#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
LARGE	9215	broad.mit.edu	37	22	33670592	33670592	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:33670592G>A	ENST00000354992.2	-	16	2663	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	LARGE_ENST00000397394.2_Silent_p.L698L|LARGE_ENST00000437602.2_Silent_p.L649L|LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000402320.1_Silent_p.L646L|LARGE_ENST00000452586.2_Silent_p.L497L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	698					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCGTTGGGCAGCACAATGAAC	0.512											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2092-2094)Ctg>Ttg		like-glycosyltransferase							114.0	95.0	101.0					22																	33670592		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33670592G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2092C>T	22.37:g.33670592G>A			Somatic	OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000402320.1_Silent_p.L646L|LARGE_ENST00000452586.2_Silent_p.L497L|LARGE_ENST00000397394.2_Silent_p.L698L|LARGE_ENST00000437602.2_Silent_p.L649L	p.L698L	NM_004737.4	NP_004728.1	WXS	Illumina GAIIx	Phase_I	O95461	LARGE_HUMAN			16	2663	-		Lung NSC(1;0.219)	698					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.2092C>T	CCDS13912.1																																																																																				0.512	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		3	65	0	0	0	1	0	3	65				
TMCO3	55002	broad.mit.edu	37	13	114150116	114150116	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:114150116G>A	ENST00000434316.2	+	2	579	c.220G>A	c.(220-222)Gca>Aca	p.A74T	TMCO3_ENST00000375391.1_Missense_Mutation_p.A74T|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	74						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTGAAAACTGCAATTGGAGC	0.517																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(220-222)Gca>Aca		transmembrane and coiled-coil domains 3							53.0	52.0	53.0					13																	114150116		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114150116G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.220G>A	13.37:g.114150116G>A	ENSP00000389399:p.Ala74Thr		Somatic				TMCO3_ENST00000375391.1_Missense_Mutation_p.A74T|TMCO3_ENST00000474393.1_3'UTR	p.A74T	NM_017905.4	NP_060375.4	WXS	Illumina GAIIx	Phase_I	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	579	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	74					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.220G>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490517	0.64074	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.32272	1.46	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.71656	0.882;0.974	T	0.53858	-0.8379	10	0.44086	T	0.13	-16.5107	19.3579	0.94422	0.0:0.0:1.0:0.0	.	74;74	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	T	74	ENSP00000389399:A74T	ENSP00000364540:A74T	A	+	1	0	TMCO3	113198117	1.000000	0.71417	0.113000	0.21522	0.027000	0.11550	9.267000	0.95665	2.590000	0.87494	0.555000	0.69702	GCA		0.517	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		22	17	0	0	0	1	0	22	17				
AHCYL1	10768	broad.mit.edu	37	1	110562247	110562247	+	Splice_Site	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:110562247G>C	ENST00000369799.5	+	15	1831	c.1464G>C	c.(1462-1464)atG>atC	p.M488I	AHCYL1_ENST00000393614.4_Splice_Site_p.M441I|AHCYL1_ENST00000359172.3_Splice_Site_p.M441I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	488					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTAAGAAAATGGGTGAGTGAA	0.443																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.e15+1		adenosylhomocysteinase-like 1							115.0	119.0	118.0					1																	110562247		2203	4300	6503	SO:0001630	splice_region_variant	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110562247G>C	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1465+1G>C	1.37:g.110562247G>C			Somatic				AHCYL1_ENST00000393614.4_Splice_Site_p.M441_splice|AHCYL1_ENST00000359172.3_Splice_Site_p.M441_splice	p.M488_splice	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	WXS	Illumina GAIIx	Phase_I	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	15	1831	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	488					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Splice_Site	SNP	ENST00000369799.5	37	c.1465_splice	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835375	0.91117	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75704	-0.96;-0.96;-0.96	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	N	0.17764	0.52	0.80722	D	1	P	0.45428	0.858	P	0.53006	0.715	T	0.74127	-0.3765	10	0.87932	D	0	-6.034	20.3967	0.98985	0.0:0.0:1.0:0.0	.	488	O43865	SAHH2_HUMAN	I	488;441;441	ENSP00000358814:M488I;ENSP00000352092:M441I;ENSP00000377238:M441I	ENSP00000352092:M441I	M	+	3	0	AHCYL1	110363770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.829000	0.97493	0.655000	0.94253	ATG		0.443	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1		Missense_Mutation	7	81	0	0	0	1	0	7	81				
DMWD	1762	broad.mit.edu	37	19	46294225	46294225	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:46294225C>A	ENST00000270223.6	-	2	607	c.562G>T	c.(562-564)Gcg>Tcg	p.A188S	DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.A188S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	188										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ACTTGACCCGCTGAGAAGCCC	0.557																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(562-564)Gcg>Tcg		dystrophia myotonica, WD repeat containing							157.0	149.0	152.0					19																	46294225		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46294225C>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.562G>T	19.37:g.46294225C>A	ENSP00000270223:p.Ala188Ser		Somatic				DMWD_ENST00000377735.3_Missense_Mutation_p.A188S|DMWD_ENST00000601370.1_5'UTR	p.A188S	NM_004943.1	NP_004934.1	WXS	Illumina GAIIx	Phase_I	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	2	607	-		Ovarian(192;0.0308)|all_neural(266;0.112)	188						Missense_Mutation	SNP	ENST00000270223.6	37	c.562G>T	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	c	17.30	3.354962	0.61293	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.26660	1.72;1.72	3.87	1.73	0.24493	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.251340	0.31323	N	0.007844	T	0.16342	0.0393	L	0.28400	0.85	0.36174	D	0.848994	P;P	0.38167	0.621;0.487	B;B	0.39738	0.308;0.163	T	0.17319	-1.0373	10	0.15066	T	0.55	-12.7593	8.4144	0.32662	0.0:0.8001:0.0:0.1999	.	188;188	G5E9A7;Q09019	.;DMWD_HUMAN	S	188	ENSP00000366964:A188S;ENSP00000270223:A188S	ENSP00000270223:A188S	A	-	1	0	DMWD	50986065	1.000000	0.71417	0.004000	0.12327	0.662000	0.39071	5.464000	0.66719	0.619000	0.30197	0.556000	0.70494	GCG		0.557	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		5	170	1	0	0.217242	1	0.226897	5	170				
THAP4	51078	broad.mit.edu	37	2	242572757	242572757	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:242572757C>G	ENST00000407315.1	-	2	1246	c.815G>C	c.(814-816)aGc>aCc	p.S272T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	272							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCAGGCTGCTCCCACTGCA	0.622																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(814-816)aGc>aCc		THAP domain containing 4							72.0	78.0	76.0					2																	242572757		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242572757C>G	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.815G>C	2.37:g.242572757C>G	ENSP00000385006:p.Ser272Thr		Somatic					p.S272T	NM_015963.5	NP_057047.4	WXS	Illumina GAIIx	Phase_I	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1246	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	272					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.815G>C	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710283	0.03230	.	.	ENSG00000176946	ENST00000407315	D	0.95949	-3.86	5.28	-0.942	0.10398	.	1.064320	0.07442	N	0.897461	D	0.85353	0.5677	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74791	-0.3545	10	0.02654	T	1	-16.1926	6.7634	0.23552	0.0:0.3267:0.286:0.3872	.	272	Q8WY91	THAP4_HUMAN	T	272	ENSP00000385006:S272T	ENSP00000385006:S272T	S	-	2	0	THAP4	242221430	0.000000	0.05858	0.000000	0.03702	0.640000	0.38277	-0.620000	0.05565	-0.439000	0.07222	0.650000	0.86243	AGC		0.622	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		9	62	0	0	0	1	0	9	62				
CNGA2	1260	broad.mit.edu	37	X	150912423	150912423	+	Missense_Mutation	SNP	G	G	A	rs374694060		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16316	0.0		0.0	False		,,,				2504	0.0					ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1447-1449)cGc>cAc		cyclic nucleotide gated channel alpha 2		G	HIS/ARG	5,3830		0,4,1,1628,570	131.0	112.0	118.0		1448	4.4	1.0	X		118	0,6728		0,0,0,2428,1872	no	missense	CNGA2	NM_005140.1	29	0,4,1,4056,2442	AA,AG,A,GG,G		0.0,0.1304,0.0473	probably-damaging	483/665	150912423	5,10558	2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912423G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1448G>A	X.37:g.150912423G>A	ENSP00000328478:p.Arg483His		Somatic					p.R483H	NM_005140.1	NP_005131.1	WXS	Illumina GAIIx	Phase_I	Q16280	CNGA2_HUMAN			6	1481	+	Acute lymphoblastic leukemia(192;6.56e-05)		483					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1448G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205767	0.58234	0.001304	0.0	ENSG00000183862	ENST00000329903	D	0.93247	-3.19	5.27	4.41	0.53225	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.050712	0.85682	N	0.000000	D	0.95896	0.8664	M	0.74389	2.26	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.95498	0.8575	10	0.72032	D	0.01	.	10.9848	0.47516	0.0938:0.0:0.9062:0.0	.	483	Q16280	CNGA2_HUMAN	H	483	ENSP00000328478:R483H	ENSP00000328478:R483H	R	+	2	0	CNGA2	150663079	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.629000	0.83207	1.005000	0.39183	-0.260000	0.10688	CGC		0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	236	0	0	0	1	0	4	236				
AKAP1	8165	broad.mit.edu	37	17	55183914	55183914	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:55183914G>T	ENST00000337714.3	+	2	1322	c.1089G>T	c.(1087-1089)gtG>gtT	p.V363V	AKAP1_ENST00000539273.1_Silent_p.V363V|AKAP1_ENST00000314126.3_Silent_p.V363V|AKAP1_ENST00000572557.1_Silent_p.V363V|AKAP1_ENST00000571629.1_Silent_p.V363V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	363					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCGAACAGGTGCTGGCCACCA	0.532																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(1087-1089)gtG>gtT		A kinase (PRKA) anchor protein 1							81.0	88.0	86.0					17																	55183914		2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183914G>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1089G>T	17.37:g.55183914G>T			Somatic				AKAP1_ENST00000572557.1_Silent_p.V363V|AKAP1_ENST00000571629.1_Silent_p.V363V|AKAP1_ENST00000314126.3_Silent_p.V363V|AKAP1_ENST00000539273.1_Silent_p.V363V	p.V363V	NM_003488.3	NP_003479.1	WXS	Illumina GAIIx	Phase_I	Q92667	AKAP1_HUMAN			2	1322	+	Breast(9;5.46e-08)		363					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.1089G>T	CCDS11594.1																																																																																				0.532	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			8	98	1	0	0.000157383	1	0.000182642	8	98				
TCERG1	10915	broad.mit.edu	37	5	145838725	145838725	+	Silent	SNP	C	C	T	rs527340881	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:145838725C>T	ENST00000296702.5	+	4	755	c.717C>T	c.(715-717)gcC>gcT	p.A239A	TCERG1_ENST00000394421.2_Silent_p.A239A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	239	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggcccaggcccaggctcagg	0.672																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(715-717)gcC>gcT		transcription elongation regulator 1							48.0	52.0	51.0					5																	145838725		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838725C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.717C>T	5.37:g.145838725C>T			Somatic				TCERG1_ENST00000394421.2_Silent_p.A239A	p.A239A	NM_006706.3	NP_006697.2	WXS	Illumina GAIIx	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	755	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	239			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.717C>T	CCDS4282.1																																																																																				0.672	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		3	50	0	0	0	1	0	3	50				
BPIFC	254240	broad.mit.edu	37	22	32828366	32828366	+	Missense_Mutation	SNP	C	C	T	rs150852332	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:32828366C>T	ENST00000397452.1	-	11	1253	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.M381I|BPIFC_ENST00000534972.1_Missense_Mutation_p.M105I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	381						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TTACGAAGTCCATGGAAACGA	0.502																																						ENST00000397452.1																			0											c.(1141-1143)atG>atA		BPI fold containing family C							176.0	158.0	164.0					22																	32828366		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828366C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1143G>A	22.37:g.32828366C>T	ENSP00000380594:p.Met381Ile		Somatic				BPIFC_ENST00000300399.3_Missense_Mutation_p.M381I|BPIFC_ENST00000534972.1_Missense_Mutation_p.M105I|BPIFC_ENST00000432451.2_Intron	p.M381I			WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			11	1253	-			381					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1143G>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394668	0.83011	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.05925	3.37;3.37;3.37	5.86	5.86	0.93980	.	0.147481	0.64402	D	0.000007	T	0.17492	0.0420	M	0.83384	2.64	0.41315	D	0.987137	P	0.49253	0.921	P	0.47044	0.535	T	0.00862	-1.1536	10	0.36615	T	0.2	-28.6573	17.1032	0.86655	0.0:1.0:0.0:0.0	.	381	Q8NFQ6	BPIFC_HUMAN	I	381;381;105	ENSP00000380594:M381I;ENSP00000300399:M381I;ENSP00000439123:M105I	ENSP00000300399:M381I	M	-	3	0	BPIFC	31158366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.993000	0.56987	2.781000	0.95711	0.650000	0.86243	ATG		0.502	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		3	70	0	0	0	1	0	3	70				
PTCHD2	57540	broad.mit.edu	37	1	11561899	11561899	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:11561899G>A	ENST00000294484.6	+	2	988	c.850G>A	c.(850-852)Gac>Aac	p.D284N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D284N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	284					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCGCGCGGCGACGCGGAGCG	0.637																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(850-852)Gac>Aac		patched domain containing 2							20.0	22.0	22.0					1																	11561899		2003	4177	6180	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561899G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.850G>A	1.37:g.11561899G>A	ENSP00000294484:p.Asp284Asn		Somatic				PTCHD2_ENST00000389575.3_Missense_Mutation_p.D284N	p.D284N	NM_020780.1	NP_065831.1	WXS	Illumina GAIIx	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	988	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	284					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.850G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895437	0.91962	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.27720	1.65;1.65	5.67	4.76	0.60689	.	0.156225	0.56097	N	0.000034	T	0.39410	0.1077	L	0.32530	0.975	0.48632	D	0.999685	D	0.89917	1.0	P	0.60012	0.867	T	0.14117	-1.0484	10	0.42905	T	0.14	-44.4084	13.3646	0.60676	0.0746:0.0:0.9254:0.0	.	284	Q9P2K9	PTHD2_HUMAN	N	284	ENSP00000294484:D284N;ENSP00000374226:D284N	ENSP00000294484:D284N	D	+	1	0	PTCHD2	11484486	1.000000	0.71417	0.908000	0.35775	0.988000	0.76386	5.067000	0.64357	1.405000	0.46838	0.655000	0.94253	GAC		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		6	17	0	0	0	1	0	6	17				
LOC643733	643733	broad.mit.edu	37	11	104776250	104776250	+	RNA	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:104776250G>A	ENST00000532510.1	-	0	3182																											TGATGAAGATGGAGCCCCTTG	0.438																																						ENST00000532510.1																			0																																																			643733							g.chr11:104776250G>A																													11.37:g.104776250G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	3182	-									RNA	SNP	ENST00000532510.1	37																																																																																						0.438	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			11	162	0	0	0	1	0	11	162				
HUWE1	10075	broad.mit.edu	37	X	53564526	53564526	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:53564526T>G	ENST00000342160.3	-	77	12585	c.12128A>C	c.(12127-12129)aAg>aCg	p.K4043T	HUWE1_ENST00000262854.6_Missense_Mutation_p.K4043T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4043	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAATCGATTCTTCATTTCTTC	0.542																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12127-12129)aAg>aCg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							94.0	64.0	74.0					X																	53564526		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53564526T>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12128A>C	X.37:g.53564526T>G	ENSP00000340648:p.Lys4043Thr		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.K4043T	p.K4043T			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			77	12585	-			4043			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12128A>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.98|15.98	2.992196|2.992196	0.54041|0.54041	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|D;D	.|0.82255	.|-1.59;-1.59	5.78|5.78	5.78|5.78	0.91487|0.91487	.|HECT (3);	.|0.054011	.|0.64402	.|D	.|0.000001	D|D	0.92612|0.92612	0.7653|0.7653	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.987;0.993	.|D;D;D	.|0.79108	.|0.986;0.981;0.992	D|D	0.94004|0.94004	0.7278|0.7278	5|10	.|0.87932	.|D	.|0	.|.	12.708|12.708	0.57073|0.57073	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|865;4043;4027	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	D|T	3076;865|4043	.|ENSP00000340648:K4043T;ENSP00000262854:K4043T	.|ENSP00000262854:K4043T	E|K	-|-	3|2	2|0	HUWE1|HUWE1	53581251|53581251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.263000|7.263000	0.78421|0.78421	2.058000|2.058000	0.61347|0.61347	0.486000|0.486000	0.48141|0.48141	GAA|AAG		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	51	0	0	0	1	0	4	51				
WNK1	65125	broad.mit.edu	37	12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:1009828C>A	ENST00000315939.6	+	26	7278	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q	WNK1_ENST00000537687.1_Missense_Mutation_p.P2472Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			2	Substitution - Missense(2)	p.P2212Q(1)|p.P2472Q(1)	lung(2)	breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(7414-7416)cCa>cAa		WNK lysine deficient protein kinase 1							207.0	193.0	197.0					12																	1009828		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1009828C>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6635C>A	12.37:g.1009828C>A	ENSP00000313059:p.Pro2212Gln		Somatic				WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q	p.P2472Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	WXS	Illumina GAIIx	Phase_I	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		26	8058	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2212					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.7415C>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791277	0.50102	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908;ENST00000543065	T;T;T;T;T	0.73258	-0.73;-0.69;-0.68;-0.73;0.46	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000017	T	0.47303	0.1438	N	0.03608	-0.345	0.34754	D	0.732084	P;B;B	0.40431	0.717;0.383;0.264	B;B;B	0.37198	0.243;0.095;0.044	T	0.63305	-0.6667	10	0.41790	T	0.15	-12.7775	13.7811	0.63084	0.1533:0.8467:0.0:0.0	.	1965;1964;2212	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	1964;2212;2472;1385;2710;154;1805;22	ENSP00000441972:P1964Q;ENSP00000313059:P2212Q;ENSP00000444465:P2472Q;ENSP00000433548:P2710Q;ENSP00000341292:P1805Q	ENSP00000252477:P1385Q	P	+	2	0	WNK1	880089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.348000	0.59379	2.688000	0.91661	0.563000	0.77884	CCA		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	265	1	0	0.00909568	1	0.00994179	4	265				
