense	128646					extracellular region		g.chr20:1517834G>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.544C>A	20.37:g.1517834G>T	ENSP00000371036:p.Pro182Thr					SIRPD_ENST00000381621.1_Missense_Mutation_p.P183T	p.P182T			Q9H106	SIRPD_HUMAN			3	1733	-			182					B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	c.544C>A	CCDS13018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.329386|1.329386	0.24167|0.24167	.|.	.|.	ENSG00000125900|ENSG00000125900	ENST00000429387|ENST00000381623;ENST00000381621	.|T;T	.|0.03386	.|3.95;3.99	2.59|2.59	2.59|2.59	0.31030|0.31030	.|.	.|2.223100	.|0.03451	.|U	.|0.210601	T|T	0.06416|0.06416	0.0165|0.0165	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.60682	.|0.878	T|T	0.49606|0.49606	-0.8922|-0.8922	5|10	.|0.39692	.|T	.|0.17	.|.	8.8499|8.8499	0.35192|0.35192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182	.|Q9H106	.|SIRPD_HUMAN	K|T	64|182;183	.|ENSP00000371036:P182T;ENSP00000371034:P183T	.|ENSP00000371034:P183T	N|P	-|-	3|1	2|0	SIRPD|SIRPD	1465834|1465834	0.002000|0.002000	0.14202|0.14202	0.162000|0.162000	0.22713|0.22713	0.138000|0.138000	0.21146|0.21146	-0.061000|-0.061000	0.11693|0.11693	1.742000|1.742000	0.51746|0.51746	0.563000|0.563000	0.77884|0.77884	AAC|CCC		0.607	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		43	139	1	0	3.77016e-25	0.131918	4.48601e-25	43	139				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			41	66	0	0	0	0.086207	0	41	66				
TRIM46	80128	broad.mit.edu	37	1	155160204	155160204	+	IGR	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:155160204C>T	ENST00000334634.4	+	0	3061				MUC1_ENST00000368390.3_Missense_Mutation_p.V139I|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Missense_Mutation_p.V148I|MUC1_ENST00000368389.2_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000438413.1_Missense_Mutation_p.V113I|MUC1_ENST00000457295.2_Missense_Mutation_p.V148I|MUC1_ENST00000368395.1_Missense_Mutation_p.V359I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Missense_Mutation_p.V114I|MUC1_ENST00000338684.5_Missense_Mutation_p.V108I|MUC1_ENST00000337604.5_Missense_Mutation_p.V157I|MUC1_ENST00000368393.3_Missense_Mutation_p.V157I|MUC1_ENST00000343256.5_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577																																						ENST00000368395.1										T					IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(1075-1077)Gtc>Atc		mucin 1, cell surface associated							48.0	45.0	46.0					1																	155160204		2199	4298	6497	SO:0001628	intergenic_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155160204C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155160204C>T						MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000457295.2_Missense_Mutation_p.V148I|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.V113I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Missense_Mutation_p.V108I|MUC1_ENST00000337604.5_Missense_Mutation_p.V157I|MUC1_ENST00000368398.3_Missense_Mutation_p.V114I|MUC1_ENST00000368392.3_Missense_Mutation_p.V148I|MUC1_ENST00000368390.3_Missense_Mutation_p.V139I|MUC1_ENST00000368393.3_Missense_Mutation_p.V157I|MUC1_ENST00000342482.4_Intron	p.V359I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	1146	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		1139			42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1075G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192210	0.38707	.	.	ENSG00000185499	ENST00000368395;ENST00000338684;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368398;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T;T;T	0.48522	1.56;1.56;1.56;1.56;1.56;0.81;1.56;1.56;1.56	3.82	-6.77	0.01727	.	1.649920	0.03959	N	0.289795	T	0.25269	0.0614	N	0.21373	0.66	0.09310	N	1	P;D;B;B;P;B;B;B;B;B;P;B;B;B;B;B;B;D;B;B;B;B;B;B	0.56746	0.919;0.977;0.001;0.062;0.865;0.011;0.006;0.008;0.003;0.045;0.929;0.08;0.099;0.046;0.025;0.025;0.0;0.971;0.226;0.077;0.001;0.226;0.024;0.029	B;P;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;P;B;B;B;B;B;B	0.58391	0.184;0.622;0.001;0.021;0.129;0.041;0.003;0.01;0.013;0.024;0.777;0.047;0.041;0.036;0.031;0.024;0.001;0.838;0.03;0.036;0.001;0.03;0.034;0.017	T	0.34750	-0.9816	10	0.44086	T	0.13	-6.4374	7.2493	0.26140	0.0:0.3121:0.1233:0.5645	.	1148;139;1136;157;1127;166;108;445;445;359;166;123;125;122;127;101;148;157;114;157;148;114;113;139	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;A5YRV1;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID7;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;P15941-6;B1AVR0;Q0VAP5;A6ZIE0;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	359;108;148;113;148;157;445;114;139;157	ENSP00000357380:V359I;ENSP00000343482:V108I;ENSP00000357377:V148I;ENSP00000389098:V113I;ENSP00000388172:V148I;ENSP00000357378:V157I;ENSP00000357383:V114I;ENSP00000357375:V139I;ENSP00000338983:V157I	ENSP00000338983:V157I	V	-	1	0	MUC1	153426828	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.384000	0.01063	-1.611000	0.01581	-1.332000	0.01269	GTC		0.577	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		6	58	0	0	0	0.038147	0	6	58				
SBF2	81846	broad.mit.edu	37	11	9864268	9864268	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:9864268T>C	ENST00000256190.8	-	25	3297	c.3160A>G	c.(3160-3162)Aca>Gca	p.T1054A	RP11-1H15.2_ENST00000533659.1_RNA|RNU7-28P_ENST00000516759.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1054					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGCCCAATTGTCATTTTCCCT	0.373																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3160-3162)Aca>Gca		SET binding factor 2							157.0	131.0	140.0					11																	9864268		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9864268T>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3160A>G	11.37:g.9864268T>C	ENSP00000256190:p.Thr1054Ala					RP11-1H15.2_ENST00000533659.1_RNA	p.T1054A	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	25	3297	-			1054					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3160A>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668778	0.67814	.	.	ENSG00000133812	ENST00000256190	D	0.85773	-2.03	5.48	5.48	0.80851	.	0.161256	0.56097	D	0.000035	D	0.83972	0.5370	L	0.59436	1.845	0.80722	D	1	B	0.13594	0.008	B	0.21546	0.035	T	0.81342	-0.0976	10	0.66056	D	0.02	.	15.5644	0.76277	0.0:0.0:0.0:1.0	.	1054	Q86WG5	MTMRD_HUMAN	A	1054	ENSP00000256190:T1054A	ENSP00000256190:T1054A	T	-	1	0	SBF2	9820844	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.738000	0.84966	2.084000	0.62774	0.477000	0.44152	ACA		0.373	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		4	111	0	0	0	0.014758	0	4	111				
KIAA1614	57710	broad.mit.edu	37	1	180904728	180904728	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:180904728G>A	ENST00000367588.4	+	5	1738	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	KIAA1614_ENST00000367587.1_Silent_p.Q182Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	561										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCCTCCAGGAGCTCCAGG	0.726																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1681-1683)caG>caA		KIAA1614							9.0	11.0	10.0					1																	180904728		1817	3992	5809	SO:0001819	synonymous_variant	57710							g.chr1:180904728G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1683G>A	1.37:g.180904728G>A						KIAA1614_ENST00000367587.1_Silent_p.Q182Q	p.Q561Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1738	+			561					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.1683G>A	CCDS41442.1																																																																																				0.726	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		3	32	0	0	0	0.115264	0	3	32				
ALPK1	80216	broad.mit.edu	37	4	113362097	113362097	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:113362097G>A	ENST00000458497.1	+	15	3842	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G1110E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1188E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1188	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATGGAAAAGGACTCATCTAC	0.363																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3562-3564)gGa>gAa		alpha-kinase 1							101.0	104.0	103.0					4																	113362097		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113362097G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3563G>A	4.37:g.113362097G>A	ENSP00000398048:p.Gly1188Glu					ALPK1_ENST00000504176.2_Missense_Mutation_p.G1110E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1188E	p.G1188E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	15	3842	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1188			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3563G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425248	0.96131	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02916	4.18;4.18;4.11	5.84	5.84	0.93424	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.055536	0.64402	D	0.000001	T	0.17066	0.0410	M	0.73598	2.24	0.58432	D	0.999998	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77004	0.974;0.989;0.985	T	0.00012	-1.2430	10	0.87932	D	0	-15.6732	20.1379	0.98040	0.0:0.0:1.0:0.0	.	1110;1110;1188	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	1188;1188;1110	ENSP00000398048:G1188E;ENSP00000177648:G1188E;ENSP00000426044:G1110E	ENSP00000177648:G1188E	G	+	2	0	ALPK1	113581546	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.882000	0.75589	2.779000	0.95612	0.655000	0.94253	GGA		0.363	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		5	269	0	0	0	0.014758	0	5	269				