CACNA1C	775	broad.mit.edu	37	12	2800282	2800282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:2800282G>T	ENST00000347598.4	+	49	6478	c.6478G>T	c.(6478-6480)Gag>Tag	p.E2160*	CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E2132*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E2147*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E2147*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E2120*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E2137*|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E2120*|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E2129*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E2153*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E2112*|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E2140*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E2118*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2195					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGGGGCGAAGAGGACGCGGG	0.692																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(6334-6336)Gag>Tag		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						18.0	24.0	22.0					12																	2800282		1943	4113	6056	SO:0001587	stop_gained	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2800282G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6478G>T	12.37:g.2800282G>T	ENSP00000266376:p.Glu2160*		Somatic				CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E2120*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E2132*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E2129*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E2153*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E2147*|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E2140*|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E2137*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E2147*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E2120*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E2118*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.E2160*	p.E2112*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	WXS	Illumina GAIIx	Phase_I	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	47	6599	+			2195					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	c.6334G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	47	13.218725	0.99728	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.49	3.57	0.40892	.	0.571672	0.17895	N	0.158385	.	.	.	.	.	.	0.48975	D	0.999739	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	9.8568	0.41090	0.0:0.1521:0.6901:0.1577	.	.	.	.	X	2137;2112;2112;2140;2112;2131;2131;2120;2112;2160;2132;2112;2153;2129;2147;2118;2131;2112;2183;2147;2183;2120;2013	.	ENSP00000323129:E2013X	E	+	1	0	CACNA1C	2670543	1.000000	0.71417	0.618000	0.29105	0.864000	0.49448	3.874000	0.56101	1.211000	0.43351	0.591000	0.81541	GAG		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	11	1	0	1.23904e-05	1	1.46503e-05	4	11				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A			Somatic				CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S	p.S151S	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	115	0	0	0	1	0	7	115				
C1orf192	257177	broad.mit.edu	37	1	161335453	161335453	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:161335453G>T	ENST00000367974.1	-	4	216	c.211C>A	c.(211-213)Cct>Act	p.P71T	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	71										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCTTCAGAGGCATTTGCCAG	0.502																																						ENST00000367974.1																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(211-213)Cct>Act		chromosome 1 open reading frame 192							116.0	126.0	122.0					1																	161335453		2203	4300	6503	SO:0001583	missense	257177							g.chr1:161335453G>T		CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.211C>A	1.37:g.161335453G>T	ENSP00000356951:p.Pro71Thr		Somatic					p.P71T	NM_001013625.2	NP_001013647.2	WXS	Illumina GAIIx	Phase_I	Q5VTH2	CA192_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	216	-	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		71						Missense_Mutation	SNP	ENST00000367974.1	37	c.211C>A	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378742	0.82682	.	.	ENSG00000188931	ENST00000367974	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.72350	0.3449	M	0.63843	1.955	0.35763	D	0.820357	D	0.89917	1.0	D	0.97110	1.0	T	0.70536	-0.4845	8	0.44086	T	0.13	-10.3308	17.2234	0.86963	0.0:0.0:1.0:0.0	.	71	Q5VTH2	CA192_HUMAN	T	71	.	ENSP00000356951:P71T	P	-	1	0	C1orf192	159602077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.298000	0.65710	2.735000	0.93741	0.655000	0.94253	CCT		0.502	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		7	262	1	0	2.0095e-06	1	2.40628e-06	7	262				
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A	rs372236521	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17321	0.0		0.0	False		,,,				2504	0.0					ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3034-3036)gCg>gTg		eukaryotic translation initiation factor 3, subunit A		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	297.0	222.0	247.0		3035	0.5	0.0	10		247	0,8600		0,0,4300	no	missense	EIF3A	NM_003750.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1012/1383	120801997	2,13004	2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801997G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3035C>T	10.37:g.120801997G>A	ENSP00000358140:p.Ala1012Val		Somatic				EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	p.A1012V	NM_003750.2	NP_003741.1	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3162	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1012			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3035C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717526	0.03182	4.54E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24151	1.87;1.87	5.91	0.478	0.16789	.	1.821580	0.04002	N	0.296629	T	0.23133	0.0559	L	0.48642	1.525	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.0	T	0.21484	-1.0244	10	0.30078	T	0.28	0.1809	5.8168	0.18497	0.2967:0.3625:0.3408:0.0	.	978;1012	F5H335;Q14152	.;EIF3A_HUMAN	V	1012;978	ENSP00000358140:A1012V;ENSP00000438178:A978V	ENSP00000358140:A1012V	A	-	2	0	EIF3A	120791987	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	0.258000	0.18387	-0.167000	0.10871	-0.137000	0.14449	GCG		0.572	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		4	432	0	0	0	1	0	4	432				
IPO5	3843	broad.mit.edu	37	13	98671935	98671935	+	Silent	SNP	C	C	A	rs145166442		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:98671935C>A	ENST00000490680.1	+	24	3002	c.2937C>A	c.(2935-2937)atC>atA	p.I979I	IPO5_ENST00000261574.5_Silent_p.I997I|IPO5_ENST00000539640.1_Silent_p.I854I			O00410	IPO5_HUMAN	importin 5	979					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.I997I(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAGGGAAAATCATGAAGTTCA	0.433																																						ENST00000261574.5																			1	Substitution - coding silent(1)	p.I997I(1)	skin(1)	breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(2989-2991)atC>atA		importin 5							127.0	118.0	121.0					13																	98671935		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98671935C>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2937C>A	13.37:g.98671935C>A			Somatic				IPO5_ENST00000490680.1_Silent_p.I979I|IPO5_ENST00000539640.1_Silent_p.I854I	p.I997I	NM_002271.4	NP_002262.3	WXS	Illumina GAIIx	Phase_I	O00410	IPO5_HUMAN			27	3171	+			979					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.2991C>A		.	.	.	.	.	.	.	.	.	.	C	9.555	1.116908	0.20795	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.95	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.5349	0.811	0.01093	0.2845:0.2226:0.2945:0.1984	.	.	.	.	X	981	.	.	S	+	2	0	IPO5	97469936	0.188000	0.23250	0.100000	0.21137	0.991000	0.79684	-0.408000	0.07169	-2.368000	0.00604	-0.133000	0.14855	TCA		0.433	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		46	125	1	0	2.215e-12	1	2.79477e-12	46	125				
CKAP5	9793	broad.mit.edu	37	11	46786750	46786750	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:46786750T>A	ENST00000529230.1	-	28	3514	c.3468A>T	c.(3466-3468)aaA>aaT	p.K1156N	CKAP5_ENST00000312055.5_Missense_Mutation_p.K1156N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1156N|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.K1156N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1156					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TAGGCCCGGATTTGTCTTCAT	0.408																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3466-3468)aaA>aaT		cytoskeleton associated protein 5							196.0	178.0	184.0					11																	46786750		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46786750T>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3468A>T	11.37:g.46786750T>A	ENSP00000432768:p.Lys1156Asn		Somatic				CKAP5_ENST00000312055.5_Missense_Mutation_p.K1156N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K1156N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1156N	p.K1156N			WXS	Illumina GAIIx	Phase_I	Q14008	CKAP5_HUMAN			28	3514	-			1156					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.3468A>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696813	0.30142	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.49139	0.8;0.79;0.81;0.81	5.5	1.49	0.22878	Armadillo-type fold (1);	0.044515	0.85682	D	0.000000	T	0.58666	0.2138	M	0.66939	2.045	0.45634	D	0.998562	B;D;B	0.69078	0.397;0.997;0.411	B;D;B	0.71656	0.371;0.974;0.145	T	0.55042	-0.8202	10	0.18276	T	0.48	-7.4076	10.1912	0.43028	0.0:0.2213:0.0:0.7787	.	1156;1156;1156	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	N	1156	ENSP00000432768:K1156N;ENSP00000395302:K1156N;ENSP00000310227:K1156N;ENSP00000346566:K1156N	ENSP00000310227:K1156N	K	-	3	2	CKAP5	46743326	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.375000	0.34295	0.397000	0.25310	0.460000	0.39030	AAA		0.408	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		26	92	0	0	0	1	0	26	92				
NKAPL	222698	broad.mit.edu	37	6	28227518	28227518	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:28227518G>A	ENST00000343684.3	+	1	421	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	123										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGAGGCTGAAGGAGAGAGAGA	0.542																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(367-369)aaG>aaA		NFKB activating protein-like							87.0	93.0	91.0					6																	28227518		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227518G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.369G>A	6.37:g.28227518G>A			Somatic					p.K123K	NM_001007531.1	NP_001007532.1	WXS	Illumina GAIIx	Phase_I	Q5M9Q1	NKAPL_HUMAN			1	421	+			123					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.369G>A	CCDS34353.1																																																																																				0.542	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			50	87	0	0	0	1	0	50	87				
COL4A5	1287	broad.mit.edu	37	X	107930823	107930823	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:107930823C>G	ENST00000361603.2	+	47	4653	c.4409C>G	c.(4408-4410)aCa>aGa	p.T1470R	COL4A5_ENST00000328300.6_Missense_Mutation_p.T1476R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1470	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACAGCCAGACAACGGATGCA	0.517									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4426-4428)aCa>aGa		collagen, type IV, alpha 5							142.0	127.0	132.0					X																	107930823		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107930823C>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4409C>G	X.37:g.107930823C>G	ENSP00000354505:p.Thr1470Arg		Somatic				COL4A5_ENST00000361603.2_Missense_Mutation_p.T1470R	p.T1476R	NM_033380.2	NP_203699.1	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			49	4671	+			1470			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4427C>G	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.326886|4.326886	0.81690|0.81690	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	.|D;D	.|0.94897	.|-3.55;-3.55	5.58|5.58	5.58|5.58	0.84498|0.84498	.|C-type lectin fold (1);	.|0.184608	.|0.47093	.|D	.|0.000241	D|D	0.97564|0.97564	0.9202|0.9202	M|M	0.86028|0.86028	2.79|2.79	0.53005|0.53005	D|D	0.999962|0.999962	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.98256|0.98256	1.0496|1.0496	5|10	.|0.87932	.|D	.|0	.|.	18.6316|18.6316	0.91361|0.91361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1473;1470	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	E|R	75|1476;1470;1476	.|ENSP00000331902:T1476R;ENSP00000354505:T1470R	.|ENSP00000331902:T1476R	Q|T	+|+	1|2	0|0	COL4A5|COL4A5	107817479|107817479	0.979000|0.979000	0.34478|0.34478	0.998000|0.998000	0.56505|0.56505	0.887000|0.887000	0.51463|0.51463	2.570000|2.570000	0.45981|0.45981	2.343000|2.343000	0.79666|0.79666	0.600000|0.600000	0.82982|0.82982	CAA|ACA		0.517	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			11	147	0	0	0	1	0	11	147				
NR2F2	7026	broad.mit.edu	37	15	96877541	96877541	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:96877541G>A	ENST00000394166.3	+	2	2068	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	NR2F2_ENST00000394171.2_Missense_Mutation_p.A74T|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_Missense_Mutation_p.A74T|NR2F2_ENST00000421109.2_Missense_Mutation_p.A94T	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	227	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CGTCGAGTGGGCCCGGAACAT	0.612																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(679-681)Gcc>Acc		nuclear receptor subfamily 2, group F, member 2							143.0	133.0	137.0					15																	96877541		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877541G>A	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.679G>A	15.37:g.96877541G>A	ENSP00000377721:p.Ala227Thr		Somatic				NR2F2_ENST00000421109.2_Missense_Mutation_p.A94T|NR2F2_ENST00000394171.2_Missense_Mutation_p.A74T|NR2F2_ENST00000453270.2_Missense_Mutation_p.A74T	p.A227T	NM_021005.3	NP_066285.1	WXS	Illumina GAIIx	Phase_I	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2068	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		227			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.679G>A	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	36	5.892527	0.97074	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.97279	-0.15;-0.15;-4.32;-4.32	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.059534	0.64402	D	0.000004	D	0.98254	0.9422	M	0.83953	2.67	0.80722	D	1	P;P	0.50369	0.526;0.934	P;P	0.59643	0.61;0.861	D	0.99494	1.0951	10	0.87932	D	0	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	227;94	P24468;Q3KQR7	COT2_HUMAN;.	T	94;227;74;74	ENSP00000401674:A94T;ENSP00000377721:A227T;ENSP00000377726:A74T;ENSP00000389853:A74T	ENSP00000377721:A227T	A	+	1	0	NR2F2	94678545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.306000	0.77630	0.561000	0.74099	GCC		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			4	148	0	0	0	1	0	4	148				
CASP8	841	broad.mit.edu	37	2	202137391	202137391	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:202137391A>G	ENST00000432109.2	+	5	631	c.442A>G	c.(442-444)Aag>Gag	p.K148E	CASP8_ENST00000264274.9_Missense_Mutation_p.K148E|CASP8_ENST00000264275.5_Missense_Mutation_p.K180E|CASP8_ENST00000392266.3_Missense_Mutation_p.K148E|CASP8_ENST00000323492.7_Missense_Mutation_p.K148E|CASP8_ENST00000358485.4_Missense_Mutation_p.K207E|CASP8_ENST00000392258.3_Missense_Mutation_p.K148E|CASP8_ENST00000392259.2_Missense_Mutation_p.K148E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	148	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGAGATGGAGAAGAGGGTCAT	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(619-621)Aag>Gag		caspase 8, apoptosis-related cysteine peptidase							128.0	132.0	131.0					2																	202137391		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202137391A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.442A>G	2.37:g.202137391A>G	ENSP00000412523:p.Lys148Glu	HNSCC(4;0.00038)	Somatic				CASP8_ENST00000264274.9_Missense_Mutation_p.K148E|CASP8_ENST00000264275.5_Missense_Mutation_p.K180E|CASP8_ENST00000323492.7_Missense_Mutation_p.K148E|CASP8_ENST00000432109.2_Missense_Mutation_p.K148E|CASP8_ENST00000392258.3_Missense_Mutation_p.K148E|CASP8_ENST00000392259.2_Missense_Mutation_p.K148E|CASP8_ENST00000392266.3_Missense_Mutation_p.K148E	p.K207E	NM_001080125.1	NP_001073594.1	WXS	Illumina GAIIx	Phase_I	Q14790	CASP8_HUMAN			4	815	+			148					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.619A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338396	0.81911	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	T;D;D;D;T;D;D;D;D;T;D;T;D;D	0.82984	3.84;-1.67;-1.67;-1.67;3.96;-1.67;-1.67;-1.67;-1.67;3.88;-1.67;3.84;-1.67;-1.67	5.98	5.98	0.97165	DEATH-like (2);Death effector (3);	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	M	0.78285	2.405	0.40411	D	0.979742	P;D;D;D;D;D;D;D;D;D	0.89917	0.839;0.999;1.0;1.0;1.0;1.0;0.998;0.994;0.999;1.0	P;D;D;D;D;D;D;D;D;D	0.80764	0.801;0.983;0.989;0.99;0.994;0.98;0.971;0.944;0.98;0.983	D	0.86896	0.2051	10	0.08837	T	0.75	.	14.2105	0.65762	1.0:0.0:0.0:0.0	.	148;148;148;148;148;207;148;148;180;148	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	E	148;148;148;148;148;180;45;148;148;207;148;148;148;11;11	ENSP00000376091:K148E;ENSP00000264274:K148E;ENSP00000376088:K148E;ENSP00000376094:K148E;ENSP00000412523:K148E;ENSP00000264275:K180E;ENSP00000391709:K45E;ENSP00000376087:K148E;ENSP00000388306:K148E;ENSP00000351273:K207E;ENSP00000397528:K148E;ENSP00000325722:K148E;ENSP00000390346:K11E;ENSP00000394434:K11E	ENSP00000264274:K148E	K	+	1	0	CASP8	201845636	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	6.472000	0.73567	2.289000	0.77006	0.482000	0.46254	AAG		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		84	217	0	0	0	1	0	84	217				
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:20871907T>G	ENST00000262715.5	-	6	1209	c.1169A>C	c.(1168-1170)cAc>cCc	p.H390P	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627																																						ENST00000262715.5																			1	Substitution - Missense(1)	p.H390P(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1168-1170)cAc>cCc		telomerase-associated protein 1							68.0	78.0	74.0					14																	20871907		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871907T>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1169A>C	14.37:g.20871907T>G	ENSP00000262715:p.His390Pro		Somatic				TEP1_ENST00000556935.1_Intron	p.H390P	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1209	-	all_cancers(95;0.00123)	all_lung(585;0.235)	390			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1169A>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417857	0.42918	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.14266	2.52	5.54	2.72	0.32119	TROVE (2);	0.475270	0.23102	N	0.051916	T	0.06005	0.0156	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.37686	-0.9695	10	0.27785	T	0.31	-7.7791	6.2821	0.21013	0.0:0.6791:0.1515:0.1694	.	390	Q99973	TEP1_HUMAN	P	390	ENSP00000262715:H390P	ENSP00000262715:H390P	H	-	2	0	TEP1	19941747	0.000000	0.05858	0.001000	0.08648	0.403000	0.30841	0.030000	0.13688	0.286000	0.22352	-0.242000	0.12053	CAC		0.627	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		8	147	0	0	0	1	0	8	147				
TYR	7299	broad.mit.edu	37	11	88911925	88911925	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:88911925C>A	ENST00000263321.5	+	1	1306	c.804C>A	c.(802-804)ttC>ttA	p.F268L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	268					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CAGCATCATTCTTCTCCTCTT	0.463																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(802-804)ttC>ttA		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						100.0	84.0	89.0					11																	88911925		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911925C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.804C>A	11.37:g.88911925C>A	ENSP00000263321:p.Phe268Leu		Somatic				TYR_ENST00000526139.1_3'UTR	p.F268L	NM_000372.4	NP_000363.1	WXS	Illumina GAIIx	Phase_I	P14679	TYRO_HUMAN			1	1306	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	268					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.804C>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267379	0.40095	.	.	ENSG00000077498	ENST00000263321	D	0.95949	-3.86	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.138602	0.64402	D	0.000003	D	0.93733	0.7997	L	0.55103	1.725	0.46654	D	0.999147	P	0.37548	0.599	B	0.39503	0.301	D	0.91969	0.5585	9	.	.	.	.	14.2203	0.65823	0.0:0.9239:0.0:0.0761	.	268	P14679	TYRO_HUMAN	L	268	ENSP00000263321:F268L	.	F	+	3	2	TYR	88551573	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.781000	0.38644	2.885000	0.99019	0.655000	0.94253	TTC		0.463	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		3	112	1	0	1	1	1	3	112				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			645752							g.chr15:78208916C>G																													15.37:g.78208916C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	77	0	0	0	1	0	3	77				
TXNDC11	51061	broad.mit.edu	37	16	11785336	11785336	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:11785336T>C	ENST00000356957.3	-	9	1898	c.1791A>G	c.(1789-1791)acA>acG	p.T597T	TXNDC11_ENST00000283033.5_Silent_p.T570T|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	597					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCTCAGGCCTGTGAAGTTTG	0.463																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1789-1791)acA>acG		thioredoxin domain containing 11							147.0	141.0	143.0					16																	11785336		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785336T>C	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1791A>G	16.37:g.11785336T>C			Somatic				TXNDC11_ENST00000283033.5_Silent_p.T570T	p.T597T			WXS	Illumina GAIIx	Phase_I	Q6PKC3	TXD11_HUMAN			9	1898	-			597					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1791A>G																																																																																					0.463	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		3	244	0	0	0	1	0	3	244				
PBRM1	55193	broad.mit.edu	37	3	52637659	52637659	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:52637659A>C	ENST00000296302.7	-	17	2658	c.2657T>G	c.(2656-2658)cTt>cGt	p.L886R	PBRM1_ENST00000409767.1_Missense_Mutation_p.L901R|PBRM1_ENST00000410007.1_Missense_Mutation_p.L886R|PBRM1_ENST00000356770.4_Missense_Mutation_p.L854R|PBRM1_ENST00000337303.4_Missense_Mutation_p.L886R|PBRM1_ENST00000409114.3_Missense_Mutation_p.L901R|PBRM1_ENST00000409057.1_Missense_Mutation_p.L886R|PBRM1_ENST00000394830.3_Missense_Mutation_p.L886R			Q86U86	PB1_HUMAN	polybromo 1	886					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGTGAAAGAAGAATCTCTCC	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2560-2562)cTt>cGt		polybromo 1							78.0	75.0	76.0					3																	52637659		2203	4299	6502	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637659A>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2657T>G	3.37:g.52637659A>C	ENSP00000296302:p.Leu886Arg		Somatic				PBRM1_ENST00000410007.1_Missense_Mutation_p.L886R|PBRM1_ENST00000394830.3_Missense_Mutation_p.L886R|PBRM1_ENST00000409767.1_Missense_Mutation_p.L901R|PBRM1_ENST00000337303.4_Missense_Mutation_p.L886R|PBRM1_ENST00000409057.1_Missense_Mutation_p.L886R|PBRM1_ENST00000296302.7_Missense_Mutation_p.L886R|PBRM1_ENST00000409114.3_Missense_Mutation_p.L901R	p.L854R			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2563	-			886			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2561T>G		.	.	.	.	.	.	.	.	.	.	A	25.7	4.662958	0.88251	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.98;1.0;0.96;0.97;0.97;1.42;0.96;0.97;1.07	5.72	5.72	0.89469	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.991;0.999;0.997;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.87578	0.993;0.995;0.977;0.993;0.989;0.998;0.993;0.993;0.993	T	0.70619	-0.4822	10	0.72032	D	0.01	-12.6412	16.3035	0.82836	1.0:0.0:0.0:0.0	.	886;886;886;886;901;901;886;854;886	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	854;886;886;886;886;886;901;901;886;845	ENSP00000349213:L854R;ENSP00000378307:L886R;ENSP00000296302:L886R;ENSP00000338302:L886R;ENSP00000386593:L886R;ENSP00000386529:L886R;ENSP00000386643:L901R;ENSP00000386601:L901R;ENSP00000387775:L886R;ENSP00000397662:L845R	ENSP00000296302:L886R	L	-	2	0	PBRM1	52612699	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.255000	0.95524	2.299000	0.77371	0.528000	0.53228	CTT		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		4	28	0	0	0	1	0	4	28				
TMPRSS11F	389208	broad.mit.edu	37	4	68934474	68934474	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:68934474A>G	ENST00000356291.2	-	7	676	c.617T>C	c.(616-618)aTt>aCt	p.I206T	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	206	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCCTTGGACAATTCTTTGAGT	0.473																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(616-618)aTt>aCt		transmembrane protease, serine 11F							117.0	106.0	109.0					4																	68934474		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68934474A>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.617T>C	4.37:g.68934474A>G	ENSP00000348639:p.Ile206Thr		Somatic				RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	p.I206T	NM_207407.2	NP_997290.2	WXS	Illumina GAIIx	Phase_I	Q6ZWK6	TM11F_HUMAN			7	676	-			206			Peptidase S1.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.617T>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742180	0.69418	.	.	ENSG00000198092	ENST00000356291	D	0.95482	-3.72	5.82	5.82	0.92795	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.103686	0.42053	D	0.000765	D	0.96734	0.8934	M	0.87971	2.92	0.43907	D	0.996542	P	0.40578	0.722	P	0.48598	0.583	D	0.97073	0.9779	10	0.87932	D	0	.	12.575	0.56359	1.0:0.0:0.0:0.0	.	206	Q6ZWK6	TM11F_HUMAN	T	206	ENSP00000348639:I206T	ENSP00000348639:I206T	I	-	2	0	TMPRSS11F	68617069	0.933000	0.31639	0.984000	0.44739	0.739000	0.42172	5.624000	0.67764	2.228000	0.72767	0.533000	0.62120	ATT		0.473	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		32	101	0	0	0	1	0	32	101				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu		Somatic				CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	p.K152E	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	114	0	0	0	1	0	7	114				
OR4C15	81309	broad.mit.edu	37	11	55322748	55322748	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:55322748A>T	ENST00000314644.2	+	1	966	c.966A>T	c.(964-966)aaA>aaT	p.K322N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCCTTGACAAAATGGCGGCAA	0.388										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(964-966)aaA>aaT		olfactory receptor, family 4, subfamily C, member 15							203.0	201.0	201.0					11																	55322748		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322748A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.966A>T	11.37:g.55322748A>T	ENSP00000324958:p.Lys322Asn	HNSCC(20;0.049)	Somatic					p.K322N	NM_001001920.1	NP_001001920.1	WXS	Illumina GAIIx	Phase_I	Q8NGM1	OR4CF_HUMAN			1	966	+			268					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.966A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674893	0.29783	.	.	ENSG00000181939	ENST00000314644	T	0.00207	8.55	5.02	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	H	0.94345	3.525	0.20196	N	0.999927	D	0.89917	1.0	D	0.97110	1.0	T	0.34875	-0.9811	9	0.87932	D	0	.	7.8614	0.29511	0.7175:0.0:0.2825:0.0	.	268	Q8NGM1	OR4CF_HUMAN	N	322	ENSP00000324958:K322N	ENSP00000324958:K322N	K	+	3	2	OR4C15	55079324	0.000000	0.05858	0.258000	0.24420	0.083000	0.17756	-0.105000	0.10907	0.018000	0.15052	0.317000	0.21355	AAA		0.388	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		34	486	0	0	0	1	0	34	486				
ZFYVE26	23503	broad.mit.edu	37	14	68274334	68274334	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:68274334G>T	ENST00000347230.4	-	5	805	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	ZFYVE26_ENST00000555452.1_Silent_p.R223R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	223					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CGCAGAGTCCGCAGGGCTCCA	0.612																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(667-669)Cgg>Agg		zinc finger, FYVE domain containing 26							50.0	50.0	50.0					14																	68274334		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274334G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.667C>A	14.37:g.68274334G>T			Somatic				ZFYVE26_ENST00000555452.1_Silent_p.R223R	p.R223R	NM_015346.3	NP_056161.2	WXS	Illumina GAIIx	Phase_I	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	805	-			223					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.667C>A	CCDS9788.1																																																																																				0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		4	81	1	0	2.56e-06	1	3.04608e-06	4	81				
B4GALNT3	283358	broad.mit.edu	37	12	658990	658990	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:658990C>T	ENST00000266383.5	+	10	922	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	303					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGCAGCCAGCCACGTGGACT	0.632																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(907-909)agC>agT		beta-1,4-N-acetyl-galactosaminyl transferase 3							59.0	59.0	59.0					12																	658990		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:658990C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.909C>T	12.37:g.658990C>T			Somatic					p.S303S	NM_173593.3	NP_775864.3	WXS	Illumina GAIIx	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		10	922	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		303					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.909C>T	CCDS8504.1																																																																																				0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		3	3	0	0	0	1	0	3	3				
SIRPA	140885	broad.mit.edu	37	20	1902132	1902132	+	Silent	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - coding silent(1)	p.S176S(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(526-528)tcA>tcT		signal-regulatory protein alpha							70.0	67.0	68.0					20																	1902132		2203	4297	6500	SO:0001819	synonymous_variant	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902132A>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.528A>T	20.37:g.1902132A>T			Somatic				SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S	p.S176S	NM_001040023.1	NP_001035112.1	WXS	Illumina GAIIx	Phase_I	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	680	+			176			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	c.528A>T	CCDS13022.1																																																																																				0.582	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	52	0	0	0	1	0	4	52				
CD1C	911	broad.mit.edu	37	1	158260923	158260923	+	Splice_Site	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:158260923G>A	ENST00000368170.3	+	2	340		c.e2-1			NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule						antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCCACCAAAAGCATCCCAGGA	0.468																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.e2-1		CD1c molecule							53.0	47.0	49.0					1																	158260923		2203	4300	6503	SO:0001630	splice_region_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158260923G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.62-1G>A	1.37:g.158260923G>A			Somatic						NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	P29017	CD1C_HUMAN			2	340	+	all_hematologic(112;0.0378)							Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Splice_Site	SNP	ENST00000368170.3	37		CCDS1175.1	.	.	.	.	.	.	.	.	.	.	G	3.166	-0.170988	0.06421	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	.	.	.	3.32	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0955	0.09988	0.1466:0.2382:0.6152:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD1C	156527547	0.146000	0.22672	0.000000	0.03702	0.001000	0.01503	1.212000	0.32394	0.346000	0.23899	0.650000	0.86243	.		0.468	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765	Intron	3	133	0	0	0	1	0	3	133				
AADAT	51166	broad.mit.edu	37	4	170991760	170991760	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:170991760T>C	ENST00000337664.4	-	6	974	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	AADAT_ENST00000353187.2_Missense_Mutation_p.Y233C|AADAT_ENST00000515480.1_Missense_Mutation_p.Y233C|AADAT_ENST00000509167.1_Missense_Mutation_p.Y237C	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	233					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		GAGAAAATAGTAAGGATCATC	0.279																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(697-699)tAc>tGc		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						62.0	68.0	66.0					4																	170991760		2201	4290	6491	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170991760T>C	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.698A>G	4.37:g.170991760T>C	ENSP00000336808:p.Tyr233Cys		Somatic				AADAT_ENST00000353187.2_Missense_Mutation_p.Y233C|AADAT_ENST00000515480.1_Missense_Mutation_p.Y233C|AADAT_ENST00000509167.1_Missense_Mutation_p.Y237C	p.Y233C	NM_016228.3	NP_057312.1	WXS	Illumina GAIIx	Phase_I	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	6	974	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	233					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.698A>G	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115394	0.77323	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.23	5.23	0.72850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.95437	3.67	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99787	1.1030	10	0.87932	D	0	-15.446	15.4161	0.74970	0.0:0.0:0.0:1.0	.	237;233	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	C	233;233;237;233	ENSP00000336808:Y233C;ENSP00000423341:Y233C;ENSP00000423190:Y237C;ENSP00000226840:Y233C	ENSP00000336808:Y233C	Y	-	2	0	AADAT	171228335	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.005000	0.76323	2.112000	0.64535	0.533000	0.62120	TAC		0.279	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		4	58	0	0	0	1	0	4	58				
ITK	3702	broad.mit.edu	37	5	156650008	156650008	+	Missense_Mutation	SNP	G	G	C	rs142038079		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:156650008G>C	ENST00000422843.3	+	6	783	c.631G>C	c.(631-633)Gtc>Ctc	p.V211L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	211	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTGGTGGAGAGTCCAGGACAG	0.498			T	SYK	peripheral T-cell lymphoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		20515	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(631-633)Gtc>Ctc		IL2-inducible T-cell kinase		G	LEU/VAL	9,4397	15.5+/-35.6	0,9,2194	138.0	132.0	134.0		631	4.8	1.0	5	dbSNP_134	134	0,8600		0,0,4300	yes	missense	ITK	NM_005546.3	32	0,9,6494	CC,CG,GG		0.0,0.2043,0.0692	benign	211/621	156650008	9,12997	2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156650008G>C	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.631G>C	5.37:g.156650008G>C	ENSP00000398655:p.Val211Leu		Somatic				CTB-4E7.1_ENST00000519375.1_RNA	p.V211L	NM_005546.3	NP_005537.3	WXS	Illumina GAIIx	Phase_I	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	783	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	211			SH3.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.631G>C	CCDS4336.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.4	3.990697	0.74589	0.002043	0.0	ENSG00000113263	ENST00000422843	T	0.20200	2.09	5.71	4.84	0.62591	Src homology-3 domain (4);	0.059121	0.64402	D	0.000002	T	0.32102	0.0818	M	0.82132	2.575	0.52099	D	0.999948	P	0.47604	0.898	P	0.45167	0.472	T	0.20009	-1.0288	10	0.56958	D	0.05	.	11.9077	0.52721	0.0815:0.0:0.9185:0.0	.	211	Q08881	ITK_HUMAN	L	211	ENSP00000398655:V211L	ENSP00000398655:V211L	V	+	1	0	ITK	156582586	1.000000	0.71417	0.971000	0.41717	0.955000	0.61496	3.617000	0.54181	1.419000	0.47118	-0.229000	0.12294	GTC		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			8	116	0	0	0	1	0	8	116				
ALOXE3	59344	broad.mit.edu	37	17	8000098	8000098	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:8000098C>T	ENST00000448843.2	-	16	2323	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	ALOXE3_ENST00000318227.3_Silent_p.E793E|ALOXE3_ENST00000380149.1_Silent_p.E817E	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	661	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTGTGAAGTGCTCATCTGGGT	0.607																																						ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(2449-2451)gaG>gaA		arachidonate lipoxygenase 3							53.0	54.0	53.0					17																	8000098		2203	4300	6503	SO:0001819	synonymous_variant	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8000098C>T	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1983G>A	17.37:g.8000098C>T			Somatic				ALOXE3_ENST00000318227.3_Silent_p.E793E|ALOXE3_ENST00000448843.2_Silent_p.E661E	p.E817E			WXS	Illumina GAIIx	Phase_I	Q9BYJ1	LOXE3_HUMAN			15	2481	-			661					B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Silent	SNP	ENST00000448843.2	37	c.2451G>A	CCDS11130.1																																																																																				0.607	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			31	124	0	0	0	1	0	31	124				
SLFN5	162394	broad.mit.edu	37	17	33591512	33591512	+	Silent	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:33591512C>A	ENST00000299977.4	+	4	1597	c.1449C>A	c.(1447-1449)ggC>ggA	p.G483G	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	483					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAAAGGCGGCTACACTGGGA	0.453																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1447-1449)ggC>ggA		schlafen family member 5							120.0	111.0	114.0					17																	33591512		2203	4300	6503	SO:0001819	synonymous_variant	162394				cell differentiation		ATP binding	g.chr17:33591512C>A	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1449C>A	17.37:g.33591512C>A			Somatic				SLFN5_ENST00000542451.1_Intron	p.G483G	NM_144975.3	NP_659412.3	WXS	Illumina GAIIx	Phase_I	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1597	+		Ovarian(249;0.17)	483					Q08AF2|Q8WU54|Q96A82	Silent	SNP	ENST00000299977.4	37	c.1449C>A	CCDS32619.1																																																																																				0.453	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		3	109	1	0	0.115264	1	0.121059	3	109				
SLC5A6	8884	broad.mit.edu	37	2	27429383	27429383	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:27429383A>T	ENST00000310574.3	-	5	952	c.479T>A	c.(478-480)gTg>gAg	p.V160E	SLC5A6_ENST00000408041.1_Missense_Mutation_p.V160E	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	160					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGCATAGAGCACAACTCCCAT	0.532																																						ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(478-480)gTg>gAg		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)						113.0	102.0	105.0					2																	27429383		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27429383A>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.479T>A	2.37:g.27429383A>T	ENSP00000310208:p.Val160Glu		Somatic				SLC5A6_ENST00000408041.1_Missense_Mutation_p.V160E	p.V160E	NM_021095.2	NP_066918.2	WXS	Illumina GAIIx	Phase_I	Q9Y289	SC5A6_HUMAN			5	952	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		160					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.479T>A	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085168	0.76642	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471	D;D;D	0.86769	-2.17;-2.17;-2.17	5.94	4.79	0.61399	.	0.062734	0.64402	D	0.000006	D	0.93802	0.8018	M	0.93062	3.375	0.53005	D	0.999961	D	0.53885	0.963	D	0.65010	0.931	D	0.93720	0.7032	10	0.72032	D	0.01	.	9.491	0.38960	0.9156:0.0:0.0844:0.0	.	160	Q9Y289	SC5A6_HUMAN	E	160	ENSP00000310208:V160E;ENSP00000384853:V160E;ENSP00000403851:V160E	ENSP00000310208:V160E	V	-	2	0	SLC5A6	27282887	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	5.760000	0.68793	1.086000	0.41228	0.460000	0.39030	GTG		0.532	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		19	68	0	0	0	1	0	19	68				