CACNA2D1	781	broad.mit.edu	37	7	81624211	81624211	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:81624211G>A	ENST00000356253.5	-	21	2019	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	CACNA2D1_ENST00000356860.3_Silent_p.F569F			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	588					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCAGAGTTCTGAATGTTTTTT	0.299																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1705-1707)ttC>ttT		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						80.0	79.0	79.0					7																	81624211		2201	4292	6493	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81624211G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1764C>T	7.37:g.81624211G>A						CACNA2D1_ENST00000356253.5_Silent_p.F588F	p.F569F	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			20	2045	-			588					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.1707C>T		.	.	.	.	.	.	.	.	.	.	G	9.163	1.019182	0.19355	.	.	ENSG00000153956	ENST00000443883	.	.	.	5.43	2.24	0.28232	.	.	.	.	.	T	0.54647	0.1871	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47100	-0.9143	4	.	.	.	-13.2539	6.7006	0.23223	0.4361:0.0:0.5639:0.0	.	.	.	.	L	87	.	.	S	-	2	0	CACNA2D1	81462147	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.844000	0.27654	0.665000	0.31066	0.655000	0.94253	TCA		0.299	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				6	112	0	0	0	0.021553	0	6	112				
GAS2	2620	broad.mit.edu	37	11	22747932	22747932	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:22747932G>A	ENST00000454584.2	+	4	667	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	GAS2_ENST00000278187.3_Missense_Mutation_p.R121Q|GAS2_ENST00000433790.1_Missense_Mutation_p.R121Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	121	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCCTGGTGCCGAGATTTAGGG	0.398																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(361-363)cGa>cAa		growth arrest-specific 2							157.0	160.0	159.0					11																	22747932		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22747932G>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.362G>A	11.37:g.22747932G>A	ENSP00000401145:p.Arg121Gln					GAS2_ENST00000278187.3_Missense_Mutation_p.R121Q|GAS2_ENST00000433790.1_Missense_Mutation_p.R121Q	p.R121Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			4	667	+			121			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.362G>A	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678019	0.88445	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.74	5.74	0.90152	Calponin homology domain (5);	0.057879	0.64402	D	0.000003	D	0.97324	0.9125	M	0.77712	2.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.97295	0.9927	10	0.62326	D	0.03	-8.6225	19.9329	0.97127	0.0:0.0:1.0:0.0	.	121	O43903	GAS2_HUMAN	Q	121	ENSP00000432584:R121Q;ENSP00000401145:R121Q;ENSP00000434478:R121Q;ENSP00000278187:R121Q;ENSP00000433182:R121Q;ENSP00000435946:R121Q;ENSP00000396708:R121Q	ENSP00000278187:R121Q	R	+	2	0	GAS2	22704508	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	CGA		0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		15	138	0	0	0	0.119110	0	15	138				
TRIM56	81844	broad.mit.edu	37	7	100732260	100732260	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:100732260C>T	ENST00000306085.6	+	3	1964	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	556					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAGCGTGGCCGCCCTGCAG	0.672																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1666-1668)gCc>gTc		tripartite motif containing 56							48.0	54.0	52.0					7																	100732260		2120	4223	6343	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732260C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1667C>T	7.37:g.100732260C>T	ENSP00000305161:p.Ala556Val						p.A556V	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	1964	+	Lung NSC(181;0.136)|all_lung(186;0.182)		556					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1667C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345388	0.41498	.	.	ENSG00000169871	ENST00000306085	T	0.35973	1.28	3.76	3.76	0.43208	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.41050	0.1142	N	0.19112	0.55	0.35749	D	0.819276	D	0.61697	0.99	D	0.67231	0.95	T	0.50056	-0.8872	9	0.52906	T	0.07	.	11.3763	0.49730	0.0:1.0:0.0:0.0	.	556	Q9BRZ2	TRI56_HUMAN	V	556	ENSP00000305161:A556V	ENSP00000305161:A556V	A	+	2	0	TRIM56	100518980	0.905000	0.30787	0.941000	0.38009	0.222000	0.24845	1.604000	0.36804	2.380000	0.81148	0.591000	0.81541	GCC		0.672	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		5	185	0	0	0	0.014758	0	5	185				
ATRX	546	broad.mit.edu	37	X	76890086	76890086	+	Splice_Site	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:76890086T>C	ENST00000373344.5	-	17	5022	c.4808A>G	c.(4807-4809)cAg>cGg	p.Q1603R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.Q1565R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1603	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCTCTTACCTGTAAAGTCTT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e17+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						153.0	146.0	148.0					X																	76890086		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890086T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4809+1A>G	X.37:g.76890086T>C						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.Q1565_splice	p.Q1603_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	5022	-			1603			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.4809_splice	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487139	0.63962	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94280	-3.39;-3.39	5.57	5.57	0.84162	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.98261	0.9424	H	0.99197	4.465	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.83275	0.979;0.996	D	0.99490	1.0950	10	0.87932	D	0	-5.0791	14.7217	0.69311	0.0:0.0:0.0:1.0	.	1565;1603	P46100-4;P46100	.;ATRX_HUMAN	R	1603;1565	ENSP00000362441:Q1603R;ENSP00000378967:Q1565R	ENSP00000362441:Q1603R	Q	-	2	0	ATRX	76776742	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.673000	0.83973	1.857000	0.53885	0.486000	0.48141	CAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	82	23	0	0	0	0.139131	0	82	23				
CCNG2	901	broad.mit.edu	37	4	78081991	78081991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:78081991A>T	ENST00000316355.5	+	4	750	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	CCNG2_ENST00000354403.5_Nonsense_Mutation_p.K132*|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000395640.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000509972.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	132					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGTCAGTGTAAATGTACTGC	0.363																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(394-396)Aaa>Taa		cyclin G2							101.0	102.0	101.0					4																	78081991		2202	4300	6502	SO:0001587	stop_gained	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78081991A>T	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.394A>T	4.37:g.78081991A>T	ENSP00000315743:p.Lys132*					CCNG2_ENST00000509972.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000354403.5_Nonsense_Mutation_p.K132*|CCNG2_ENST00000395640.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000497512.1_3'UTR	p.K132*	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			4	750	+			132					B4DF25|Q6FGA7|Q6FGC6	Nonsense_Mutation	SNP	ENST00000316355.5	37	c.394A>T	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	A	37	6.311551	0.97462	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000512918;ENST00000509972	.	.	.	5.81	5.81	0.92471	.	0.086835	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1905	16.1713	0.81820	1.0:0.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000315743:K132X	K	+	1	0	CCNG2	78301015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.961000	0.56759	2.221000	0.72209	0.528000	0.53228	AAA		0.363	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		92	148	0	0	0	0.139131	0	92	148				
SNX17	9784	broad.mit.edu	37	2	27599364	27599364	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:27599364C>T	ENST00000233575.2	+	14	1498	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.R401W|SNX17_ENST00000543024.1_Missense_Mutation_p.R212W|SNX17_ENST00000542478.1_Missense_Mutation_p.R212W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	426	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACCCGGGAGTCTAT	0.572																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1276-1278)Cgg>Tgg		sorting nexin 17							165.0	155.0	158.0					2																	27599364		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599364C>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1276C>T	2.37:g.27599364C>T	ENSP00000233575:p.Arg426Trp					SNX17_ENST00000542478.1_Missense_Mutation_p.R212W|SNX17_ENST00000537606.1_Missense_Mutation_p.R401W|SNX17_ENST00000543024.1_Missense_Mutation_p.R212W	p.R426W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			14	1498	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		426					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.1276C>T	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736198	0.49045	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.32988	1.85;1.43;1.43;1.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	L	0.57536	1.79	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.003	D;D;D;B	0.75020	0.985;0.985;0.985;0.001	T	0.50250	-0.8850	10	0.59425	D	0.04	-13.9384	17.8169	0.88637	0.0:1.0:0.0:0.0	.	401;414;406;426	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	W	426;212;401;212	ENSP00000233575:R426W;ENSP00000441779:R212W;ENSP00000439208:R401W;ENSP00000442567:R212W	ENSP00000233575:R426W	R	+	1	2	SNX17	27452868	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.150000	0.31639	2.797000	0.96272	0.561000	0.74099	CGG		0.572	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		77	258	0	0	0	0.139131	0	77	258				
DNMT3B	1789	broad.mit.edu	37	20	31372610	31372610	+	Missense_Mutation	SNP	C	C	G	rs138276579		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:31372610C>G	ENST00000328111.2	+	4	572	c.251C>G	c.(250-252)aCc>aGc	p.T84S	DNMT3B_ENST00000353855.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T96S|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Missense_Mutation_p.T84S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.T84S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	84	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTCTGACACCCCAGTCATG	0.527																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(250-252)aCc>aGc		DNA (cytosine-5-)-methyltransferase 3 beta							88.0	74.0	79.0					20																	31372610		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31372610C>G		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.251C>G	20.37:g.31372610C>G	ENSP00000328547:p.Thr84Ser					DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T96S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.T84S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.T84S	p.T84S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			4	572	+			84			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.251C>G	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602394	0.46423	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;T;D	0.97041	-4.18;-4.21;-4.16;-4.21;-4.04;-0.08;-4.22	4.98	0.455	0.16649	.	1.196870	0.05830	N	0.617375	D	0.92561	0.7637	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.31790	0.02;0.242;0.006;0.242;0.34	B;B;B;B;B	0.34722	0.015;0.188;0.005;0.09;0.135	D	0.86282	0.1668	10	0.23302	T	0.38	-2.2625	6.7075	0.23258	0.0:0.5474:0.0:0.4526	.	84;96;84;84;84	E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;DNM3B_HUMAN	S	84;170;84;84;84;84;84;96	ENSP00000328547:T84S;ENSP00000313397:T84S;ENSP00000337764:T84S;ENSP00000403169:T84S;ENSP00000345105:T84S;ENSP00000364774:T84S;ENSP00000201963:T96S	ENSP00000201963:T96S	T	+	2	0	DNMT3B	30836271	0.000000	0.05858	0.068000	0.19968	0.875000	0.50365	-0.101000	0.10973	0.260000	0.21731	0.655000	0.94253	ACC		0.527	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		3	143	0	0	0	0.115264	0	3	143				
PTPN18	26469	broad.mit.edu	37	2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	rs11892325	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	49	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21497	0.0		0.0	False		,,,				2504	0.0					ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(145-147)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)		G	,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	86.0	86.0		,145	-0.5	0.0	2	dbSNP_120	86	0,8600		0,0,4300	yes	intron,missense	PTPN18	NM_001142370.1,NM_014369.3	,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,49/461	131116491	1,13005	2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116491G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.145G>A	2.37:g.131116491G>A	ENSP00000175756:p.Val49Met					PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	p.V49M	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			2	246	+	Colorectal(110;0.1)		49			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.145G>A	CCDS2161.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.769	0.925447	0.18056	2.27E-4	0.0	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.11712	2.75	3.55	-0.508	0.11980	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.754568	0.10837	N	0.628625	T	0.06826	0.0174	L	0.31371	0.925	0.09310	N	1	B;B	0.25667	0.131;0.022	B;B	0.08055	0.003;0.001	T	0.32322	-0.9911	10	0.51188	T	0.08	.	5.2258	0.15393	0.3156:0.154:0.5304:0.0	rs11892325	49;49	E7EMB8;Q99952	.;PTN18_HUMAN	M	49	ENSP00000175756:V49M	ENSP00000175756:V49M	V	+	1	0	PTPN18	130832961	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.037000	0.13840	-0.379000	0.07906	-1.134000	0.01955	GTG		0.627	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			56	136	0	0	0	0.139131	0	56	136				
CDKN1B	1027	broad.mit.edu	37	12	12871757	12871757	+	Splice_Site	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:12871757A>C	ENST00000228872.4	+	2	1191		c.e2-1		CDKN1B_ENST00000396340.1_Intron|CDKN1B_ENST00000477087.1_Splice_Site	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTGCGCTTAGATTCTTCTA	0.433																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.e2-1		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							71.0	85.0	81.0					12																	12871757		2203	4300	6503	SO:0001630	splice_region_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871757A>C	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.476-1A>C	12.37:g.12871757A>C						CDKN1B_ENST00000477087.1_Splice_Site|CDKN1B_ENST00000396340.1_Intron		NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	2	1191	+		Prostate(47;0.0322)|all_epithelial(100;0.159)						Q16307|Q5U0H2|Q9BUS6	Splice_Site	SNP	ENST00000228872.4	37		CCDS8653.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.692061	0.48097	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000442489	.	.	.	5.13	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7577	0.46247	0.8408:0.1592:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDKN1B	12763024	1.000000	0.71417	0.949000	0.38748	0.714000	0.41099	6.513000	0.73742	0.760000	0.33108	0.533000	0.62120	.		0.433	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064	Intron	6	295	0	0	0	0.029380	0	6	295				
GAS2L2	246176	broad.mit.edu	37	17	34072135	34072135	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:34072135C>T	ENST00000254466.6	-	6	2408	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	794					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2380-2382)cGa>cAa		growth arrest-specific 2 like 2							72.0	78.0	76.0					17																	34072135		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072135C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2381G>A	17.37:g.34072135C>T	ENSP00000254466:p.Arg794Gln					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q	p.R794Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2408	-		Ovarian(249;0.17)	794					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2381G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615895	0.66672	.	.	ENSG00000132139	ENST00000254466	T	0.33216	1.42	4.79	4.79	0.61399	.	0.297654	0.26200	N	0.025754	T	0.46190	0.1380	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.34775	-0.9815	10	0.72032	D	0.01	-13.8801	16.5704	0.84611	0.0:1.0:0.0:0.0	.	794	Q8NHY3	GA2L2_HUMAN	Q	794	ENSP00000254466:R794Q	ENSP00000254466:R794Q	R	-	2	0	GAS2L2	31096248	0.044000	0.20184	0.272000	0.24630	0.443000	0.32047	1.415000	0.34748	2.496000	0.84212	0.561000	0.74099	CGA		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		16	261	0	0	0	0.175082	0	16	261				
ZNF83	55769	broad.mit.edu	37	19	53122219	53122219	+	5'UTR	SNP	A	A	G	rs10402820	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53122219A>G	ENST00000544146.1	-	0	264				ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000541777.2_5'Flank|ZNF83_ENST00000594682.2_Silent_p.L38L|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000600714.1_Silent_p.L38L|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000596930.1_Silent_p.L38L|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000601257.1_Silent_p.L38L	NM_001105549.1	NP_001099019.1	P51522	ZNF83_HUMAN	zinc finger protein 83						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TAATTCTCCAACATCACATCT	0.468													N|||	845	0.16873	0.2943	0.1484	5008	,	,		16632	0.0278		0.2217	False		,,,				2504	0.1043					ENST00000600714.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(112-114)Ttg>Ctg		zinc finger protein 83																																				SO:0001623	5_prime_UTR_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53122219A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000544146.1:c.-478T>C	19.37:g.53122219A>G						ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000596930.1_Silent_p.L38L|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000544146.1_5'UTR	p.L38L			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	4	394	-			0					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000544146.1	37	c.112T>C	CCDS12854.1																																																																																				0.468	ZNF83-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018300		3	139	0	0	0	0.115264	0	3	139				