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C	rs562448650	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000400569.3_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532													T|||	3	0.000599042	0.0008	0.0014	5008	,	,		15502	0.0		0.0	False		,,,				2504	0.001					ENST00000356443.4																			1	Substitution - coding silent(1)	p.T203T(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(607-609)acA>acG		myomesin 1							299.0	284.0	289.0					18																	3188908		2069	4192	6261	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188908T>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.609A>G	18.37:g.3188908T>C			Somatic				MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T	p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			4	942	-			203			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.609A>G	CCDS45824.1																																																																																				0.532	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	208	0	0	0	1	0	4	208				
TDRD6	221400	broad.mit.edu	37	6	46658406	46658406	+	Silent	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:46658406C>G	ENST00000316081.6	+	1	2541	c.2541C>G	c.(2539-2541)gtC>gtG	p.V847V	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.V847V	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	847	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGAGCATGTCAATGTAACAT	0.398																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2539-2541)gtC>gtG		tudor domain containing 6							108.0	109.0	109.0					6																	46658406		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658406C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2541C>G	6.37:g.46658406C>G			Somatic				TDRD6_ENST00000316081.6_Silent_p.V847V	p.V847V	NM_001168359.1	NP_001161831.1	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2795	+			847			Tudor 4.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.2541C>G	CCDS34470.1																																																																																				0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		22	99	0	0	0	1	0	22	99				
FLG	2312	broad.mit.edu	37	1	152285496	152285496	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152285496G>A	ENST00000368799.1	-	3	1901	c.1866C>T	c.(1864-1866)agC>agT	p.S622S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	622	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGTCCTGGCTAACACTGG	0.547									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1864-1866)agC>agT		filaggrin							258.0	256.0	256.0					1																	152285496		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285496G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1866C>T	1.37:g.152285496G>A			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S622S	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1901	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		622			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.1866C>T	CCDS30860.1																																																																																				0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		4	204	0	0	0	1	0	4	204				
GRIP1	23426	broad.mit.edu	37	12	66838418	66838418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:66838418G>A	ENST00000398016.3	-	12	1545	c.1477C>T	c.(1477-1479)Cga>Tga	p.R493*	GRIP1_ENST00000286445.7_Nonsense_Mutation_p.R545*|GRIP1_ENST00000359742.4_Nonsense_Mutation_p.R545*	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	244					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAAGAGTCTCGGAGGAGCTGA	0.453																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1633-1635)Cga>Tga		glutamate receptor interacting protein 1							119.0	120.0	120.0					12																	66838418		1956	4140	6096	SO:0001587	stop_gained	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66838418G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1477C>T	12.37:g.66838418G>A	ENSP00000381098:p.Arg493*		Somatic				GRIP1_ENST00000286445.7_Nonsense_Mutation_p.R545*|GRIP1_ENST00000398016.3_Nonsense_Mutation_p.R493*	p.R545*			WXS	Illumina GAIIx	Phase_I	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	13	1873	-			545			PDZ 4.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Nonsense_Mutation	SNP	ENST00000398016.3	37	c.1633C>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	38	7.177335	0.98114	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.	.	.	5.61	3.73	0.42828	.	0.059599	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.4739	13.829	0.63368	0.0:0.0:0.4353:0.5647	.	.	.	.	X	493;545;545;493;437;385	.	.	R	-	1	2	GRIP1	65124685	0.979000	0.34478	1.000000	0.80357	0.989000	0.77384	1.045000	0.30341	0.674000	0.31244	0.544000	0.68410	CGA		0.453	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			3	136	0	0	0	1	0	3	136				
NLRP8	126205	broad.mit.edu	37	19	56473528	56473528	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:56473528G>C	ENST00000291971.3	+	4	2209	c.2138G>C	c.(2137-2139)aGt>aCt	p.S713T	NLRP8_ENST00000590542.1_Missense_Mutation_p.S713T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	713					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGACCAACAGTGTTTTGGGG	0.507																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2137-2139)aGt>aCt		NLR family, pyrin domain containing 8							189.0	158.0	168.0					19																	56473528		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56473528G>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2138G>C	19.37:g.56473528G>C	ENSP00000291971:p.Ser713Thr		Somatic				NLRP8_ENST00000590542.1_Missense_Mutation_p.S713T	p.S713T	NM_176811.2	NP_789781.2	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	4	2209	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	713					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2138G>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	4.052	0.007423	0.07866	.	.	ENSG00000179709	ENST00000291971	T	0.52983	0.64	1.93	-2.18	0.07037	.	.	.	.	.	T	0.34774	0.0909	L	0.35542	1.07	0.09310	N	1	B;P	0.41524	0.196;0.753	B;P	0.46885	0.222;0.53	T	0.20974	-1.0259	9	0.35671	T	0.21	.	0.6746	0.00864	0.1743:0.2629:0.3333:0.2295	.	713;713	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	713	ENSP00000291971:S713T	ENSP00000291971:S713T	S	+	2	0	NLRP8	61165340	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.248000	0.18198	-0.431000	0.07307	0.508000	0.49915	AGT		0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		56	123	0	0	0	1	0	56	123				
PKD2	5311	broad.mit.edu	37	4	88983083	88983083	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:88983083A>T	ENST00000508588.1	+	5	694	c.299A>T	c.(298-300)gAt>gTt	p.D100V	PKD2_ENST00000237596.2_Missense_Mutation_p.D682V|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.D100V			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATCATCAATGATACTTACTCT	0.323																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2044-2046)gAt>gTt		polycystic kidney disease 2 (autosomal dominant)							96.0	99.0	98.0					4																	88983083		2203	4299	6502	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88983083A>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.299A>T	4.37:g.88983083A>T	ENSP00000427131:p.Asp100Val		Somatic				PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.D100V|PKD2_ENST00000502363.1_Missense_Mutation_p.D100V	p.D682V	NM_000297.3	NP_000288.1	WXS	Illumina GAIIx	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	10	2111	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	682					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2045A>T		.	.	.	.	.	.	.	.	.	.	A	24.9	4.583499	0.86748	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.72505	-0.66;-0.66;-0.66	5.65	5.65	0.86999	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83799	0.0235	10	0.54805	T	0.06	-23.5889	15.8732	0.79141	1.0:0.0:0.0:0.0	.	682	Q13563	PKD2_HUMAN	V	682;100;100	ENSP00000237596:D682V;ENSP00000427131:D100V;ENSP00000425289:D100V	ENSP00000237596:D682V	D	+	2	0	PKD2	89202107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.107000	0.94261	2.146000	0.66826	0.528000	0.53228	GAT		0.323	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		5	120	0	0	0	1	0	5	120				
ZNF79	7633	broad.mit.edu	37	9	130206485	130206485	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:130206485C>T	ENST00000342483.5	+	5	912	c.506C>T	c.(505-507)cCt>cTt	p.P169L	ZNF79_ENST00000543471.1_Missense_Mutation_p.P145L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	169					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAAGCGAGACCTCGCAAATGT	0.522																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(505-507)cCt>cTt		zinc finger protein 79							112.0	103.0	106.0					9																	130206485		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206485C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.506C>T	9.37:g.130206485C>T	ENSP00000362446:p.Pro169Leu		Somatic				ZNF79_ENST00000543471.1_Missense_Mutation_p.P145L	p.P169L	NM_007135.2	NP_009066.2	WXS	Illumina GAIIx	Phase_I	Q15937	ZNF79_HUMAN			5	912	+			169					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.506C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443072	0.12164	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.19806	2.12;2.12	3.77	0.627	0.17675	.	.	.	.	.	T	0.17619	0.0423	L	0.49126	1.545	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	9	0.37606	T	0.19	.	6.9892	0.24745	0.0:0.6368:0.0:0.3632	.	169	Q15937	ZNF79_HUMAN	L	169;145	ENSP00000362446:P169L;ENSP00000438418:P145L	ENSP00000362446:P169L	P	+	2	0	ZNF79	129246306	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	1.167000	0.31847	0.303000	0.22785	-0.136000	0.14681	CCT		0.522	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		49	137	0	0	0	1	0	49	137				
SEC62	7095	broad.mit.edu	37	3	169710808	169710808	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:169710808A>C	ENST00000337002.4	+	8	1215	c.1157A>C	c.(1156-1158)gAa>gCa	p.E386A	SEC62_ENST00000480708.1_Missense_Mutation_p.E386A	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	386					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GAGGAAGAGGAAAATGATGGA	0.368																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(1156-1158)gAa>gCa		SEC62 homolog (S. cerevisiae)							56.0	47.0	50.0					3																	169710808		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169710808A>C	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.1157A>C	3.37:g.169710808A>C	ENSP00000337688:p.Glu386Ala		Somatic				SEC62_ENST00000480708.1_Missense_Mutation_p.E386A	p.E386A	NM_003262.3	NP_003253.1	WXS	Illumina GAIIx	Phase_I	Q99442	SEC62_HUMAN			8	1215	+			386					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.1157A>C	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	A	1.599	-0.527095	0.04141	.	.	ENSG00000008952	ENST00000337002;ENST00000537426;ENST00000544081;ENST00000480708	T;T	0.27890	1.64;1.64	5.76	4.61	0.57282	.	0.339981	0.31381	N	0.007750	T	0.18551	0.0445	N	0.19112	0.55	0.27178	N	0.960732	B	0.06786	0.001	B	0.09377	0.004	T	0.13229	-1.0517	10	0.51188	T	0.08	-1.3175	6.8602	0.24062	0.7959:0.0:0.0706:0.1336	.	386	Q99442	SEC62_HUMAN	A	386;110;110;386	ENSP00000337688:E386A;ENSP00000420331:E386A	ENSP00000337688:E386A	E	+	2	0	SEC62	171193502	1.000000	0.71417	0.513000	0.27749	0.012000	0.07955	6.404000	0.73268	1.017000	0.39495	-0.353000	0.07706	GAA		0.368	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			3	68	0	0	0	1	0	3	68				
OGFOD2	79676	broad.mit.edu	37	12	123463114	123463114	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:123463114G>A	ENST00000228922.7	+	5	561	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G13R|ABCB9_ENST00000542678.1_Intron|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000397389.2_Missense_Mutation_p.G117R|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G13R|ARL6IP4_ENST00000454885.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	177							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GAACAACTACGGGGTGGGTGA	0.637																																						ENST00000397389.2																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(349-351)Ggg>Agg		2-oxoglutarate and iron-dependent oxygenase domain containing 2	Vitamin C(DB00126)						37.0	43.0	41.0					12																	123463114		2110	4232	6342	SO:0001583	missense	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463114G>A	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.529G>A	12.37:g.123463114G>A	ENSP00000228922:p.Gly177Arg		Somatic				OGFOD2_ENST00000538755.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G13R|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000228922.7_Missense_Mutation_p.G177R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G13R|RP11-197N18.2_ENST00000540866.2_RNA	p.G117R	NM_024623.1	NP_078899.1	WXS	Illumina GAIIx	Phase_I	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	6	1088	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		177					B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.349G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.277785	0.95459	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.91237	-2.81;0.89	5.06	5.06	0.68205	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96517	0.9383	10	0.87932	D	0	-52.1735	18.4497	0.90699	0.0:0.0:1.0:0.0	.	177;117	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	117;13;13;13;13;13;13;13;177;13	ENSP00000380544:G117R;ENSP00000228922:G177R	ENSP00000228922:G177R	G	+	1	0	OGFOD2	122029067	1.000000	0.71417	0.959000	0.39883	0.909000	0.53808	9.837000	0.99465	2.342000	0.79632	0.561000	0.74099	GGG		0.637	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		3	12	0	0	0	1	0	3	12				
KIAA1549L	25758	broad.mit.edu	37	11	33640144	33640144	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:33640144C>T	ENST00000321505.4	+	15	4634	c.4454C>T	c.(4453-4455)aCc>aTc	p.T1485I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1491I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1485						integral component of membrane (GO:0016021)											CCAGGGGAAACCGAGATGGAC	0.527																																						ENST00000321505.4																			0											c.(4453-4455)aCc>aTc		KIAA1549-like							33.0	34.0	34.0					11																	33640144		1874	4097	5971	SO:0001583	missense	25758							g.chr11:33640144C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4454C>T	11.37:g.33640144C>T	ENSP00000315295:p.Thr1485Ile		Somatic				KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1491I	p.T1485I			WXS	Illumina GAIIx	Phase_I					15	4634	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.4454C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008699	0.93346	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.3	5.3	0.74995	.	0.134270	0.47852	D	0.000209	T	0.77678	0.4166	L	0.60455	1.87	0.47065	D	0.999304	D	0.89917	1.0	D	0.91635	0.999	T	0.79019	-0.1974	9	0.72032	D	0.01	-16.5849	19.3095	0.94179	0.0:1.0:0.0:0.0	.	1491	E9PAT2	.	I	1485;1491;1324	.	ENSP00000315295:T1485I	T	+	2	0	C11orf41	33596720	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	7.445000	0.80570	2.624000	0.88883	0.561000	0.74099	ACC		0.527	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		8	21	0	0	0	1	0	8	21				
IDS	3423	broad.mit.edu	37	X	148564298	148564298	+	Silent	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:148564298A>C	ENST00000340855.6	-	9	1841	c.1632T>G	c.(1630-1632)ctT>ctG	p.L544L	IDS_ENST00000422081.2_Silent_p.L333L|IDS_ENST00000541269.1_Silent_p.L333L|IDS_ENST00000537071.1_Silent_p.L147L	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	544					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACAACTGGAAAAGATCTCCAC	0.448																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(1630-1632)ctT>ctG		iduronate 2-sulfatase							75.0	62.0	66.0					X																	148564298		2203	4300	6503	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148564298A>C	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1632T>G	X.37:g.148564298A>C			Somatic				IDS_ENST00000537071.1_Silent_p.L147L|IDS_ENST00000541269.1_Silent_p.L333L	p.L544L	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	WXS	Illumina GAIIx	Phase_I	P22304	IDS_HUMAN			9	1841	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		544					D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.1632T>G	CCDS14685.1																																																																																				0.448	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			28	79	0	0	0	1	0	28	79				
TENM2	57451	broad.mit.edu	37	5	167545329	167545329	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:167545329C>A	ENST00000518659.1	+	10	1885	c.1846C>A	c.(1846-1848)Caa>Aaa	p.Q616K	TENM2_ENST00000519204.1_Missense_Mutation_p.Q495K|TENM2_ENST00000403607.2_Missense_Mutation_p.Q449K|TENM2_ENST00000520394.1_Missense_Mutation_p.Q384K|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.Q616K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	616	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGGAATGGACAATATTCTAA	0.582																																						ENST00000519204.1																			0											c.(1483-1485)Caa>Aaa		teneurin transmembrane protein 2							150.0	150.0	150.0					5																	167545329		2149	4243	6392	SO:0001583	missense	57451							g.chr5:167545329C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1846C>A	5.37:g.167545329C>A	ENSP00000429430:p.Gln616Lys		Somatic				TENM2_ENST00000520394.1_Missense_Mutation_p.Q384K|TENM2_ENST00000518659.1_Missense_Mutation_p.Q616K|TENM2_ENST00000545108.1_Missense_Mutation_p.Q616K|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.Q449K	p.Q495K			WXS	Illumina GAIIx	Phase_I					9	1601	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1483C>A		.	.	.	.	.	.	.	.	.	.	C	19.26	3.793824	0.70452	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	4.61	4.61	0.57282	Epidermal growth factor-like, type 3 (1);	0.056040	0.64402	D	0.000001	T	0.10809	0.0264	L	0.35644	1.08	0.54753	D	0.999989	B;B;B	0.27971	0.196;0.018;0.065	B;B;B	0.25140	0.058;0.005;0.044	T	0.13953	-1.0490	10	0.28530	T	0.3	.	17.4529	0.87597	0.0:1.0:0.0:0.0	.	616;384;495	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	K	616;616;495;384;449	ENSP00000429430:Q616K;ENSP00000438635:Q616K;ENSP00000428964:Q495K;ENSP00000427874:Q384K;ENSP00000384905:Q449K	ENSP00000384905:Q449K	Q	+	1	0	ODZ2	167477907	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.104000	0.64026	0.563000	0.77884	CAA		0.582	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	469	1	0	1	1	1	5	469				
ESPL1	9700	broad.mit.edu	37	12	53683289	53683289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:53683289G>A	ENST00000257934.4	+	22	5115	c.5024G>A	c.(5023-5025)cGc>cAc	p.R1675H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1675H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1675					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGCATCCAGCGCCTCTTTTCC	0.597																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5023-5025)cGc>cAc		extra spindle pole bodies homolog 1 (S. cerevisiae)							51.0	53.0	52.0					12																	53683289		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53683289G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5024G>A	12.37:g.53683289G>A	ENSP00000257934:p.Arg1675His		Somatic				ESPL1_ENST00000552462.1_Missense_Mutation_p.R1675H	p.R1675H	NM_012291.4	NP_036423.4	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			22	5115	+			1675						Missense_Mutation	SNP	ENST00000257934.4	37	c.5024G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	5.472	0.272180	0.10349	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11930	2.73;2.73	5.26	-6.05	0.02172	.	0.925791	0.09368	N	0.811800	T	0.05502	0.0145	N	0.04880	-0.145	0.23984	N	0.996265	B	0.02656	0.0	B	0.01281	0.0	T	0.47182	-0.9137	10	0.09338	T	0.73	.	14.468	0.67497	0.785:0.0:0.215:0.0	.	1675	Q14674	ESPL1_HUMAN	H	1675;1350;1675	ENSP00000257934:R1675H;ENSP00000449831:R1675H	ENSP00000257934:R1675H	R	+	2	0	ESPL1	51969556	0.013000	0.17824	0.786000	0.31890	0.980000	0.70556	-0.801000	0.04550	-1.157000	0.02815	-0.471000	0.05019	CGC		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		16	49	0	0	0	1	0	16	49				
GALNT18	374378	broad.mit.edu	37	11	11400753	11400753	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:11400753G>T	ENST00000227756.4	-	4	1065	c.654C>A	c.(652-654)ggC>ggA	p.G218G		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	218	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CTTTGATGAAGCCTGGCTTCT	0.572																																						ENST00000227756.4																			0											c.(652-654)ggC>ggA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							166.0	135.0	146.0					11																	11400753		2201	4294	6495	SO:0001819	synonymous_variant	374378							g.chr11:11400753G>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.654C>A	11.37:g.11400753G>T			Somatic					p.G218G	NM_198516.2	NP_940918.2	WXS	Illumina GAIIx	Phase_I					4	1065	-								O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.654C>A	CCDS7807.1																																																																																				0.572	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		3	98	1	0	0.004672	1	0.00522819	3	98				