FMOD	2331	broad.mit.edu	37	1	203316988	203316988	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:203316988G>A	ENST00000354955.4	-	2	874	c.411C>T	c.(409-411)caC>caT	p.H137H	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	137					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(409-411)caC>caT		fibromodulin							95.0	84.0	88.0					1																	203316988		2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316988G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.411C>T	1.37:g.203316988G>A						FMOD_ENST00000464898.1_Intron	p.H137H	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	874	-			137					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.411C>T	CCDS30976.1																																																																																				0.557	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		5	170	0	0	0	0.021553	0	5	170				
PTPRR	5801	broad.mit.edu	37	12	71286466	71286466	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:71286466A>G	ENST00000283228.2	-	2	802	c.350T>C	c.(349-351)aTt>aCt	p.I117T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	117					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCACCACAATTACATTTGC	0.413																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(349-351)aTt>aCt		protein tyrosine phosphatase, receptor type, R							158.0	146.0	150.0					12																	71286466		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286466A>G	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.350T>C	12.37:g.71286466A>G	ENSP00000283228:p.Ile117Thr						p.I117T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	802	-			117					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.350T>C	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098652	0.56183	.	.	ENSG00000153233	ENST00000283228	T	0.04862	3.54	6.05	6.05	0.98169	.	0.000000	0.49916	U	0.000124	T	0.16257	0.0391	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.00883	-1.1528	10	0.87932	D	0	-20.4866	15.7743	0.78198	1.0:0.0:0.0:0.0	.	117	Q15256	PTPRR_HUMAN	T	117	ENSP00000283228:I117T	ENSP00000283228:I117T	I	-	2	0	PTPRR	69572733	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.400000	0.73252	2.320000	0.78422	0.528000	0.53228	ATT		0.413	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		4	246	0	0	0	0.150653	0	4	246				
UNC45B	146862	broad.mit.edu	37	17	33482401	33482401	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:33482401C>T	ENST00000268876.5	+	7	823	c.726C>T	c.(724-726)tgC>tgT	p.C242C	UNC45B_ENST00000591048.1_Silent_p.C242C|UNC45B_ENST00000433649.1_Silent_p.C242C|UNC45B_ENST00000394570.2_Silent_p.C242C|UNC45B_ENST00000378449.1_Silent_p.C242C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	242					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCTGTCTGCAACCTGCTCC	0.552																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(724-726)tgC>tgT		unc-45 homolog B (C. elegans)							188.0	139.0	156.0					17																	33482401		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33482401C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.726C>T	17.37:g.33482401C>T						UNC45B_ENST00000591048.1_Silent_p.C242C|UNC45B_ENST00000378449.1_Silent_p.C242C|UNC45B_ENST00000433649.1_Silent_p.C242C|UNC45B_ENST00000394570.2_Silent_p.C242C	p.C242C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			7	823	+		Ovarian(249;0.17)	242					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.726C>T	CCDS11292.1																																																																																				0.552	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		23	200	0	0	0	0.076483	0	23	200				
PSD	5662	broad.mit.edu	37	10	104173754	104173754	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:104173754A>C	ENST00000020673.5	-	5	1851	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.F442C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	442	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCAGCTCAAAGGTGAAGAA	0.652																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1324-1326)tTt>tGt		pleckstrin and Sec7 domain containing							52.0	64.0	60.0					10																	104173754		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173754A>C	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1325T>G	10.37:g.104173754A>C	ENSP00000020673:p.Phe442Cys					PSD_ENST00000406432.1_Missense_Mutation_p.F442C	p.F442C	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1851	-			442			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1325T>G	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414875	0.83449	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.55052	0.54;0.54	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.36672	1.1	0.40153	D	0.976973	D	0.76494	0.999	P	0.61592	0.891	T	0.65874	-0.6062	10	0.72032	D	0.01	.	15.1215	0.72447	1.0:0.0:0.0:0.0	.	442	A5PKW4	PSD1_HUMAN	C	442;345;442	ENSP00000020673:F442C;ENSP00000384830:F442C	ENSP00000020673:F442C	F	-	2	0	PSD	104163744	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.905000	0.92613	1.978000	0.57642	0.454000	0.30748	TTT		0.652	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			10	109	0	0	0	0.069234	0	10	109				
AIM2	9447	broad.mit.edu	37	1	159035847	159035847	+	Silent	SNP	G	G	A	rs148686373		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:159035847G>A	ENST00000368130.4	-	4	957	c.669C>T	c.(667-669)agC>agT	p.S223S	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	223	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CACGTGAGGCGCTATTTACCT	0.368																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(667-669)agC>agT		absent in melanoma 2		A		0,4406		0,0,2203	122.0	122.0	122.0		669	-5.0	0.0	1	dbSNP_134	122	2,8598	819.1+/-406.8	0,2,4298	no	coding-synonymous	AIM2	NM_004833.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		223/344	159035847	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035847G>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.669C>T	1.37:g.159035847G>A						AIM2_ENST00000481829.1_Intron	p.S223S	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			4	957	-	all_hematologic(112;0.0429)		223			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	37	c.669C>T	CCDS1181.1																																																																																				0.368	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		32	311	0	0	0	0.153744	0	32	311				
KANK4	163782	broad.mit.edu	37	1	62739569	62739569	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:62739569C>T	ENST00000371153.4	-	3	1585	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	403						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGTCTTTGGCGTTCTCTTGG	0.517																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1207-1209)Gcc>Acc		KN motif and ankyrin repeat domains 4							176.0	146.0	156.0					1																	62739569		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739569C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1207G>A	1.37:g.62739569C>T	ENSP00000360195:p.Ala403Thr					KANK4_ENST00000354381.3_Intron	p.A403T	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1585	-			403					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1207G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	0.474	-0.883070	0.02530	.	.	ENSG00000132854	ENST00000371153	T	0.46063	0.88	5.1	-2.85	0.05734	.	1.372090	0.05092	N	0.485473	T	0.18383	0.0441	N	0.11560	0.145	0.45035	D	0.998052	B	0.16166	0.016	B	0.10450	0.005	T	0.46119	-0.9214	10	0.02654	T	1	-2.3594	5.6547	0.17637	0.2034:0.3865:0.0:0.4101	.	403	Q5T7N3	KANK4_HUMAN	T	403	ENSP00000360195:A403T	ENSP00000360195:A403T	A	-	1	0	KANK4	62512157	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.024000	0.03603	-1.252000	0.02491	-1.579000	0.00862	GCC		0.517	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		5	325	0	0	0	0.021553	0	5	325				
HEATR1	55127	broad.mit.edu	37	1	236724539	236724539	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:236724539T>C	ENST00000366582.3	-	33	4746	c.4632A>G	c.(4630-4632)aaA>aaG	p.K1544K	HEATR1_ENST00000366581.2_Silent_p.K1463K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1544					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCAAGGCCTTTTAAAATCT	0.323																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(4630-4632)aaA>aaG		HEAT repeat containing 1							105.0	104.0	104.0					1																	236724539		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236724539T>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4632A>G	1.37:g.236724539T>C						HEATR1_ENST00000366581.2_Silent_p.K1463K	p.K1544K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		33	4746	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1544					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.4632A>G	CCDS31066.1																																																																																				0.323	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	210	0	0	0	0.150653	0	3	210				
ZDHHC11	79844	broad.mit.edu	37	5	850710	850710	+	Missense_Mutation	SNP	G	G	A	rs570868598		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:850710G>A	ENST00000283441.8	-	1	391	c.8C>T	c.(7-9)aCc>aTc	p.T3I	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T3I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	3						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGGAGCGGGTGTCCATCTG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		14646	0.001		0.0	False		,,,				2504	0.0					ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(7-9)aCc>aTc		zinc finger, DHHC-type containing 11							53.0	58.0	57.0					5																	850710		2203	4299	6502	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:850710G>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.8C>T	5.37:g.850710G>A	ENSP00000283441:p.Thr3Ile					ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T3I	p.T3I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		1	391	-			3					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.8C>T	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	c	12.42	1.933900	0.34096	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.32515	1.45;1.45	4.27	-8.54	0.00912	.	.	.	.	.	T	0.13713	0.0332	N	0.22421	0.69	0.09310	N	0.999999	B	0.16603	0.018	B	0.12837	0.008	T	0.33752	-0.9856	9	0.10111	T	0.7	-14.9097	8.2136	0.31499	0.1893:0.3683:0.4425:0.0	.	3	Q9H8X9	ZDH11_HUMAN	I	3	ENSP00000397719:T3I;ENSP00000283441:T3I	ENSP00000283441:T3I	T	-	2	0	ZDHHC11	903710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.268000	0.08607	-1.601000	0.01601	-0.693000	0.03709	ACC		0.617	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		5	142	0	0	0	0.014758	0	5	142				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	197	0	0	0	0.115264	0	3	197				
OR1S1	219959	broad.mit.edu	37	11	57982589	57982589	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:57982589A>T	ENST00000309433.6	+	1	373	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CGTCATTGACAATTTGCTCTT	0.453																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(373-375)Aat>Tat		olfactory receptor, family 1, subfamily S, member 1							183.0	173.0	176.0					11																	57982589		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982589A>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.373A>T	11.37:g.57982589A>T	ENSP00000311688:p.Asn125Tyr						p.N125Y	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	373	+		Breast(21;0.0589)	125					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.373A>T	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099727	0.20552	.	.	ENSG00000172774	ENST00000309433	T	0.00484	7.08	3.45	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.262894	0.26863	N	0.022107	T	0.00754	0.0025	L	0.48935	1.535	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.52260	-0.8599	10	0.66056	D	0.02	.	7.7891	0.29110	0.5901:0.0:0.0:0.4099	.	125	Q8NH92	OR1S1_HUMAN	Y	125	ENSP00000311688:N125Y	ENSP00000311688:N125Y	N	+	1	0	OR1S1	57739165	0.000000	0.05858	0.943000	0.38184	0.134000	0.20937	0.005000	0.13129	1.443000	0.47586	0.392000	0.25879	AAT		0.453	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		171	246	0	0	0	0.139131	0	171	246				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		6	455	0	0	0	0.038147	0	6	455				
MYO3A	53904	broad.mit.edu	37	10	26243813	26243813	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:26243813A>G	ENST00000265944.5	+	4	345	c.179A>G	c.(178-180)gAa>gGa	p.E60G	MYO3A_ENST00000376302.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376301.1_Missense_Mutation_p.E60G|MYO3A_ENST00000543632.1_Missense_Mutation_p.E60G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATATTGACGAAGAGATTGAA	0.318																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(178-180)gAa>gGa		myosin IIIA							103.0	107.0	105.0					10																	26243813		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26243813A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.179A>G	10.37:g.26243813A>G	ENSP00000265944:p.Glu60Gly					MYO3A_ENST00000543632.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376301.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376302.1_Missense_Mutation_p.E60G	p.E60G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			4	345	+			60			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.179A>G	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842740	0.91197	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.0	6.0	0.97389	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.995;1.0;0.998	T	0.81897	-0.0722	10	0.72032	D	0.01	.	16.511	0.84284	1.0:0.0:0.0:0.0	.	60;60;60;60	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	G	60	ENSP00000265944:E60G;ENSP00000365479:E60G;ENSP00000445909:E60G;ENSP00000365478:E60G	ENSP00000265944:E60G	E	+	2	0	MYO3A	26283819	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.490000	0.81461	2.304000	0.77564	0.523000	0.50628	GAA		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		18	260	0	0	0	0.049695	0	18	260				
SMCO4	56935	broad.mit.edu	37	11	93212240	93212240	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:93212240G>A	ENST00000298966.2	-	3	501	c.116C>T	c.(115-117)gCc>gTc	p.A39V	SMCO4_ENST00000527149.1_Missense_Mutation_p.A39V|SMCO4_ENST00000525141.1_Missense_Mutation_p.A39V	NM_020179.2	NP_064564.1	Q9NRQ5	SMCO4_HUMAN	single-pass membrane protein with coiled-coil domains 4	39						integral component of membrane (GO:0016021)											CACGACCACGGCCAGCGTGGG	0.652																																						ENST00000298966.2																			0											c.(115-117)gCc>gTc		single-pass membrane protein with coiled-coil domains 4							100.0	84.0	89.0					11																	93212240		2201	4298	6499	SO:0001583	missense	56935							g.chr11:93212240G>A	BC031564	CCDS8292.1	11q21	2013-03-11	2013-03-11	2013-03-11	ENSG00000166002	ENSG00000166002			24810	protein-coding gene	gene with protein product		609477	"""chromosome 11 open reading frame 75"""	C11orf75		10863097	Standard	NM_020179		Approved	FN5	uc001pds.4	Q9NRQ5	OTTHUMG00000167442	ENST00000298966.2:c.116C>T	11.37:g.93212240G>A	ENSP00000298966:p.Ala39Val					SMCO4_ENST00000525141.1_Missense_Mutation_p.A39V|SMCO4_ENST00000527149.1_Missense_Mutation_p.A39V	p.A39V	NM_020179.2	NP_064564.1					3	501	-									Missense_Mutation	SNP	ENST00000298966.2	37	c.116C>T	CCDS8292.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057094	0.76074	.	.	ENSG00000166002	ENST00000525141;ENST00000298966;ENST00000527149;ENST00000529714;ENST00000526869	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	.	.	.	0.58432	D	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.59590	-0.7426	8	0.72032	D	0.01	-26.4816	20.428	0.99075	0.0:0.0:1.0:0.0	.	39	Q9NRQ5	CK075_HUMAN	V	39	.	ENSP00000298966:A39V	A	-	2	0	C11orf75	92851888	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.276000	0.78559	2.837000	0.97791	0.655000	0.94253	GCC		0.652	SMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394630.1	NM_020179		10	92	0	0	0	0.069234	0	10	92				
CATIP	375307	broad.mit.edu	37	2	219232561	219232561	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:219232561C>T	ENST00000289388.3	+	10	1067	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		346					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCACCTTCGCCGCCGAGT	0.701																																						ENST00000289388.3																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1036-1038)ttC>ttT		chromosome 2 open reading frame 62							30.0	31.0	31.0					2																	219232561		2197	4290	6487	SO:0001819	synonymous_variant	375307							g.chr2:219232561C>T																												ENST00000289388.3:c.1038C>T	2.37:g.219232561C>T						C2orf62_ENST00000481940.1_3'UTR	p.F346F	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1067	+		Renal(207;0.0915)	346						Silent	SNP	ENST00000289388.3	37	c.1038C>T	CCDS2414.1																																																																																				0.701	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			6	53	0	0	0	0.021553	0	6	53				
SNHG14	104472715	broad.mit.edu	37	15	25320979	25320979	+	RNA	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr15:25320979A>G	ENST00000549804.2	+	0	1075				SNORD116-12_ENST00000384468.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-10_ENST00000363791.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CATGTTTGGCATGGTCTCCTT	0.473																																						ENST00000549804.2																			0																																																			0							g.chr15:25320979A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25320979A>G														0	1075	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.473	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			15	15	0	0	0	0.119110	0	15	15				
MGAT4A	11320	broad.mit.edu	37	2	99279632	99279632	+	Silent	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:99279632G>A	ENST00000264968.3	-	4	777	c.414C>T	c.(412-414)gtC>gtT	p.V138V	MGAT4A_ENST00000393487.1_Silent_p.V138V|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000414521.2_Silent_p.V10V|MGAT4A_ENST00000409391.1_Silent_p.V138V			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	138					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GAATGCCCATGACTATTGAAA	0.323																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(412-414)gtC>gtT		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							94.0	107.0	103.0					2																	99279632		2203	4294	6497	SO:0001819	synonymous_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99279632G>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.414C>T	2.37:g.99279632G>A						MGAT4A_ENST00000414521.2_Silent_p.V10V|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Silent_p.V138V|MGAT4A_ENST00000409391.1_Silent_p.V138V	p.V138V	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			5	727	-			138					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	ENST00000264968.3	37	c.414C>T	CCDS2036.1																																																																																				0.323	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		6	469	0	0	0	0.021553	0	6	469				