LINGO4	339398	broad.mit.edu	37	1	151775111	151775111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:151775111G>A	ENST00000368820.3	-	2	1007	c.70C>T	c.(70-72)Cct>Tct	p.P24S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	24						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCCTCCAGGTAGGAGGAGG	0.622																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(70-72)Cct>Tct		leucine rich repeat and Ig domain containing 4							12.0	11.0	11.0					1																	151775111		2172	4247	6419	SO:0001583	missense	339398					integral to membrane		g.chr1:151775111G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.70C>T	1.37:g.151775111G>A	ENSP00000357810:p.Pro24Ser		Somatic					p.P24S	NM_001004432.2	NP_001004432.1	WXS	Illumina GAIIx	Phase_I	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1007	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		24						Missense_Mutation	SNP	ENST00000368820.3	37	c.70C>T	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048771	0.36181	.	.	ENSG00000213171	ENST00000368820	T	0.59364	0.27	5.51	2.52	0.30459	.	0.297325	0.24561	N	0.037471	T	0.17238	0.0414	L	0.38175	1.15	0.27097	N	0.962714	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.06236	T	0.91	.	7.8136	0.29245	0.1617:0.1441:0.6942:0.0	.	24	Q6UY18	LIGO4_HUMAN	S	24	ENSP00000357810:P24S	ENSP00000357810:P24S	P	-	1	0	LINGO4	150041735	0.968000	0.33430	0.896000	0.35187	0.463000	0.32649	0.891000	0.28309	0.893000	0.36288	0.557000	0.71058	CCT		0.622	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		3	2	0	0	0	1	0	3	2				
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:42635213C>T	ENST00000358131.5	+	3	427	c.219C>T	c.(217-219)aaC>aaT	p.N73N	TOX2_ENST00000341197.4_Silent_p.N64N|TOX2_ENST00000423191.2_Silent_p.N22N|TOX2_ENST00000372999.1_Silent_p.N22N|RN7SL443P_ENST00000464331.2_RNA	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N73K(2)|p.N22K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGAACAACGAAGACTATG	0.557																																						ENST00000358131.5																			4	Substitution - Missense(4)	p.N73K(2)|p.N22K(2)	lung(4)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(217-219)aaC>aaT		TOX high mobility group box family member 2							179.0	147.0	158.0					20																	42635213		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635213C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.219C>T	20.37:g.42635213C>T			Somatic				TOX2_ENST00000372999.1_Silent_p.N22N|TOX2_ENST00000341197.3_Silent_p.N64N|TOX2_ENST00000423191.1_Silent_p.N22N	p.N73N	NM_001098798.1	NP_001092268.1	WXS	Illumina GAIIx	Phase_I	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	427	+		Myeloproliferative disorder(115;0.00452)	73					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.219C>T	CCDS42875.1																																																																																				0.557	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			8	232	0	0	0	1	0	8	232				
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:3119294C>A	ENST00000534507.1	+	6	854	c.643C>A	c.(643-645)Cca>Aca	p.P215T	IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000525643.2_Missense_Mutation_p.P169T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582																																						ENST00000525643.2																			1	Substitution - Missense(1)	p.P169T(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(505-507)Cca>Aca		interleukin 32							95.0	124.0	114.0					16																	3119294		2197	4300	6497	SO:0001583	missense	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119294C>A	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.643C>A	16.37:g.3119294C>A	ENSP00000431775:p.Pro215Thr		Somatic				IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T	p.P169T			WXS	Illumina GAIIx	Phase_I	P24001	IL32_HUMAN			7	837	+			215					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37	c.505C>A		.	.	.	.	.	.	.	.	.	.	C	4.454	0.084032	0.08583	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.42;0.44;0.42;0.4;0.42;0.42;0.42;0.42;0.4;0.42;0.44;0.42;0.43;0.42;0.42;0.43;0.44;0.42;0.42;0.4;0.44;0.44;0.42;0.43;0.44;0.42;0.42	1.71	-0.364	0.12553	.	.	.	.	.	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P;P;P;P;P;P;P	0.51449	0.833;0.938;0.938;0.833;0.833;0.938;0.945	B;B;B;B;B;B;P	0.56648	0.151;0.192;0.192;0.197;0.151;0.192;0.803	T	0.26710	-1.0095	9	0.87932	D	0	.	4.0362	0.09730	0.0:0.5866:0.0:0.4134	.	129;149;160;149;215;169;112	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	T	169;215;159;112;149;169;169;169;112;169;215;169;149;169;169;149;215;160;169;112;193;215;169;149;206;160;129	ENSP00000324742:P169T;ENSP00000431775:P215T;ENSP00000433177:P159T;ENSP00000380096:P112T;ENSP00000436937:P149T;ENSP00000450364:P169T;ENSP00000405063:P169T;ENSP00000437020:P169T;ENSP00000447496:P112T;ENSP00000432218:P169T;ENSP00000448354:P215T;ENSP00000432850:P169T;ENSP00000433747:P149T;ENSP00000411958:P169T;ENSP00000432917:P169T;ENSP00000008180:P149T;ENSP00000380099:P215T;ENSP00000446624:P160T;ENSP00000436929:P169T;ENSP00000447812:P112T;ENSP00000447033:P193T;ENSP00000449483:P215T;ENSP00000448683:P169T;ENSP00000446978:P149T;ENSP00000449147:P206T;ENSP00000371648:P160T;ENSP00000447979:P129T	ENSP00000008180:P149T	P	+	1	0	IL32	3059295	0.142000	0.22610	0.000000	0.03702	0.001000	0.01503	0.729000	0.26028	-0.050000	0.13356	0.543000	0.68304	CCA		0.582	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		3	68	1	0	5.9392e-07	1	7.1575e-07	3	68				
HADHB	3032	broad.mit.edu	37	2	26486289	26486289	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:26486289A>T	ENST00000317799.5	+	4	255	c.151A>T	c.(151-153)Ata>Tta	p.I51L	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.I51L|HADHB_ENST00000405867.3_Missense_Mutation_p.I51L|HADHB_ENST00000545822.1_Missense_Mutation_p.I29L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	51					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACCCAATATAAGGAATGT	0.338																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.(151-153)Ata>Tta		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							158.0	146.0	150.0					2																	26486289		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26486289A>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.151A>T	2.37:g.26486289A>T	ENSP00000325136:p.Ile51Leu		Somatic				HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.I51L|HADHB_ENST00000545822.1_Missense_Mutation_p.I29L|HADHB_ENST00000537713.1_Missense_Mutation_p.I51L	p.I51L	NM_000183.2	NP_000174.1	WXS	Illumina GAIIx	Phase_I	P55084	ECHB_HUMAN			4	255	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		51					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.151A>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957714	0.34565	.	.	ENSG00000138029	ENST00000448743;ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822;ENST00000425035;ENST00000412805	D;D;D;D;D;D;D	0.93307	-2.14;-2.14;-3.2;-2.14;-2.14;-2.14;-2.01	5.64	-11.3	0.00108	.	0.700616	0.14427	N	0.320273	T	0.81394	0.4813	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18461	0.0;0.0;0.028;0.0	B;B;B;B	0.24701	0.001;0.002;0.055;0.001	T	0.60596	-0.7232	10	0.13853	T	0.58	-0.3277	17.3543	0.87331	0.0951:0.247:0.6579:0.0	.	51;29;51;51	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	L	51;51;51;51;29;51;51	ENSP00000415300:I51L;ENSP00000325136:I51L;ENSP00000385411:I51L;ENSP00000444295:I51L;ENSP00000442665:I29L;ENSP00000404633:I51L;ENSP00000413103:I51L	ENSP00000325136:I51L	I	+	1	0	HADHB	26339793	0.004000	0.15560	0.000000	0.03702	0.982000	0.71751	-0.606000	0.05654	-3.414000	0.00168	-0.334000	0.08254	ATA		0.338	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		62	75	0	0	0	1	0	62	75				
VHL	7428	broad.mit.edu	37	3	10188198	10188198	+	Splice_Site	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:10188198G>C	ENST00000256474.2	+	2	1181	c.341G>C	c.(340-342)gGt>gCt	p.G114A	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	114	Involved in binding to CCT complex.		G -> C (in VHLD; type II). {ECO:0000269|PubMed:8956040}.|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G114A(4)|p.?(3)|p.G114D(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCCCGATAGGTCACCTTTGG	0.537		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		8	Substitution - Missense(5)|Unknown(3)	p.G114A(4)|p.?(3)|p.G114D(1)	kidney(7)|upper_aerodigestive_tract(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CI065860	VHL	I		c.e2-1		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							165.0	153.0	157.0					3																	10188198		2203	4300	6503	SO:0001630	splice_region_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188198G>C	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1G>C	3.37:g.10188198G>C			Somatic				VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	p.G114_splice	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1181	+			114		G -> C (in VHLD; type II).|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	c.340_splice	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271154	0.40194	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99849	-7.15	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97588	1.0115	9	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	114	P40337	VHL_HUMAN	A	114;32	ENSP00000256474:G114A	.	G	+	2	0	VHL	10163198	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	4.362000	0.59467	2.530000	0.85305	0.563000	0.77884	GGT		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Missense_Mutation	52	55	0	0	0	1	0	52	55				
RTN4	57142	broad.mit.edu	37	2	55214633	55214633	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:55214633G>A	ENST00000337526.6	-	4	3458	c.3215C>T	c.(3214-3216)cCa>cTa	p.P1072L	RTN4_ENST00000354474.6_Missense_Mutation_p.P840L|RTN4_ENST00000394611.2_Missense_Mutation_p.P866L|RTN4_ENST00000405240.1_Missense_Mutation_p.P866L|RTN4_ENST00000402434.2_Missense_Mutation_p.P225L|RTN4_ENST00000317610.7_Missense_Mutation_p.P253L|RTN4_ENST00000357732.4_Missense_Mutation_p.P272L|RTN4_ENST00000404909.1_Missense_Mutation_p.P866L|RTN4_ENST00000394609.2_Missense_Mutation_p.P79L|RTN4_ENST00000357376.3_Missense_Mutation_p.P866L|RTN4_ENST00000486085.1_5'UTR	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1072	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCACCTGAATGGGTGGCCTTC	0.443																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(3214-3216)cCa>cTa		reticulon 4							143.0	121.0	129.0					2																	55214633		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55214633G>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3215C>T	2.37:g.55214633G>A	ENSP00000337838:p.Pro1072Leu		Somatic				RTN4_ENST00000357732.4_Missense_Mutation_p.P272L|RTN4_ENST00000357376.3_Missense_Mutation_p.P866L|RTN4_ENST00000354474.6_Missense_Mutation_p.P840L|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000404909.1_Missense_Mutation_p.P866L|RTN4_ENST00000405240.1_Missense_Mutation_p.P866L|RTN4_ENST00000317610.7_Missense_Mutation_p.P253L|RTN4_ENST00000402434.2_Missense_Mutation_p.P225L|RTN4_ENST00000394609.2_Missense_Mutation_p.P79L|RTN4_ENST00000394611.2_Missense_Mutation_p.P866L	p.P1072L	NM_020532.4	NP_065393.1	WXS	Illumina GAIIx	Phase_I	Q9NQC3	RTN4_HUMAN			4	3458	-			1072			Reticulon.		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.3215C>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114385	0.94339	.	.	ENSG00000115310	ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83872	0.0274	10	0.87932	D	0	-11.141	19.6411	0.95758	0.0:0.0:1.0:0.0	.	253;272;1072;79	Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.;.;RTN4_HUMAN;.	L	79;866;866;1072;253;272;866;866;225;840	ENSP00000378107:P79L;ENSP00000384471:P866L;ENSP00000349944:P866L;ENSP00000337838:P1072L;ENSP00000322147:P253L;ENSP00000350365:P272L;ENSP00000378109:P866L;ENSP00000385650:P866L;ENSP00000384825:P225L;ENSP00000346465:P840L	ENSP00000322147:P253L	P	-	2	0	RTN4	55068137	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.637000	0.89404	0.650000	0.86243	CCA		0.443	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			31	119	0	0	0	1	0	31	119				
SPAM1	6677	broad.mit.edu	37	7	123599588	123599588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:123599588C>A	ENST00000439500.1	+	6	1708	c.1095C>A	c.(1093-1095)taC>taA	p.Y365*	SPAM1_ENST00000460182.1_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000402183.2_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000340011.5_Nonsense_Mutation_p.Y365*	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	365					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAATCCTTACATAATCAACG	0.373																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1093-1095)taC>taA		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						94.0	86.0	89.0					7																	123599588		2203	4300	6503	SO:0001587	stop_gained	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599588C>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1095C>A	7.37:g.123599588C>A	ENSP00000402123:p.Tyr365*		Somatic				SPAM1_ENST00000460182.1_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000402183.2_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000439500.1_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.Y365*	p.Y365*	NM_003117.4	NP_003108.2	WXS	Illumina GAIIx	Phase_I	P38567	HYALP_HUMAN			5	1452	+			365					Q8TC30	Nonsense_Mutation	SNP	ENST00000439500.1	37	c.1095C>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092384	0.94149	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	.	.	.	5.87	1.95	0.26073	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.5066	9.1875	0.37178	0.0:0.6917:0.0:0.3083	.	.	.	.	X	365	.	ENSP00000223028:Y365X	Y	+	3	2	SPAM1	123386824	0.057000	0.20700	0.283000	0.24790	0.029000	0.11900	0.474000	0.22148	0.139000	0.18822	-0.137000	0.14449	TAC		0.373	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			3	104	1	0	0.115264	1	0.121059	3	104				
FAM41C	284593	broad.mit.edu	37	1	809721	809721	+	lincRNA	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:809721G>A	ENST00000446136.1	-	0	972					NR_027055.1				family with sequence similarity 41, member C																		TGAGGAGGAGGTGGCCTAGAA	0.488																																						ENST00000446136.1																			0																																																			284593							g.chr1:809721G>A	BC047940		1p36.33	2013-01-16	2011-08-31	2011-08-31	ENSG00000230368	ENSG00000230368		"""Long non-coding RNAs"""	27635	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_027055		Approved		uc001abt.4		OTTHUMG00000002469		1.37:g.809721G>A			Somatic						NR_027055.1		WXS	Illumina GAIIx	Phase_I					0	972	-									RNA	SNP	ENST00000446136.1	37																																																																																						0.488	FAM41C-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007021.1	NR_027055		4	23	0	0	0	1	0	4	23				
LIPE	3991	broad.mit.edu	37	19	42930774	42930774	+	Silent	SNP	C	C	T	rs372514471		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:42930774C>T	ENST00000244289.4	-	1	804	c.528G>A	c.(526-528)acG>acA	p.T176T	CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	176					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTCTTGGGACGTAGATTCAG	0.532																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(526-528)acG>acA		lipase, hormone-sensitive		C		0,4406		0,0,2203	107.0	103.0	105.0		528	-4.8	0.0	19		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LIPE	NM_005357.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		176/1077	42930774	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930774C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.528G>A	19.37:g.42930774C>T			Somatic				LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	p.T176T	NM_005357.2	NP_005348.2	WXS	Illumina GAIIx	Phase_I	Q05469	LIPS_HUMAN			1	804	-		Prostate(69;0.00682)	176					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.528G>A	CCDS12607.1																																																																																				0.532	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		12	226	0	0	0	1	0	12	226				
ZNF510	22869	broad.mit.edu	37	9	99521470	99521470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:99521470C>A	ENST00000375231.1	-	6	2292	c.1642G>T	c.(1642-1644)Gaa>Taa	p.E548*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.E548*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	548					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)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTTTCACATTCATTACACTGG	0.383																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1642-1644)Gaa>Taa		zinc finger protein 510							125.0	127.0	126.0					9																	99521470		2203	4300	6503	SO:0001587	stop_gained	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521470C>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1642G>T	9.37:g.99521470C>A	ENSP00000364379:p.Glu548*		Somatic				ZNF510_ENST00000223428.4_Nonsense_Mutation_p.E548*	p.E548*			WXS	Illumina GAIIx	Phase_I	Q9Y2H8	ZN510_HUMAN			6	2292	-		Acute lymphoblastic leukemia(62;0.0527)	548					Q5SZP5	Nonsense_Mutation	SNP	ENST00000375231.1	37	c.1642G>T	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	C	40	8.392849	0.98791	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	3.02	0.0738	0.14392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.6415	0.12550	0.0:0.5897:0.1866:0.2237	.	.	.	.	X	548	.	ENSP00000223428:E548X	E	-	1	0	ZNF510	98561291	0.000000	0.05858	0.024000	0.17045	0.761000	0.43186	-0.036000	0.12185	0.004000	0.14682	0.655000	0.94253	GAA		0.383	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		5	217	1	0	0.014758	1	0.0159454	5	217				
SLCO1C1	53919	broad.mit.edu	37	12	20874921	20874921	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:20874921A>G	ENST00000266509.2	+	8	1327	c.959A>G	c.(958-960)gAt>gGt	p.D320G	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202G|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D320G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	320					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTTATTATAGATGATCACACA	0.358																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(958-960)gAt>gGt		solute carrier organic anion transporter family, member 1C1							54.0	56.0	56.0					12																	20874921		2202	4300	6502	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874921A>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.959A>G	12.37:g.20874921A>G	ENSP00000266509:p.Asp320Gly		Somatic				SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320G|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D320G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202G	p.D320G			WXS	Illumina GAIIx	Phase_I	Q9NYB5	SO1C1_HUMAN			8	1327	+	Esophageal squamous(101;0.149)		320					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.959A>G	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738499	0.30774	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.52	3.37	0.38596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.887861	0.10067	N	0.720179	T	0.30262	0.0759	N	0.21448	0.665	0.24271	N	0.995242	B;B;B;B	0.13145	0.007;0.002;0.003;0.001	B;B;B;B	0.20384	0.029;0.003;0.008;0.001	T	0.23583	-1.0184	10	0.30854	T	0.27	.	10.0744	0.42351	0.92:0.0:0.08:0.0	.	202;271;320;320	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	G	320;271;320;320;202	ENSP00000444149:D320G;ENSP00000438665:D271G;ENSP00000266509:D320G;ENSP00000370964:D320G;ENSP00000444527:D202G	ENSP00000266509:D320G	D	+	2	0	SLCO1C1	20766188	1.000000	0.71417	0.760000	0.31359	0.859000	0.49053	3.844000	0.55873	0.866000	0.35629	0.460000	0.39030	GAT		0.358	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		7	36	0	0	0	1	0	7	36				