ZNF99	7652	broad.mit.edu	37	19	22941101	22941101	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:22941101T>C	ENST00000596209.1	-	4	1700	c.1610A>G	c.(1609-1611)tAc>tGc	p.Y537C	ZNF99_ENST00000397104.3_Missense_Mutation_p.Y446C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGTAGGGTTTCTT	0.343																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1336-1338)tAc>tGc		zinc finger protein 99							35.0	37.0	36.0					19																	22941101		1991	4174	6165	SO:0001583	missense	7652							g.chr19:22941101T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1610A>G	19.37:g.22941101T>C	ENSP00000472969:p.Tyr537Cys					ZNF99_ENST00000596209.1_Missense_Mutation_p.Y537C	p.Y446C							5	1336	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1337A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	9.177	1.022493	0.19433	.	.	ENSG00000213973	ENST00000397104	T	0.25414	1.8	1.29	-0.142	0.13448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40398	0.1115	M	0.77313	2.365	0.09310	N	1	P	0.46952	0.887	P	0.56343	0.796	T	0.26815	-1.0092	9	0.87932	D	0	.	4.8281	0.13427	0.4938:0.0:0.0:0.5062	.	446	A8MXY4	ZNF99_HUMAN	C	446	ENSP00000380293:Y446C	ENSP00000380293:Y446C	Y	-	2	0	ZNF99	22732941	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.978000	0.29488	-0.302000	0.08869	0.329000	0.21502	TAC		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	275	0	0	0	0.029380	0	5	275				
RMI1	80010	broad.mit.edu	37	9	86616940	86616940	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:86616940C>G	ENST00000325875.3	+	3	1371	c.1039C>G	c.(1039-1041)Cga>Gga	p.R347G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	347					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATGCCGATCGAAGTATAGA	0.343																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1039-1041)Cga>Gga		RecQ mediated genome instability 1							45.0	48.0	47.0					9																	86616940		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86616940C>G	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1039C>G	9.37:g.86616940C>G	ENSP00000317039:p.Arg347Gly						p.R347G	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1371	+			347					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1039C>G	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352140	0.01256	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.43688	0.94;1.54	5.52	-6.58	0.01836	.	0.765894	0.11454	N	0.562484	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.18398	-1.0338	10	0.23302	T	0.38	6.6665	5.6185	0.17444	0.6864:0.0929:0.132:0.0887	.	347	Q9H9A7	RMI1_HUMAN	G	347	ENSP00000402433:R347G;ENSP00000317039:R347G	ENSP00000317039:R347G	R	+	1	2	RMI1	85806760	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.923000	0.04000	-1.111000	0.02988	-0.262000	0.10625	CGA		0.343	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		16	100	0	0	0	0.132662	0	16	100				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	60	0	0	0	0.021553	0	3	60				
COL1A2	1278	broad.mit.edu	37	7	94033881	94033881	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94033881C>T	ENST00000297268.6	+	7	764	c.293C>T	c.(292-294)cCt>cTt	p.P98L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	98					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTAATGGGACCTAGAGGCCCA	0.443										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	GRCh37	CI063671	COL1A2	I		c.(292-294)cCt>cTt		collagen, type I, alpha 2	Collagenase(DB00048)						79.0	80.0	80.0					7																	94033881		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94033881C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.293C>T	7.37:g.94033881C>T	ENSP00000297268:p.Pro98Leu	HNSCC(75;0.22)					p.P98L	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	764	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		98					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.293C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549081	0.65311	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96041	-3.89	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.66506	2.035	0.80722	D	1	D;D	0.60160	0.987;0.964	P;P	0.58620	0.842;0.824	D	0.96527	0.9390	10	0.72032	D	0.01	.	15.4318	0.75105	0.0:0.9317:0.0:0.0683	.	98;98	B4DTF5;P08123	.;CO1A2_HUMAN	L	98;99	ENSP00000297268:P98L	ENSP00000297268:P98L	P	+	2	0	COL1A2	93871817	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	5.559000	0.67326	2.894000	0.99253	0.655000	0.94253	CCT		0.443	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		4	163	0	0	0	0.150653	0	4	163				
RNASEL	6041	broad.mit.edu	37	1	182554707	182554707	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:182554707C>T	ENST00000367559.3	-	2	1488	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RNASEL_ENST00000539397.1_Missense_Mutation_p.R412Q|RNASEL_ENST00000444138.1_Missense_Mutation_p.R412Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ACTGTTCTCTCGGCTGCTTTG	0.532																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1234-1236)cGa>cAa		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							88.0	85.0	86.0					1																	182554707		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554707C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1235G>A	1.37:g.182554707C>T	ENSP00000356530:p.Arg412Gln					RNASEL_ENST00000444138.1_Missense_Mutation_p.R412Q|RNASEL_ENST00000539397.1_Missense_Mutation_p.R412Q	p.R412Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	1488	-			412			Protein kinase.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.1235G>A	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845498	0.71603	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000543858;ENST00000539397	T;T;T	0.19105	2.17;2.17;2.17	5.95	3.77	0.43336	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.336643	0.25741	N	0.028611	T	0.16642	0.0400	M	0.62016	1.91	0.09310	N	1	P;B;P	0.44776	0.843;0.393;0.843	B;B;B	0.34536	0.185;0.114;0.185	T	0.17077	-1.0381	10	0.13108	T	0.6	-12.1516	10.7178	0.46023	0.0:0.7724:0.0:0.2276	.	412;412;412	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	Q	412;412;56;412	ENSP00000356530:R412Q;ENSP00000411147:R412Q;ENSP00000440844:R412Q	ENSP00000356530:R412Q	R	-	2	0	RNASEL	180821330	0.000000	0.05858	0.160000	0.22671	0.996000	0.88848	-0.569000	0.05902	1.528000	0.49103	0.650000	0.86243	CGA		0.532	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		14	175	0	0	0	0.146539	0	14	175				
MCCC2	64087	broad.mit.edu	37	5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A	rs371374378		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:70944989G>A	ENST00000340941.6	+	14	1411	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	428	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(1282-1284)Gct>Act		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)	G	THR/ALA	0,4406		0,0,2203	102.0	100.0	101.0		1282	5.5	0.6	5		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCCC2	NM_022132.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	428/564	70944989	1,13005	2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70944989G>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1282G>A	5.37:g.70944989G>A	ENSP00000343657:p.Ala428Thr					MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	p.A428T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	14	1411	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	428			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.1282G>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456013	0.84209	0.0	1.16E-4	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.98345	-4.88;-4.88;-4.88	5.54	5.54	0.83059	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.100610	0.64402	D	0.000002	D	0.99384	0.9783	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98537	1.0630	10	0.87932	D	0	-12.8005	18.2637	0.90044	0.0:0.0:1.0:0.0	.	428	Q9HCC0	MCCB_HUMAN	T	428;390;200	ENSP00000343657:A428T;ENSP00000327308:A390T;ENSP00000425474:A200T	ENSP00000327308:A390T	A	+	1	0	MCCC2	70980745	1.000000	0.71417	0.582000	0.28627	0.368000	0.29767	7.993000	0.88291	2.614000	0.88457	0.650000	0.86243	GCT		0.512	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			5	152	0	0	0	0.014758	0	5	152				
CACNA1B	774	broad.mit.edu	37	9	140850187	140850187	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:140850187C>T	ENST00000371372.1	+	8	1253	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	370					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGAACCGCCGCGCCTTCCT	0.642																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1108-1110)Cgc>Tgc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						21.0	26.0	25.0					9																	140850187		2002	4168	6170	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140850187C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1108C>T	9.37:g.140850187C>T	ENSP00000360423:p.Arg370Cys					CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370C	p.R370C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	8	1253	+	all_cancers(76;0.166)		370					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1108C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054636	0.75960	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.65	3.61	0.41365	.	0.123853	0.56097	N	0.000026	D	0.94928	0.8360	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	D	0.95131	0.8255	10	0.72032	D	0.01	.	14.1087	0.65109	0.3181:0.6819:0.0:0.0	.	370	B1AQK6	.	C	370	ENSP00000360423:R370C;ENSP00000277551:R370C;ENSP00000360414:R370C;ENSP00000360408:R370C;ENSP00000360406:R370C	ENSP00000277551:R370C	R	+	1	0	CACNA1B	139970008	0.995000	0.38212	0.989000	0.46669	0.971000	0.66376	2.807000	0.47955	1.228000	0.43614	0.485000	0.47835	CGC		0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		10	17	0	0	0	0.069234	0	10	17				
ZNF733P	643955	broad.mit.edu	37	7	62758650	62758650	+	RNA	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:62758650A>G	ENST00000331425.6	-	0	227					NR_003952.1				zinc finger protein 733, pseudogene																		TCACCCAGGGAGACCAAGTTT	0.358																																						ENST00000331425.6																			0																																																			0							g.chr7:62758650A>G			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62758650A>G								NR_003952.1						0	227	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.358	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	166	0	0	0	0.021553	0	5	166				
PLCE1	51196	broad.mit.edu	37	10	95790842	95790842	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:95790842T>C	ENST00000371380.3	+	1	274	c.39T>C	c.(37-39)ccT>ccC	p.P13P	PLCE1_ENST00000260766.3_Silent_p.P13P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	13					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCTCATACCTGTGACTCAGA	0.418																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(37-39)ccT>ccC		phospholipase C, epsilon 1							87.0	82.0	84.0					10																	95790842		1894	4106	6000	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95790842T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.39T>C	10.37:g.95790842T>C						PLCE1_ENST00000371380.2_Silent_p.P13P	p.P13P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	673	+		Colorectal(252;0.0458)	13					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.39T>C	CCDS41552.1																																																																																				0.418	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		4	197	0	0	0	0.014758	0	4	197				
AMY2B	280	broad.mit.edu	37	1	104115689	104115689	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:104115689G>A	ENST00000361355.4	+	5	936	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	107					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCTAGGTTCGTATTTATGTG	0.368																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(319-321)cGt>cAt		amylase, alpha 2B (pancreatic)							363.0	354.0	357.0					1																	104115689		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115689G>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.320G>A	1.37:g.104115689G>A	ENSP00000354610:p.Arg107His					AMY2B_ENST00000491397.1_3'UTR	p.R107H	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	936	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	107					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.320G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893834	0.33442	.	.	ENSG00000240038	ENST00000361355	D	0.98419	-4.92	4.58	-0.538	0.11868	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.465814	0.25590	N	0.029626	D	0.94225	0.8146	M	0.74258	2.255	0.18873	N	0.999983	B	0.20550	0.046	B	0.23018	0.043	D	0.91594	0.5289	10	0.56958	D	0.05	.	9.1803	0.37138	0.6564:0.0:0.3436:0.0	.	107	P19961	AMY2B_HUMAN	H	107	ENSP00000354610:R107H	ENSP00000354610:R107H	R	+	2	0	AMY2B	103917212	0.002000	0.14202	0.922000	0.36590	0.715000	0.41141	0.712000	0.25779	0.006000	0.14734	-0.151000	0.13558	CGT		0.368	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		146	793	0	0	0	0.139131	0	146	793				
KCNC3	3748	broad.mit.edu	37	19	50826645	50826645	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:50826645A>G	ENST00000477616.1	-	2	1859	c.1565T>C	c.(1564-1566)cTg>cCg	p.L522P	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.L522P|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	522					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CAGGGCACACAGCGCCCCGAC	0.602																																					Melanoma(91;1496 2324 50908)	ENST00000376959.2																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(1564-1566)cTg>cCg		potassium voltage-gated channel, Shaw-related subfamily, member 3							85.0	84.0	84.0					19																	50826645		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50826645A>G	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1565T>C	19.37:g.50826645A>G	ENSP00000434241:p.Leu522Pro					KCNC3_ENST00000477616.1_Missense_Mutation_p.L522P|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	p.L522P			Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	1728	-		all_neural(266;0.057)|Ovarian(192;0.208)	522						Missense_Mutation	SNP	ENST00000477616.1	37	c.1565T>C	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566093	0.45694	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98762	-5.12;-5.12	3.26	3.26	0.37387	Ion transport (1);	0.000000	0.53938	U	0.000056	D	0.98921	0.9634	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.99320	1.0906	10	0.87932	D	0	.	11.0013	0.47607	1.0:0.0:0.0:0.0	.	522;522	Q14003;E7ETH1	KCNC3_HUMAN;.	P	522;522;336	ENSP00000366158:L522P;ENSP00000434241:L522P	ENSP00000366158:L522P	L	-	2	0	KCNC3	55518457	1.000000	0.71417	0.978000	0.43139	0.396000	0.30629	8.923000	0.92808	1.501000	0.48654	0.402000	0.26972	CTG		0.602	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		3	74	0	0	0	0.115264	0	3	74				
CCDC158	339965	broad.mit.edu	37	4	77244544	77244544	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:77244544A>G	ENST00000388914.3	-	23	3328	c.3176T>C	c.(3175-3177)aTa>aCa	p.I1059T		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1059										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTGTTTCTATTGGCGGAGA	0.353																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(3175-3177)aTa>aCa		coiled-coil domain containing 158							232.0	205.0	213.0					4																	77244544		1813	4082	5895	SO:0001583	missense	339965							g.chr4:77244544A>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3176T>C	4.37:g.77244544A>G	ENSP00000373566:p.Ile1059Thr						p.I1059T	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			23	3328	-			1059					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.3176T>C	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.152832	0.38021	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.30981	1.51	5.22	5.22	0.72569	.	0.655577	0.14067	N	0.343685	T	0.20455	0.0492	N	0.12182	0.205	0.80722	D	1	B	0.14438	0.01	B	0.21151	0.033	T	0.05784	-1.0864	10	0.66056	D	0.02	.	11.671	0.51401	1.0:0.0:0.0:0.0	.	1059	Q5M9N0	CD158_HUMAN	T	1059;479	ENSP00000373566:I1059T	ENSP00000316815:I479T	I	-	2	0	CCDC158	77463568	0.999000	0.42202	0.994000	0.49952	0.997000	0.91878	4.667000	0.61561	2.320000	0.78422	0.528000	0.53228	ATA		0.353	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		35	343	0	0	0	0.173368	0	35	343				
OAF	220323	broad.mit.edu	37	11	120097624	120097624	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:120097624C>G	ENST00000328965.4	+	3	979	c.466C>G	c.(466-468)Ccc>Gcc	p.P156A	OAF_ENST00000531220.1_Missense_Mutation_p.P40A	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	156						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGCTGAGCCCCCATCTCCA	0.642																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(466-468)Ccc>Gcc		OAF homolog (Drosophila)							64.0	56.0	59.0					11																	120097624		2203	4300	6503	SO:0001583	missense	220323							g.chr11:120097624C>G	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.466C>G	11.37:g.120097624C>G	ENSP00000332613:p.Pro156Ala					OAF_ENST00000531220.1_Missense_Mutation_p.P40A	p.P156A	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	3	979	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	156						Missense_Mutation	SNP	ENST00000328965.4	37	c.466C>G	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	C	8.837	0.941253	0.18281	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.27104	1.69;1.69	5.43	5.43	0.79202	.	0.256940	0.40728	N	0.001028	T	0.15955	0.0384	N	0.21583	0.68	0.34263	D	0.680103	B	0.16603	0.018	B	0.10450	0.005	T	0.20538	-1.0272	10	0.16896	T	0.51	-9.6503	10.3913	0.44171	0.0:0.8801:0.0:0.1199	.	156	Q86UD1	OAF_HUMAN	A	156;40	ENSP00000332613:P156A;ENSP00000431865:P40A	ENSP00000332613:P156A	P	+	1	0	OAF	119602834	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.779000	0.26746	2.532000	0.85374	0.561000	0.74099	CCC		0.642	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		54	75	0	0	0	0.139131	0	54	75				
NTSR2	23620	broad.mit.edu	37	2	11798782	11798782	+	Silent	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:11798782A>T	ENST00000306928.5	-	4	1090	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	352					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGAGTCACAGCTGAGCTGA	0.532																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(1054-1056)gcT>gcA		neurotensin receptor 2	Levocabastine(DB01106)						106.0	105.0	105.0					2																	11798782		2203	4300	6503	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11798782A>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1056T>A	2.37:g.11798782A>T							p.A352A	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	4	1090	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		352					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.1056T>A	CCDS1681.1																																																																																				0.532	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			4	174	0	0	0	0.014758	0	4	174				