RNASEH1	246243	broad.mit.edu	37	2	3604393	3604393	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:3604393G>A	ENST00000315212.3	-	2	585	c.230C>T	c.(229-231)cCg>cTg	p.P77L	AC108488.3_ENST00000426725.1_RNA|AC108488.3_ENST00000438436.1_RNA	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	77					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.P77Q(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGAAACTTCCGGGCTTGCAGA	0.463																																						ENST00000315212.3																			1	Substitution - Missense(1)	p.P77Q(1)	lung(1)	endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13						c.(229-231)cCg>cTg		ribonuclease H1							67.0	64.0	65.0					2																	3604393		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3604393G>A	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.230C>T	2.37:g.3604393G>A	ENSP00000313350:p.Pro77Leu		Somatic					p.P77L	NM_002936.3	NP_002927.2	WXS	Illumina GAIIx	Phase_I	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	2	585	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		77					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.230C>T	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112366	0.20795	.	.	ENSG00000171865	ENST00000315212	T	0.48522	0.81	4.71	3.83	0.44106	.	0.235594	0.43919	N	0.000503	T	0.28499	0.0705	N	0.17082	0.46	0.44736	D	0.997736	B	0.15473	0.013	B	0.06405	0.002	T	0.06698	-1.0812	10	0.27082	T	0.32	-46.1639	9.0886	0.36596	0.0998:0.0:0.9002:0.0	.	77	O60930	RNH1_HUMAN	L	77	ENSP00000313350:P77L	ENSP00000313350:P77L	P	-	2	0	RNASEH1	3582268	0.979000	0.34478	0.771000	0.31576	0.263000	0.26337	1.765000	0.38481	1.341000	0.45600	0.655000	0.94253	CCG		0.463	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			4	19	0	0	0	1	0	4	19				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr		Somatic					p.A99T	NM_003631.2	NP_003622.2	WXS	Illumina GAIIx	Phase_I	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	82	0	0	0	1	0	3	82				
DNAH17	8632	broad.mit.edu	37	17	76475152	76475152	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:76475152C>G	ENST00000585328.1	-	51	8056	c.7932G>C	c.(7930-7932)aaG>aaC	p.K2644N	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.K2635N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2635	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAATGAAACTTAATGGCCG	0.458																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7903-7905)aaG>aaC		dynein, axonemal, heavy chain 17							133.0	129.0	130.0					17																	76475152		1879	4122	6001	SO:0001583	missense	8632							g.chr17:76475152C>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7932G>C	17.37:g.76475152C>G	ENSP00000465516:p.Lys2644Asn		Somatic				DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.K2644N	p.K2635N			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		51	8029	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.7905G>C		.	.	.	.	.	.	.	.	.	.	C	12.09	1.832881	0.32421	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.49139	0.79	4.82	2.76	0.32466	.	.	.	.	.	T	0.65281	0.2676	M	0.89095	3.005	0.35296	D	0.782615	.	.	.	.	.	.	T	0.73886	-0.3841	7	0.87932	D	0	.	8.9281	0.35652	0.0:0.7461:0.0:0.2539	.	.	.	.	N	2644;2635	ENSP00000374490:K2635N	ENSP00000300671:K2644N	K	-	3	2	DNAH17	73986747	0.966000	0.33281	0.998000	0.56505	0.005000	0.04900	0.165000	0.16564	0.415000	0.25817	-0.358000	0.07595	AAG		0.458	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	25	0	0	0	1	0	4	25				
PPP1R12B	4660	broad.mit.edu	37	1	202398007	202398007	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:202398007G>T	ENST00000608999.1	+	6	1024	c.871G>T	c.(871-873)Gat>Tat	p.D291Y	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.D291Y	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	291					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGATGTGGCTGATGAGGGTCT	0.433																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(871-873)Gat>Tat		protein phosphatase 1, regulatory subunit 12B							88.0	83.0	85.0					1																	202398007		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202398007G>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.871G>T	1.37:g.202398007G>T	ENSP00000476755:p.Asp291Tyr		Somatic				PPP1R12B_ENST00000356764.2_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.D291Y	p.D291Y	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	WXS	Illumina GAIIx	Phase_I	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	1024	+			291					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.871G>T	CCDS1426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.862863|4.862863	0.91511|0.91511	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764|ENST00000466968	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Ankyrin repeat-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000011|.	D|.	0.82779|.	0.5111|.	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.995;0.999;0.999;0.994|.	T|.	0.83227|.	-0.0065|.	10|.	0.87932|.	D|.	0|.	.|.	19.7586|19.7586	0.96304|0.96304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	291;291;291;291|.	O60237-2;O60237;F8W8M3;Q2TAI8|.	.;MYPT2_HUMAN;.;.|.	Y|L	291|86	ENSP00000384496:D291Y;ENSP00000337897:D291Y;ENSP00000417159:D291Y;ENSP00000349206:D291Y|.	ENSP00000337897:D291Y|.	D|X	+|+	1|2	0|2	PPP1R12B|PPP1R12B	200664630|200664630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.617000|9.617000	0.98361|0.98361	2.663000|2.663000	0.90544|0.90544	0.585000|0.585000	0.79938|0.79938	GAT|TGA		0.433	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		24	39	1	0	3.99451e-17	1	5.14361e-17	24	39				
COBL	23242	broad.mit.edu	37	7	51096418	51096418	+	Missense_Mutation	SNP	G	G	A	rs150697717	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:51096418G>A	ENST00000265136.7	-	10	2540	c.2375C>T	c.(2374-2376)cCc>cTc	p.P792L	COBL_ENST00000395542.2_Missense_Mutation_p.P874L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	792					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGTGGAGGGGGGTCCCCT	0.602																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2620-2622)cCc>cTc		cordon-bleu WH2 repeat protein		G	LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	39.0	45.0	43.0		2375	4.6	0.0	7	dbSNP_134	43	0,8600		0,0,4300	yes	missense	COBL	NM_015198.3	98	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	792/1262	51096418	5,13001	2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096418G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2375C>T	7.37:g.51096418G>A	ENSP00000265136:p.Pro792Leu		Somatic				COBL_ENST00000265136.7_Missense_Mutation_p.P792L	p.P874L			WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			12	2805	-	Glioma(55;0.08)		792					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2621C>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.502|5.502	0.277604|0.277604	0.10403|0.10403	0.001135|0.001135	0.0|0.0	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000457306	T;T;T;T|.	0.13420|.	2.61;2.6;2.6;2.59|.	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	1.805370|1.805370	0.03372|0.03372	N|N	0.199094|0.199094	T|T	0.59280|0.59280	0.2182|0.2182	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.28128|.	0.039;0.0;0.201;0.001;0.01|.	B;B;B;B;B|.	0.21360|.	0.034;0.002;0.034;0.002;0.004|.	T|T	0.56968|0.56968	-0.7891|-0.7891	10|7	0.46703|0.87932	T|D	0.11|0	.|.	14.9158|14.9158	0.70795|0.70795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	792;849;792;874;334|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	L|S	792;684;677;874|238	ENSP00000265136:P792L;ENSP00000401204:P684L;ENSP00000413498:P677L;ENSP00000378912:P874L|.	ENSP00000265136:P792L|ENSP00000397300:P238S	P|P	-|-	2|1	0|0	COBL|COBL	51063912|51063912	0.258000|0.258000	0.24033|0.24033	0.022000|0.022000	0.16811|0.16811	0.010000|0.010000	0.07245|0.07245	1.698000|1.698000	0.37794|0.37794	2.374000|2.374000	0.81015|0.81015	0.467000|0.467000	0.42956|0.42956	CCC|CCT		0.602	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		4	32	0	0	0	1	0	4	32				
ADD2	119	broad.mit.edu	37	2	70919544	70919544	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:70919544G>T	ENST00000264436.4	-	7	1140	c.696C>A	c.(694-696)gcC>gcA	p.A232A	ADD2_ENST00000413157.2_Silent_p.A232A|ADD2_ENST00000430656.1_Silent_p.A248A|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000407644.2_Silent_p.A232A|ADD2_ENST00000355733.3_Silent_p.A232A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	232					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCGCTGCTGTGGCCGGTGTGT	0.577																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(694-696)gcC>gcA		adducin 2 (beta)							53.0	50.0	51.0					2																	70919544		2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70919544G>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.696C>A	2.37:g.70919544G>T			Somatic				ADD2_ENST00000355733.3_Silent_p.A232A|ADD2_ENST00000413157.2_Silent_p.A232A|ADD2_ENST00000430656.1_Silent_p.A248A|ADD2_ENST00000407644.2_Silent_p.A232A	p.A232A	NM_001617.3	NP_001608.1	WXS	Illumina GAIIx	Phase_I	P35612	ADDB_HUMAN			7	1140	-			232					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.696C>A	CCDS1906.1																																																																																				0.577	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		7	88	1	0	3.09899e-07	1	3.75877e-07	7	88				
LRP2	4036	broad.mit.edu	37	2	170135904	170135904	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:170135904T>G	ENST00000263816.3	-	12	1828	c.1543A>C	c.(1543-1545)Att>Ctt	p.I515L	LRP2_ENST00000443831.1_Missense_Mutation_p.I515L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	515					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCACGGCAATTCCTCTAGGA	0.408																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1543-1545)Att>Ctt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						88.0	92.0	91.0					2																	170135904		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170135904T>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1543A>C	2.37:g.170135904T>G	ENSP00000263816:p.Ile515Leu		Somatic				LRP2_ENST00000443831.1_Missense_Mutation_p.I515L	p.I515L	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1828	-			515					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1543A>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	7.003	0.555250	0.13436	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97089	-4.24;-4.24	5.58	0.17	0.15021	Six-bladed beta-propeller, TolB-like (1);	0.299894	0.36591	N	0.002514	D	0.91546	0.7330	N	0.21282	0.65	0.28877	N	0.894636	B;B	0.18863	0.031;0.008	B;B	0.23419	0.046;0.023	T	0.82358	-0.0497	9	.	.	.	.	8.9037	0.35510	0.0:0.0634:0.3594:0.5772	.	515;515	E9PC35;P98164	.;LRP2_HUMAN	L	515	ENSP00000263816:I515L;ENSP00000409813:I515L	.	I	-	1	0	LRP2	169844150	1.000000	0.71417	0.911000	0.35937	0.982000	0.71751	1.370000	0.34238	-0.184000	0.10567	-0.321000	0.08615	ATT		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		43	80	0	0	0	1	0	43	80				
ZC4H2	55906	broad.mit.edu	37	X	64137703	64137703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:64137703G>A	ENST00000374839.3	-	5	741	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.S189F|ZC4H2_ENST00000545618.1_Missense_Mutation_p.S207F|ZC4H2_ENST00000447788.2_Missense_Mutation_p.P158S	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	212					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGGTTCCGGGACCGACTCTT	0.488																																						ENST00000545618.1																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(619-621)tCc>tTc		zinc finger, C4H2 domain containing							148.0	97.0	114.0					X																	64137703		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64137703G>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.635C>T	X.37:g.64137703G>A	ENSP00000363972:p.Ser212Phe		Somatic				ZC4H2_ENST00000447788.2_Missense_Mutation_p.P158S|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.S212F|ZC4H2_ENST00000337990.2_Missense_Mutation_p.S189F	p.S207F			WXS	Illumina GAIIx	Phase_I	Q9NQZ6	ZC4H2_HUMAN			6	1183	-			212					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.620C>T	CCDS14380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.759127|4.759127	0.89843|0.89843	.|.	.|.	ENSG00000126970|ENSG00000126970	ENST00000447788|ENST00000545618;ENST00000374839;ENST00000337990	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79522|0.79522	0.4460|0.4460	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|D	0.17465|0.60160	0.022|0.987	B|D	0.19391|0.77557	0.025|0.99	T|T	0.82163|0.82163	-0.0593|-0.0593	7|8	0.21540|0.87932	T|D	0.41|0	.|.	15.7662|15.7662	0.78128|0.78128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158|212	B4DED0|Q9NQZ6	.|ZC4H2_HUMAN	S|F	158|207;212;189	.|.	ENSP00000399126:P158S|ENSP00000338650:S189F	P|S	-|-	1|2	0|0	ZC4H2|ZC4H2	64054428|64054428	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	9.097000|9.097000	0.94193|0.94193	2.408000|2.408000	0.81797|0.81797	0.594000|0.594000	0.82650|0.82650	CCC|TCC		0.488	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		3	47	0	0	0	1	0	3	47				
MAST1	22983	broad.mit.edu	37	19	12962788	12962788	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:12962788C>G	ENST00000251472.4	+	8	854	c.815C>G	c.(814-816)aCt>aGt	p.T272S	MAST1_ENST00000591495.1_Missense_Mutation_p.T268S	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCTTCGTTACTCAGCTGGTG	0.612																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(814-816)aCt>aGt		microtubule associated serine/threonine kinase 1							114.0	95.0	102.0					19																	12962788		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12962788C>G	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.815C>G	19.37:g.12962788C>G	ENSP00000251472:p.Thr272Ser		Somatic				MAST1_ENST00000591495.1_Missense_Mutation_p.T268S	p.T272S	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H9	MAST1_HUMAN			8	854	+			272						Missense_Mutation	SNP	ENST00000251472.4	37	c.815C>G	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.916109	0.33815	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.29142	1.58	5.23	5.23	0.72850	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.128103	0.51477	D	0.000098	T	0.31358	0.0794	L	0.45285	1.41	0.35085	D	0.76377	B;B	0.23540	0.087;0.003	B;B	0.32928	0.155;0.015	T	0.30822	-0.9965	10	0.22109	T	0.4	-9.2981	16.6562	0.85229	0.0:1.0:0.0:0.0	.	272;272	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	S	272	ENSP00000251472:T272S	ENSP00000251472:T272S	T	+	2	0	MAST1	12823788	0.000000	0.05858	0.987000	0.45799	0.914000	0.54420	-0.034000	0.12225	2.615000	0.88500	0.484000	0.47621	ACT		0.612	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		20	32	0	0	0	1	0	20	32				
CSF3R	1441	broad.mit.edu	37	1	36937914	36937914	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:36937914G>C	ENST00000373106.1	-	8	1469	c.922C>G	c.(922-924)Cgc>Ggc	p.R308G	CSF3R_ENST00000373103.1_Missense_Mutation_p.R308G|CSF3R_ENST00000440588.2_Missense_Mutation_p.R308G|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.R308G|CSF3R_ENST00000418048.2_Missense_Mutation_p.R308G|CSF3R_ENST00000361632.4_Missense_Mutation_p.R308G|CSF3R_ENST00000338937.5_Missense_Mutation_p.R308G|CSF3R_ENST00000373104.1_Missense_Mutation_p.R308G	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	308	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGGATGCAGCGTATCTGCAGG	0.662																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(922-924)Cgc>Ggc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						46.0	54.0	51.0					1																	36937914		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36937914G>C	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.922C>G	1.37:g.36937914G>C	ENSP00000362198:p.Arg308Gly		Somatic				CSF3R_ENST00000440588.2_Missense_Mutation_p.R308G|CSF3R_ENST00000331941.5_Missense_Mutation_p.R308G|CSF3R_ENST00000338937.5_Missense_Mutation_p.R308G|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.R308G|CSF3R_ENST00000361632.4_Missense_Mutation_p.R308G|CSF3R_ENST00000373106.1_Missense_Mutation_p.R308G|CSF3R_ENST00000373104.1_Missense_Mutation_p.R308G	p.R308G	NM_156039.3	NP_724781.1	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			8	1469	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	308			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000373106.1	37	c.922C>G	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527071	0.64860	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	4.88	3.92	0.45320	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.81341	2.54	0.45690	D	0.998601	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.992;0.983;0.998	T	0.79220	-0.1893	10	0.87932	D	0	-27.3117	13.447	0.61146	0.0:0.0:0.8434:0.1566	.	308;308;308;308	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	G	308	ENSP00000362198:R308G;ENSP00000362196:R308G;ENSP00000362195:R308G;ENSP00000355406:R308G;ENSP00000332180:R308G;ENSP00000401588:R308G;ENSP00000345013:R308G;ENSP00000397568:R308G	ENSP00000332180:R308G	R	-	1	0	CSF3R	36710501	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.202000	0.58446	2.531000	0.85337	0.655000	0.94253	CGC		0.662	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		28	73	0	0	0	1	0	28	73				
TBX22	50945	broad.mit.edu	37	X	79286340	79286340	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:79286340T>G	ENST00000373294.5	+	8	1321	c.1293T>G	c.(1291-1293)gaT>gaG	p.D431E	TBX22_ENST00000442340.1_Missense_Mutation_p.D311E|TBX22_ENST00000373296.3_Missense_Mutation_p.D431E|TBX22_ENST00000373291.1_Missense_Mutation_p.D311E	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	431					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAGTGATCAGTATCTAC	0.423																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(931-933)gaT>gaG		T-box 22							133.0	126.0	128.0					X																	79286340		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286340T>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1293T>G	X.37:g.79286340T>G	ENSP00000362390:p.Asp431Glu		Somatic				TBX22_ENST00000373296.3_Missense_Mutation_p.D431E|TBX22_ENST00000373294.5_Missense_Mutation_p.D431E|TBX22_ENST00000373291.1_Missense_Mutation_p.D311E	p.D311E	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	WXS	Illumina GAIIx	Phase_I	Q9Y458	TBX22_HUMAN			9	1423	+			431					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.933T>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	0.531	-0.857996	0.02610	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.12	-1.36	0.09085	.	7739.210000	0.00166	N	0.000000	T	0.50377	0.1612	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39313	-0.9620	10	0.12430	T	0.62	.	1.0958	0.01673	0.2343:0.1191:0.3885:0.2581	.	431	Q9Y458	TBX22_HUMAN	E	431;311;431;311	ENSP00000362393:D431E;ENSP00000396394:D311E;ENSP00000362390:D431E;ENSP00000362388:D311E	ENSP00000362388:D311E	D	+	3	2	TBX22	79172996	0.677000	0.27577	0.008000	0.14137	0.005000	0.04900	-0.339000	0.07832	-0.806000	0.04398	-0.483000	0.04790	GAT		0.423	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		5	268	0	0	0	1	0	5	268				
ZBTB44	29068	broad.mit.edu	37	11	130131510	130131510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:130131510C>A	ENST00000357899.4	-	2	531	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	ZBTB44_ENST00000525842.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000530205.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.E87*			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.E87Q(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAAGCATATTCTAAAAGAGGT	0.408																																						ENST00000525842.1																			1	Substitution - Missense(1)	p.E87Q(1)	lung(1)	autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(259-261)Gaa>Taa		zinc finger and BTB domain containing 44							82.0	85.0	84.0					11																	130131510		1948	4144	6092	SO:0001587	stop_gained	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131510C>A	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.259G>T	11.37:g.130131510C>A	ENSP00000350574:p.Glu87*		Somatic				ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000530205.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000357899.4_Nonsense_Mutation_p.E87*	p.E87*	NM_014155.4	NP_054874.3	WXS	Illumina GAIIx	Phase_I	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	626	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	87			BTB.		Q6IPT8|Q86VJ7|Q86XX5	Nonsense_Mutation	SNP	ENST00000357899.4	37	c.259G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.763628|5.763628	0.96906|0.96906	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205|ENST00000527478	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81108	.|0.4754	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78437	.|-0.2204	.|3	0.87932|.	D|.	0|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	87|83	.|.	ENSP00000350574:E87X|.	E|R	-|-	1|2	0|0	ZBTB44|ZBTB44	129636720|129636720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.456000|7.456000	0.80751|0.80751	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.408	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		3	38	1	0	0.00909568	1	0.00994179	3	38				