C12orf65	91574	broad.mit.edu	37	12	123741402	123741402	+	Missense_Mutation	SNP	C	C	T	rs372252104		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:123741402C>T	ENST00000253233.1	+	3	969	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000544890.1_RNA|RP11-282O18.3_ENST00000542427.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000429587.2_Missense_Mutation_p.R109W|C12orf65_ENST00000366329.2_Missense_Mutation_p.R109W	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	109	GGQ domain. {ECO:0000250}.				cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAAGCTAGCTCGGAAAATCCT	0.368																																						ENST00000253233.1																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(325-327)Cgg>Tgg		chromosome 12 open reading frame 65		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	58.0	57.0		325,325,325	3.8	1.0	12		57	0,8600		0,0,4300	no	missense,missense,missense	C12orf65	NM_001143905.2,NM_001194995.1,NM_152269.4	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	109/167,109/167,109/167	123741402	1,13005	2203	4300	6503	SO:0001583	missense	91574					mitochondrion	translation release factor activity	g.chr12:123741402C>T	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.325C>T	12.37:g.123741402C>T	ENSP00000253233:p.Arg109Trp					C12orf65_ENST00000429587.2_Missense_Mutation_p.R109W|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.R109W	p.R109W	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)	3	969	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		109					Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	c.325C>T	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386325	0.82902	2.27E-4	0.0	ENSG00000130921	ENST00000253233;ENST00000366329;ENST00000543139;ENST00000429587	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.86	3.83	0.44106	Peptide chain release factor class I/class II (1);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.45422	1.42	0.46901	D	0.999244	D	0.89917	1.0	D	0.97110	1.0	T	0.00802	-1.1560	10	0.66056	D	0.02	-23.8149	11.2497	0.49017	0.5028:0.4972:0.0:0.0	.	109	Q9H3J6	CL065_HUMAN	W	109	ENSP00000253233:R109W;ENSP00000390647:R109W;ENSP00000444843:R109W;ENSP00000391513:R109W	ENSP00000253233:R109W	R	+	1	2	C12orf65	122307355	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	2.671000	0.46842	1.436000	0.47453	0.644000	0.83932	CGG		0.368	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269		6	100	0	0	0	0.021553	0	6	100				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	43	0	0	0	0.115264	0	3	43				
OR13C2	392376	broad.mit.edu	37	9	107367614	107367614	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:107367614C>A	ENST00000542196.1	-	1	337	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACATCTGCACTGCACAGCCA	0.522																																						ENST00000542196.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(295-297)Gtg>Ttg		olfactory receptor, family 13, subfamily C, member 2							136.0	125.0	129.0					9																	107367614		2203	4300	6503	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367614C>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.295G>T	9.37:g.107367614C>A	ENSP00000438815:p.Val99Leu						p.V99L	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	337	-			99					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.295G>T	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	4.187	0.033254	0.08101	.	.	ENSG00000257019	ENST00000542196	T	0.01139	5.28	3.53	-0.895	0.10560	GPCR, rhodopsin-like superfamily (1);	0.265076	0.19460	U	0.113703	T	0.00580	0.0019	N	0.03881	-0.34	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46484	-0.9188	10	0.41790	T	0.15	.	4.1456	0.10214	0.0:0.3545:0.1808:0.4647	.	99	Q8NGS9	O13C2_HUMAN	L	99	ENSP00000438815:V99L	ENSP00000438815:V99L	V	-	1	0	OR13C2	106407435	0.000000	0.05858	0.001000	0.08648	0.949000	0.60115	-2.540000	0.00937	-0.109000	0.12044	0.462000	0.41574	GTG		0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		21	232	1	0	2.79863e-10	0.099896	3.28839e-10	21	232				
VSIG1	340547	broad.mit.edu	37	X	107310285	107310285	+	Silent	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:107310285T>C	ENST00000217957.5	+	3	450	c.333T>C	c.(331-333)agT>agC	p.S111S	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Silent_p.S147S	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	111	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGACAGTGGAATTTACA	0.463																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(439-441)agT>agC		V-set and immunoglobulin domain containing 1							214.0	168.0	183.0					X																	107310285		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107310285T>C	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.333T>C	X.37:g.107310285T>C						VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.S111S	p.S147S	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			4	602	+			111		V -> I (in dbSNP:rs17254305).	Ig-like C2-type 2.		C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.441T>C	CCDS14535.1																																																																																				0.463	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		4	166	0	0	0	0.150653	0	4	166				
CUBN	8029	broad.mit.edu	37	10	16883005	16883005	+	Silent	SNP	C	C	T	rs370784621	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:16883005C>T	ENST00000377833.4	-	61	9770	c.9705G>A	c.(9703-9705)acG>acA	p.T3235T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3235	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCACAAAACGTTCCAGCCA	0.363													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18072	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(9703-9705)acG>acA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	T		3,4403	6.2+/-15.9	0,3,2200	101.0	90.0	94.0		9705	-3.9	0.0	10		94	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		3235/3624	16883005	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16883005C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9705G>A	10.37:g.16883005C>T							p.T3235T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			61	9770	-			3235			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9705G>A	CCDS7113.1																																																																																				0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	99	0	0	0	0.146539	0	16	99				
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700532delT																													1.37:g.700532delT								NR_033908.1						0	1021	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			4	6						4	6	---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70633381	70633382	+	Frame_Shift_Ins	INS	-	-	C	rs374042054		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr14:70633381_70633382insC	ENST00000381269.2	-	2	2511_2512	c.1758_1759insG	c.(1756-1761)gagttgfs	p.L587fs	SLC8A3_ENST00000357887.3_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000528359.1_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000356921.2_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000534137.1_Frame_Shift_Ins_p.L587fs	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	587	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGAATTCCAACTCCCCATATG	0.505																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1756-1761)gatggafs		solute carrier family 8 (sodium/calcium exchanger), member 3																																				SO:0001589	frameshift_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633381_70633382insC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1759dupG	14.37:g.70633382_70633382dupC	ENSP00000370669:p.Leu587fs					SLC8A3_ENST00000356921.2_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000534137.1_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000528359.1_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000357887.3_Frame_Shift_Ins_p.DG586fs	p.DG586fs	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2511_2512	-			586			Calx-beta 2.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Frame_Shift_Ins	INS	ENST00000381269.2	37	c.1758_1759insG	CCDS35498.1																																																																																				0.505	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			14	120						14	120	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					ENST00000382352.3																			3	Deletion - In frame(3)	p.A159delA(3)	prostate(2)|large_intestine(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(460-465)ccg>c		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del						p.PA154del	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	952_954	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	154					Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																				0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			4	7						4	7	---	---	---	---