CNGA1	1259	broad.mit.edu	37	4	47938619	47938619	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:47938619T>A	ENST00000514170.1	-	11	2211	c.1892A>T	c.(1891-1893)gAg>gTg	p.E631V	CNGA1_ENST00000402813.3_Missense_Mutation_p.E700V|CNGA1_ENST00000420489.2_Missense_Mutation_p.E631V|CNGA1_ENST00000358519.4_Missense_Mutation_p.E631V|CNGA1_ENST00000544810.1_Missense_Mutation_p.E631V			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	631					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TACTGACCCCTCCATTCGAGT	0.428																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(2098-2100)gAg>gTg		cyclic nucleotide gated channel alpha 1							143.0	141.0	142.0					4																	47938619		1912	4113	6025	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938619T>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1892A>T	4.37:g.47938619T>A	ENSP00000426862:p.Glu631Val		Somatic				CNGA1_ENST00000358519.4_Missense_Mutation_p.E631V|CNGA1_ENST00000544810.1_Missense_Mutation_p.E631V|CNGA1_ENST00000514170.1_Missense_Mutation_p.E631V|CNGA1_ENST00000420489.2_Missense_Mutation_p.E631V	p.E700V			WXS	Illumina GAIIx	Phase_I	P29973	CNGA1_HUMAN			10	2241	-			631					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.2099A>T	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235774	0.39498	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97279	-4.2;-4.32;-4.32;-4.32;-4.32	4.77	4.77	0.60923	.	0.168241	0.53938	D	0.000056	D	0.97133	0.9063	M	0.85197	2.74	0.45005	D	0.998027	D;D	0.54601	0.967;0.967	P;P	0.46320	0.512;0.512	D	0.97447	1.0025	10	0.66056	D	0.02	.	14.615	0.68541	0.0:0.0:0.0:1.0	.	631;631	Q4W5E3;P29973	.;CNGA1_HUMAN	V	700;631;631;631;631	ENSP00000384264:E700V;ENSP00000426862:E631V;ENSP00000443401:E631V;ENSP00000351320:E631V;ENSP00000389881:E631V	ENSP00000351320:E631V	E	-	2	0	CNGA1	47633376	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.791000	0.55469	1.907000	0.55213	0.402000	0.26972	GAG		0.428	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		121	252	0	0	0	1	0	121	252				
ZNF708	7562	broad.mit.edu	37	19	21492129	21492129	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:21492129T>A	ENST00000356929.3	-	3	342	c.145A>T	c.(145-147)Aat>Tat	p.N49Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0			K -> E (in dbSNP:rs1781873). {ECO:0000269|PubMed:14702039}.		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)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AGGTCTAAATTAGACACAGCA	0.403																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(145-147)Aat>Tat		zinc finger protein 708							94.0	94.0	94.0					19																	21492129		2203	4300	6503	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21492129T>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.145A>T	19.37:g.21492129T>A	ENSP00000349401:p.Asn49Tyr		Somatic					p.N49Y	NM_021269.2	NP_067092.2	WXS	Illumina GAIIx	Phase_I	P17019	ZN708_HUMAN			3	342	-			49			KRAB.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.145A>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	15.88	2.962780	0.53507	.	.	ENSG00000182141	ENST00000356929	T	0.00801	5.68	0.225	0.225	0.15325	Krueppel-associated box (3);	.	.	.	.	T	0.01454	0.0047	L	0.52126	1.63	0.24939	N	0.991869	P	0.47106	0.89	P	0.45753	0.492	T	0.49881	-0.8892	8	0.66056	D	0.02	.	.	.	.	.	49	P17019	ZN708_HUMAN	Y	49	ENSP00000349401:N49Y	ENSP00000349401:N49Y	N	-	1	0	ZNF708	21283969	0.142000	0.22610	0.984000	0.44739	0.984000	0.73092	1.132000	0.31418	0.257000	0.21650	0.254000	0.18369	AAT		0.403	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		53	72	0	0	0	1	0	53	72				
ITPR1	3708	broad.mit.edu	37	3	4706866	4706866	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:4706866C>T	ENST00000443694.2	+	14	1554	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.G533G|ITPR1_ENST00000302640.8_Silent_p.G518G|ITPR1_ENST00000456211.2_Silent_p.G518G|ITPR1_ENST00000354582.6_Silent_p.G533G|ITPR1_ENST00000423119.2_Silent_p.G533G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	533					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCGGTGATGGCCCAATGCTTC	0.517																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(1597-1599)ggC>ggT		inositol 1,4,5-trisphosphate receptor, type 1							98.0	100.0	99.0					3																	4706866		1981	4154	6135	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4706866C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1554C>T	3.37:g.4706866C>T			Somatic				ITPR1_ENST00000357086.4_Silent_p.G533G|ITPR1_ENST00000456211.2_Silent_p.G518G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.G518G|ITPR1_ENST00000423119.2_Silent_p.G533G|ITPR1_ENST00000302640.8_Silent_p.G518G	p.G533G			WXS	Illumina GAIIx	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	17	1949	+			533					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.1599C>T	CCDS54551.1																																																																																				0.517	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		3	116	0	0	0	1	0	3	116				
MAGEB6	158809	broad.mit.edu	37	X	26212243	26212243	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:26212243C>A	ENST00000379034.1	+	2	429	c.280C>A	c.(280-282)Cca>Aca	p.P94T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	94	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAGAAAAGTCCAAGCACCTC	0.532																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(280-282)Cca>Aca		melanoma antigen family B, 6							88.0	81.0	83.0					X																	26212243		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212243C>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.280C>A	X.37:g.26212243C>A	ENSP00000368320:p.Pro94Thr		Somatic					p.P94T	NM_173523.2	NP_775794.2	WXS	Illumina GAIIx	Phase_I	Q8N7X4	MAGB6_HUMAN			2	429	+			94			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.280C>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	1.984	-0.433508	0.04669	.	.	ENSG00000176746	ENST00000379034	T	0.04917	3.53	1.83	-3.65	0.04502	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.04092	0.0114	L	0.35542	1.07	0.09310	N	1	B	0.28801	0.223	B	0.18263	0.021	T	0.29701	-1.0003	9	0.29301	T	0.29	.	6.6856	0.23144	0.0:0.3992:0.458:0.1428	.	94	Q8N7X4	MAGB6_HUMAN	T	94	ENSP00000368320:P94T	ENSP00000368320:P94T	P	+	1	0	MAGEB6	26122164	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.764000	0.01800	-2.278000	0.00677	-1.711000	0.00714	CCA		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		50	111	1	0	3.37225e-12	1	4.22655e-12	50	111				
EFCAB6	64800	broad.mit.edu	37	22	43924839	43924839	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:43924839C>A	ENST00000262726.7	-	32	4653	c.4400G>T	c.(4399-4401)aGc>aTc	p.S1467I	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1315I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1467	EF-hand 16. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGGTTGATGCTGTACTGTCT	0.522																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(4399-4401)aGc>aTc		EF-hand calcium binding domain 6							88.0	90.0	89.0					22																	43924839		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43924839C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4400G>T	22.37:g.43924839C>A	ENSP00000262726:p.Ser1467Ile		Somatic				EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1315I|EFCAB6-AS1_ENST00000431327.2_RNA	p.S1467I	NM_022785.3	NP_073622.2	WXS	Illumina GAIIx	Phase_I	Q5THR3	EFCB6_HUMAN			32	4653	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1467			EF-hand 16.|Interaction with AR.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.4400G>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058510	0.76074	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08546	3.08;3.08	5.12	5.12	0.69794	EF-hand-like domain (1);	0.066333	0.64402	D	0.000014	T	0.19208	0.0461	L	0.48642	1.525	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	T	0.00247	-1.1881	10	0.38643	T	0.18	-27.4342	15.8748	0.79154	0.0:1.0:0.0:0.0	.	1467	Q5THR3	EFCB6_HUMAN	I	1315;1467	ENSP00000379533:S1315I;ENSP00000262726:S1467I	ENSP00000262726:S1467I	S	-	2	0	EFCAB6	42256172	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.038000	0.41184	2.538000	0.85594	0.655000	0.94253	AGC		0.522	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		33	125	1	0	1.06647e-15	1	1.36392e-15	33	125				
HPS6	79803	broad.mit.edu	37	10	103826147	103826147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:103826147G>T	ENST00000299238.5	+	1	1001	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	306					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CACCCTGCAGGAGGCACCTGT	0.652									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(916-918)Gag>Tag		Hermansky-Pudlak syndrome 6							47.0	53.0	51.0					10																	103826147		2203	4300	6503	SO:0001587	stop_gained	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826147G>T	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.916G>T	10.37:g.103826147G>T	ENSP00000299238:p.Glu306*		Somatic					p.E306*	NM_024747.5	NP_079023.2	WXS	Illumina GAIIx	Phase_I	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1001	+		Colorectal(252;0.122)	306					Q5VV69|Q9H685	Nonsense_Mutation	SNP	ENST00000299238.5	37	c.916G>T	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115056	0.94339	.	.	ENSG00000166189	ENST00000299238	.	.	.	5.17	4.2	0.49525	.	0.465675	0.22147	N	0.063980	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-12.9006	14.5067	0.67758	0.0:0.0:0.8441:0.1559	.	.	.	.	X	306	.	ENSP00000299238:E306X	E	+	1	0	HPS6	103816137	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.780000	0.62382	2.681000	0.91329	0.561000	0.74099	GAG		0.652	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		4	43	1	0	0.000602214	1	0.000682026	4	43				
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(139-141)agA>agG		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296599T>C	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.141A>G	17.37:g.39296599T>C			Somatic					p.R47R	NM_030976.1	NP_112238.1	WXS	Illumina GAIIx	Phase_I	Q9BYQ5	KRA46_HUMAN			1	140	-			47			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.141A>G	CCDS54125.1																																																																																				0.682	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	31	0	0	0	1	0	3	31				
PSG7	5676	broad.mit.edu	37	19	43439883	43439883	+	RNA	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:43439883G>T	ENST00000406070.2	-	0	199				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ATCGTGACTTGGGCTGTGGTG	0.488																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							138.0	143.0	141.0					19																	43439883		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43439883G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439883G>T			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	192	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		72	194	1	0	2.5963e-48	1	3.38962e-48	72	194				
SPTB	6710	broad.mit.edu	37	14	65240106	65240106	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:65240106C>T	ENST00000389721.5	-	24	5042	c.5010G>A	c.(5008-5010)aaG>aaA	p.K1670K	SPTB_ENST00000389722.3_Silent_p.K1670K|SPTB_ENST00000389720.3_Silent_p.K1670K|SPTB_ENST00000542895.1_Silent_p.K1670K|SPTB_ENST00000556626.1_Silent_p.K1670K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1670					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGCGTAGTGCTTGTCCACTT	0.587																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5008-5010)aaG>aaA		spectrin, beta, erythrocytic							123.0	110.0	115.0					14																	65240106		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65240106C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5010G>A	14.37:g.65240106C>T			Somatic				SPTB_ENST00000542895.1_Silent_p.K1670K|SPTB_ENST00000389720.3_Silent_p.K1670K|SPTB_ENST00000556626.1_Silent_p.K1670K|SPTB_ENST00000389721.5_Silent_p.K1670K	p.K1670K	NM_001024858.2	NP_001020029.1	WXS	Illumina GAIIx	Phase_I	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	24	5063	-		all_lung(585;4.15e-09)	1670					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5010G>A	CCDS32100.1																																																																																				0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	115	0	0	0	1	0	5	115				
DNAH5	1767	broad.mit.edu	37	5	13883076	13883076	+	Silent	SNP	G	G	T	rs371824972		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:13883076G>T	ENST00000265104.4	-	20	3215	c.3111C>A	c.(3109-3111)gcC>gcA	p.A1037A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1037	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCACTCCACGGCTTTGTTCA	0.532									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3109-3111)gcC>gcA		dynein, axonemal, heavy chain 5							171.0	150.0	157.0					5																	13883076		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883076G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3111C>A	5.37:g.13883076G>T			Somatic				CTB-51A17.1_ENST00000503244.1_RNA	p.A1037A	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			20	3215	-	Lung NSC(4;0.00476)		1037			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.3111C>A	CCDS3882.1																																																																																				0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	300	1	0	0.00024832	1	0.000286406	4	300				
DUOX2	50506	broad.mit.edu	37	15	45389452	45389452	+	Silent	SNP	C	C	T	rs574030530		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:45389452C>T	ENST00000603300.1	-	29	4033	c.3831G>A	c.(3829-3831)gcG>gcA	p.A1277A	DUOX2_ENST00000389039.6_Silent_p.A1277A	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1277	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCAGCAGCTCCGCCTTCACCA	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19405	0.0		0.0	False		,,,				2504	0.0					ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3829-3831)gcG>gcA		dual oxidase 2							98.0	90.0	92.0					15																	45389452		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45389452C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3831G>A	15.37:g.45389452C>T			Somatic				DUOX2_ENST00000603300.1_Silent_p.A1277A	p.A1277A			WXS	Illumina GAIIx	Phase_I	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	29	4216	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1277			FAD-binding FR-type.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.3831G>A	CCDS10117.1																																																																																				0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		11	66	0	0	0	1	0	11	66				
DCHS2	54798	broad.mit.edu	37	4	155157334	155157334	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:155157334G>T	ENST00000357232.4	-	25	7104	c.7105C>A	c.(7105-7107)Ctc>Atc	p.L2369I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2369	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAGGAAGAGATCATGATCA	0.393																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7105-7107)Ctc>Atc		dachsous cadherin-related 2							103.0	95.0	98.0					4																	155157334		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157334G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7105C>A	4.37:g.155157334G>T	ENSP00000349768:p.Leu2369Ile		Somatic					p.L2369I	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7104	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2369			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7105C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	2.717	-0.267428	0.05754	.	.	ENSG00000197410	ENST00000357232	T	0.51325	0.71	5.73	0.806	0.18708	Cadherin (4);Cadherin-like (1);	0.940945	0.08888	N	0.879076	T	0.31918	0.0812	L	0.42686	1.345	0.09310	N	1	P	0.36027	0.533	B	0.34301	0.179	T	0.19128	-1.0315	10	0.23302	T	0.38	.	1.1556	0.01795	0.2364:0.1062:0.4028:0.2546	.	2369	Q6V1P9	PCD23_HUMAN	I	2369	ENSP00000349768:L2369I	ENSP00000349768:L2369I	L	-	1	0	DCHS2	155376784	0.074000	0.21230	0.005000	0.12908	0.108000	0.19459	0.456000	0.21859	0.150000	0.19136	-0.140000	0.14226	CTC		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		15	146	1	0	4.75885e-15	1	6.04502e-15	15	146				
DGCR2	9993	broad.mit.edu	37	22	19055739	19055739	+	Splice_Site	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:19055739C>A	ENST00000263196.7	-	3	450		c.e3-1		DGCR2_ENST00000545799.1_Splice_Site|DGCR2_ENST00000473832.1_5'Flank|DGCR2_ENST00000537045.1_Splice_Site	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2						cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCGGTCACTTCTGAAAGCAAA	0.637																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.e3-1		DiGeorge syndrome critical region gene 2							43.0	35.0	38.0					22																	19055739		2203	4300	6503	SO:0001630	splice_region_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19055739C>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.203-1G>T	22.37:g.19055739C>A			Somatic				DGCR2_ENST00000537045.1_Splice_Site|DGCR2_ENST00000263196.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	P98153	IDD_HUMAN			3	403	-	Colorectal(54;0.0993)							A6NIB5|A8K6K5|B5TY34|B7Z935	Splice_Site	SNP	ENST00000263196.7	37		CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441791	0.63067	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7522	0.91820	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGCR2	17435739	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	3.920000	0.56446	2.525000	0.85131	0.650000	0.86243	.		0.637	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137	Intron	7	12	1	0	8.12818e-05	1	9.4913e-05	7	12				
GMIP	51291	broad.mit.edu	37	19	19746264	19746264	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:19746264T>C	ENST00000203556.4	-	15	1657	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.E478G|GMIP_ENST00000587238.1_Missense_Mutation_p.E481G	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	507					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCTTCGCACTCGCGGCACTT	0.632																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1519-1521)gAg>gGg		GEM interacting protein							93.0	84.0	87.0					19																	19746264		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19746264T>C	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1520A>G	19.37:g.19746264T>C	ENSP00000203556:p.Glu507Gly		Somatic				GMIP_ENST00000587238.1_Missense_Mutation_p.E481G|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.E478G	p.E507G	NM_016573.2	NP_057657.2	WXS	Illumina GAIIx	Phase_I	Q9P107	GMIP_HUMAN			15	1657	-			507					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1520A>G	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165127	0.57476	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	D;D	0.84223	-1.82;-1.82	4.91	4.91	0.64330	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.151030	0.30602	N	0.009279	D	0.90331	0.6975	M	0.69358	2.11	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71414	0.973;0.948;0.973	D	0.90656	0.4586	10	0.54805	T	0.06	-16.5884	12.4993	0.55946	0.0:0.0:0.0:1.0	.	478;481;507	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	G	507;478	ENSP00000203556:E507G;ENSP00000397075:E478G	ENSP00000203556:E507G	E	-	2	0	GMIP	19607264	1.000000	0.71417	0.899000	0.35326	0.799000	0.45148	7.635000	0.83286	1.838000	0.53458	0.459000	0.35465	GAG		0.632	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		15	31	0	0	0	1	0	15	31				
CD63	967	broad.mit.edu	37	12	56120509	56120509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:56120509G>A	ENST00000549117.1	-	5	837	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CD63_ENST00000420846.3_Missense_Mutation_p.S134L|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_Missense_Mutation_p.S41L|CD63_ENST00000550776.1_Missense_Mutation_p.S52L|CD63_ENST00000548160.1_Missense_Mutation_p.S41L|CD63_ENST00000546939.1_Missense_Mutation_p.S52L|CD63_ENST00000552067.1_Missense_Mutation_p.S41L|CD63_ENST00000552692.1_Missense_Mutation_p.S134L|CD63_ENST00000552754.1_Missense_Mutation_p.S111L|CD63_ENST00000257857.4_Missense_Mutation_p.S134L	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	134					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GTCCAGGATCGAAGCAGTGTG	0.522																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(400-402)tCg>tTg		CD63 molecule							125.0	113.0	117.0					12																	56120509		2203	4300	6503	SO:0001583	missense	967				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56120509G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.401C>T	12.37:g.56120509G>A	ENSP00000447730:p.Ser134Leu		Somatic				CD63_ENST00000552067.1_Missense_Mutation_p.S41L|CD63_ENST00000548160.1_Missense_Mutation_p.S41L|CD63_ENST00000552692.1_Missense_Mutation_p.S134L|CD63_ENST00000420846.3_Missense_Mutation_p.S134L|CD63_ENST00000257857.4_Missense_Mutation_p.S134L|CD63_ENST00000550776.1_Missense_Mutation_p.S52L|CD63_ENST00000552754.1_Missense_Mutation_p.S111L|CD63_ENST00000548898.1_Missense_Mutation_p.S41L|CD63_ENST00000546939.1_Missense_Mutation_p.S52L	p.S134L	NM_001257389.1	NP_001244318.1	WXS	Illumina GAIIx	Phase_I	P08962	CD63_HUMAN			5	837	-			134					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.401C>T	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560073	0.27827	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.08	-5.42	0.02640	Tetraspanin, EC2 domain (1);	2.354970	0.01563	N	0.020215	T	0.57330	0.2046	N	0.11154	0.105	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.47222	-0.9134	10	0.25751	T	0.34	.	8.1828	0.31322	0.5669:0.1124:0.3207:0.0	.	111;134;134	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	L	41;41;134;41;52;134;134;134;111;52;134;134	ENSP00000447938:S41L;ENSP00000449684:S41L;ENSP00000393502:S134L;ENSP00000449654:S41L;ENSP00000447356:S52L;ENSP00000449337:S134L;ENSP00000447730:S134L;ENSP00000257857:S134L;ENSP00000446807:S111L;ENSP00000448091:S52L;ENSP00000449281:S134L;ENSP00000446752:S134L	ENSP00000257857:S134L	S	-	2	0	CD63	54406776	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.618000	0.00880	-0.923000	0.03785	-0.469000	0.05056	TCG		0.522	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			10	24	0	0	0	1	0	10	24				
NRAP	4892	broad.mit.edu	37	10	115422479	115422479	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:115422479A>C	ENST00000359988.3	-	3	458	c.214T>G	c.(214-216)Tta>Gta	p.L72V	NRAP_ENST00000369360.3_Missense_Mutation_p.L72V|NRAP_ENST00000369358.4_Missense_Mutation_p.L72V|NRAP_ENST00000360478.3_Missense_Mutation_p.L72V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTAGATTTAATGGAGTGTGA	0.368																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(214-216)Tta>Gta		nebulin-related anchoring protein							138.0	129.0	132.0					10																	115422479		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115422479A>C		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.214T>G	10.37:g.115422479A>C	ENSP00000353078:p.Leu72Val		Somatic				NRAP_ENST00000359988.3_Missense_Mutation_p.L72V|NRAP_ENST00000360478.3_Missense_Mutation_p.L72V|NRAP_ENST00000369360.3_Missense_Mutation_p.L72V	p.L72V			WXS	Illumina GAIIx	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	3	458	-		Colorectal(252;0.0233)|Breast(234;0.188)	72						Missense_Mutation	SNP	ENST00000359988.3	37	c.214T>G	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	2.528	-0.309253	0.05458	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16743	2.52;2.52;2.41;2.32	5.53	5.53	0.82687	.	0.149208	0.47455	D	0.000225	T	0.08537	0.0212	N	0.20530	0.585	0.32593	N	0.526884	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.14023	0.007;0.01;0.006	T	0.23084	-1.0198	10	0.02654	T	1	.	7.1177	0.25427	0.6242:0.2461:0.0:0.1297	.	72;72;72	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	72	ENSP00000358365:L72V;ENSP00000358367:L72V;ENSP00000353078:L72V;ENSP00000353666:L72V	ENSP00000353078:L72V	L	-	1	2	NRAP	115412469	0.022000	0.18835	0.986000	0.45419	0.389000	0.30415	0.290000	0.18975	2.240000	0.73641	0.528000	0.53228	TTA		0.368	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		38	61	0	0	0	1	0	38	61				
PLCB1	23236	broad.mit.edu	37	20	8703023	8703023	+	Silent	SNP	C	C	T	rs544749418		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:8703023C>T	ENST00000338037.6	+	15	1563	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	PLCB1_ENST00000378641.3_Silent_p.D512D|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.D512D	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	512					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGGAAAGTGACGACGACGATG	0.408																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(1534-1536)gaC>gaT		phospholipase C, beta 1 (phosphoinositide-specific)							209.0	171.0	184.0					20																	8703023		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8703023C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1536C>T	20.37:g.8703023C>T			Somatic				PLCB1_ENST00000338037.6_Silent_p.D512D|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.D512D	p.D512D	NM_182734.1	NP_877398.1	WXS	Illumina GAIIx	Phase_I	Q9NQ66	PLCB1_HUMAN			15	2011	+			512					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.1536C>T	CCDS13102.1																																																																																				0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			32	149	0	0	0	1	0	32	149				
SNAP25	6616	broad.mit.edu	37	20	10258335	10258335	+	Silent	SNP	G	G	A	rs147866099	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:10258335G>A	ENST00000254976.2	+	3	286	c.75G>A	c.(73-75)tcG>tcA	p.S25S	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Silent_p.S25S|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	25	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AATCTTAGTCGCTGGAAAGCA	0.363													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					ENST00000254976.2																			0				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(73-75)tcG>tcA		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						73.0	70.0	71.0					20																	10258335		2203	4300	6503	SO:0001819	synonymous_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10258335G>A		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.75G>A	20.37:g.10258335G>A			Somatic				SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Silent_p.S25S|SNAP25-AS1_ENST00000421143.2_RNA	p.S25S	NM_130811.2	NP_570824.1	WXS	Illumina GAIIx	Phase_I	P60880	SNP25_HUMAN			3	286	+			25			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP	ENST00000254976.2	37	c.75G>A	CCDS13110.1																																																																																				0.363	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		3	56	0	0	0	1	0	3	56				
ENPP7	339221	broad.mit.edu	37	17	77710932	77710932	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:77710932C>A	ENST00000328313.5	+	4	1340	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.F373L(5)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCTAGCTTCAGGGCGGGCC	0.607																																						ENST00000328313.5																			5	Substitution - Missense(5)	p.F373L(5)	prostate(3)|lung(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1117-1119)ttC>ttA		ectonucleotide pyrophosphatase/phosphodiesterase 7							88.0	77.0	81.0					17																	77710932		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77710932C>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1119C>A	17.37:g.77710932C>A	ENSP00000332656:p.Phe373Leu		Somatic					p.F373L	NM_178543.3	NP_848638.2	WXS	Illumina GAIIx	Phase_I	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1340	+			373						Missense_Mutation	SNP	ENST00000328313.5	37	c.1119C>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659878	0.47572	.	.	ENSG00000182156	ENST00000328313	T	0.77098	-1.07	3.51	1.46	0.22682	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	M	0.73753	2.245	0.47407	D	0.999417	D	0.69078	0.997	D	0.66602	0.945	T	0.81647	-0.0838	10	0.87932	D	0	-40.2165	7.3343	0.26601	0.0:0.7189:0.0:0.2811	.	373	Q6UWV6	ENPP7_HUMAN	L	373	ENSP00000332656:F373L	ENSP00000332656:F373L	F	+	3	2	ENPP7	75325527	0.080000	0.21391	0.462000	0.27118	0.362000	0.29581	0.588000	0.23924	0.299000	0.22661	0.561000	0.74099	TTC		0.607	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		3	44	1	0	1	1	1	3	44				
NAA35	60560	broad.mit.edu	37	9	88624791	88624791	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:88624791A>G	ENST00000361671.5	+	15	1368	c.1235A>G	c.(1234-1236)tAt>tGt	p.Y412C		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	412					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TGCTACCTATATAATAATCAC	0.388																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1234-1236)tAt>tGt		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							226.0	216.0	220.0					9																	88624791		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88624791A>G	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1235A>G	9.37:g.88624791A>G	ENSP00000354972:p.Tyr412Cys		Somatic					p.Y412C	NM_024635.3	NP_078911.3	WXS	Illumina GAIIx	Phase_I	Q5VZE5	NAA35_HUMAN			15	1368	+			412					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.1235A>G	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217284	0.39201	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.03	5.03	0.67393	.	0.227351	0.38111	N	0.001813	T	0.41236	0.1150	N	0.19112	0.55	0.80722	D	1	P	0.44344	0.833	B	0.42188	0.379	T	0.35574	-0.9783	9	0.38643	T	0.18	-14.4691	15.0514	0.71872	1.0:0.0:0.0:0.0	.	412	Q5VZE5	NAA35_HUMAN	C	412	.	ENSP00000354972:Y412C	Y	+	2	0	NAA35	87814611	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.764000	0.74960	2.025000	0.59659	0.533000	0.62120	TAT		0.388	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		5	241	0	0	0	1	0	5	241				
PVRL3	25945	broad.mit.edu	37	3	110852894	110852894	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:110852894G>A	ENST00000485303.1	+	6	1757	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	494					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAAAAACTCAGTGGAACAATG	0.318																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(1480-1482)caG>caA		poliovirus receptor-related 3							38.0	41.0	40.0					3																	110852894		2202	4295	6497	SO:0001819	synonymous_variant	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852894G>A	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1482G>A	3.37:g.110852894G>A			Somatic				PVRL3_ENST00000493615.1_Intron	p.Q494Q	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	WXS	Illumina GAIIx	Phase_I	Q9NQS3	PVRL3_HUMAN			6	1757	+			494					E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	ENST00000485303.1	37	c.1482G>A	CCDS2957.1																																																																																				0.318	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		26	12	0	0	0	1	0	26	12				
TRAPPC8	22878	broad.mit.edu	37	18	29487429	29487429	+	Silent	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:29487429A>T	ENST00000283351.4	-	9	1718	c.1383T>A	c.(1381-1383)ggT>ggA	p.G461G	TRAPPC8_ENST00000582539.1_Silent_p.G407G|TRAPPC8_ENST00000582513.1_Silent_p.G461G	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	461					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAACCAAGGCACCAGCTGCAT	0.338																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1381-1383)ggT>ggA		trafficking protein particle complex 8							71.0	72.0	72.0					18																	29487429		2203	4300	6503	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29487429A>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1383T>A	18.37:g.29487429A>T			Somatic				TRAPPC8_ENST00000582513.1_Silent_p.G461G|TRAPPC8_ENST00000582539.1_Silent_p.G407G	p.G461G	NM_014939.3	NP_055754.2	WXS	Illumina GAIIx	Phase_I	Q9Y2L5	TPPC8_HUMAN			9	1718	-			461					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.1383T>A	CCDS11901.1																																																																																				0.338	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		5	20	0	0	0	1	0	5	20				
MRGPRX3	117195	broad.mit.edu	37	11	18159679	18159679	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:18159679G>C	ENST00000396275.2	+	3	1291	c.930G>C	c.(928-930)caG>caC	p.Q310H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCTTCCTCAGGAAACCCTGG	0.572																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(928-930)caG>caC		MAS-related GPR, member X3							39.0	42.0	41.0					11																	18159679		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159679G>C		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.930G>C	11.37:g.18159679G>C	ENSP00000379571:p.Gln310His		Somatic					p.Q310H	NM_054031.3	NP_473372.3	WXS	Illumina GAIIx	Phase_I	Q96LB0	MRGX3_HUMAN			3	1291	+			310					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.930G>C	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	5.258	0.233063	0.09969	.	.	ENSG00000179826	ENST00000396275	T	0.24151	1.87	1.3	0.296	0.15757	.	1.321610	0.05147	N	0.495389	T	0.22551	0.0544	L	0.46157	1.445	0.09310	N	1	B	0.22146	0.065	B	0.24269	0.052	T	0.32745	-0.9895	10	0.49607	T	0.09	.	3.6681	0.08264	0.2758:0.0:0.7242:0.0	.	310	Q96LB0	MRGX3_HUMAN	H	310	ENSP00000379571:Q310H	ENSP00000379571:Q310H	Q	+	3	2	MRGPRX3	18116255	0.013000	0.17824	0.007000	0.13788	0.082000	0.17680	0.181000	0.16880	0.092000	0.17331	0.195000	0.17529	CAG		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		7	69	0	0	0	1	0	7	69				
SEC13	6396	broad.mit.edu	37	3	10345822	10345822	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:10345822G>A	ENST00000350697.3	-	8	868	c.743C>T	c.(742-744)gCc>gTc	p.A248V	SEC13_ENST00000397109.3_Missense_Mutation_p.A234V|SEC13_ENST00000337354.4_Missense_Mutation_p.A251V|SEC13_ENST00000383801.2_Missense_Mutation_p.A294V|SEC13_ENST00000492602.1_5'UTR|SEC13_ENST00000397117.1_Missense_Mutation_p.A234V	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	248					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ATTGCTTGAGGCATCATCACA	0.498																																						ENST00000397117.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(700-702)gCc>gTc		SEC13 homolog (S. cerevisiae)							160.0	114.0	130.0					3																	10345822		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10345822G>A		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.743C>T	3.37:g.10345822G>A	ENSP00000312122:p.Ala248Val		Somatic				SEC13_ENST00000492602.1_5'UTR|SEC13_ENST00000350697.3_Missense_Mutation_p.A248V|SEC13_ENST00000397109.3_Missense_Mutation_p.A234V|SEC13_ENST00000337354.4_Missense_Mutation_p.A251V|SEC13_ENST00000383801.2_Missense_Mutation_p.A294V	p.A234V			WXS	Illumina GAIIx	Phase_I	P55735	SEC13_HUMAN			8	1292	-			248					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.701C>T	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916474	0.33815	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801	T;T;T;T;T	0.69561	0.86;-0.27;-0.41;0.02;-0.3	5.14	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.273419	0.41605	N	0.000846	T	0.50871	0.1641	L	0.29908	0.895	0.42524	D	0.993015	B;B;B;B	0.17667	0.023;0.0;0.0;0.013	B;B;B;B	0.08055	0.003;0.001;0.0;0.002	T	0.38564	-0.9655	10	0.31617	T	0.26	-10.8161	9.9175	0.41444	0.1671:0.0:0.8329:0.0	.	248;234;294;248	E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;SEC13_HUMAN	V	234;251;248;234;294	ENSP00000380298:A234V;ENSP00000336566:A251V;ENSP00000312122:A248V;ENSP00000380306:A234V;ENSP00000373312:A294V	ENSP00000336566:A251V	A	-	2	0	SEC13	10320822	1.000000	0.71417	0.474000	0.27266	0.635000	0.38103	4.135000	0.57997	0.576000	0.29452	-0.194000	0.12790	GCC		0.498	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			3	80	0	0	0	1	0	3	80				
SLC23A3	151295	broad.mit.edu	37	2	220026737	220026737	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:220026737T>A	ENST00000409878.3	-	12	1759	c.1727A>T	c.(1726-1728)gAt>gTt	p.D576V	SLC23A3_ENST00000396775.3_3'UTR|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000455516.2_Missense_Mutation_p.D584V|SLC23A3_ENST00000295738.7_Missense_Mutation_p.D459V	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	576					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCCTCATCCCCAGGGTC	0.587																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(1750-1752)gAt>gTt		solute carrier family 23, member 3							44.0	46.0	45.0					2																	220026737		1913	4129	6042	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220026737T>A	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1727A>T	2.37:g.220026737T>A	ENSP00000386473:p.Asp576Val		Somatic				SLC23A3_ENST00000295738.7_Missense_Mutation_p.D459V|SLC23A3_ENST00000409878.3_Missense_Mutation_p.D576V|SLC23A3_ENST00000396775.3_3'UTR	p.D584V	NM_001144890.1	NP_001138362.1	WXS	Illumina GAIIx	Phase_I	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1798	-		Renal(207;0.0474)	576					B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.1751A>T	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518646	0.44763	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516	T;T;T	0.47528	0.84;2.2;2.19	3.75	1.26	0.21427	.	0.684457	0.12587	N	0.455957	T	0.14917	0.0360	N	0.02011	-0.69	0.09310	N	0.999999	B;B;B	0.34214	0.442;0.442;0.023	B;B;B	0.26517	0.07;0.07;0.017	T	0.13442	-1.0509	9	.	.	.	.	3.6721	0.08277	0.1914:0.1081:0.0:0.7006	.	576;584;459	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	V	459;576;584	ENSP00000295738:D459V;ENSP00000386473:D576V;ENSP00000406546:D584V	.	D	-	2	0	SLC23A3	219734981	0.005000	0.15991	0.105000	0.21289	0.977000	0.68977	1.101000	0.31037	0.143000	0.18926	0.459000	0.35465	GAT		0.587	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		20	45	0	0	0	1	0	20	45				
NT5C3B	115024	broad.mit.edu	37	17	39981887	39981887	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:39981887T>A	ENST00000435506.2	-	9	860	c.791A>T	c.(790-792)tAc>tTc	p.Y264F	NT5C3B_ENST00000269534.8_Missense_Mutation_p.Y256F|NT5C3B_ENST00000521789.1_Missense_Mutation_p.Y164F			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	264					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										GGAGTCCATGTAGCGCTCCCG	0.622																																						ENST00000269534.8																			0											c.(766-768)tAc>tTc		5'-nucleotidase, cytosolic IIIB							95.0	94.0	94.0					17																	39981887		2203	4300	6503	SO:0001583	missense	115024							g.chr17:39981887T>A		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.791A>T	17.37:g.39981887T>A	ENSP00000389948:p.Tyr264Phe		Somatic				NT5C3B_ENST00000435506.2_Missense_Mutation_p.Y264F|NT5C3B_ENST00000521789.1_Missense_Mutation_p.Y164F	p.Y256F	NM_052935.4	NP_443167.4	WXS	Illumina GAIIx	Phase_I					9	868	-								A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	ENST00000435506.2	37	c.767A>T	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002887	0.74932	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506	D;D;D	0.86097	-2.07;-1.94;-2.07	5.91	5.91	0.95273	HAD-like domain (1);	0.063186	0.64402	D	0.000003	D	0.84871	0.5568	L	0.49640	1.575	0.58432	D	0.999999	P;P	0.41313	0.745;0.591	P;B	0.48166	0.569;0.29	T	0.83265	-0.0046	10	0.33940	T	0.23	-0.0473	11.1334	0.48360	0.1377:0.0:0.0:0.8623	.	264;256	C9JKC4;Q969T7	.;5NT3L_HUMAN	F	256;164;298;264	ENSP00000269534:Y256F;ENSP00000429878:Y164F;ENSP00000389948:Y264F	ENSP00000269534:Y256F	Y	-	2	0	NT5C3L	37235413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.948000	0.70249	2.262000	0.75019	0.528000	0.53228	TAC		0.622	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		17	53	0	0	0	1	0	17	53				
SLCO1C1	53919	broad.mit.edu	37	12	20874920	20874920	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:20874920G>A	ENST00000266509.2	+	8	1326	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202N|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D320N	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	320					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTTTATTATAGATGATCACAC	0.358																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(958-960)Gat>Aat		solute carrier organic anion transporter family, member 1C1							54.0	57.0	56.0					12																	20874920		2202	4300	6502	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874920G>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.958G>A	12.37:g.20874920G>A	ENSP00000266509:p.Asp320Asn		Somatic				SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320N|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D320N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202N	p.D320N			WXS	Illumina GAIIx	Phase_I	Q9NYB5	SO1C1_HUMAN			8	1326	+	Esophageal squamous(101;0.149)		320					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.958G>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666031	0.29604	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.52	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.887861	0.10067	N	0.720179	T	0.37785	0.1016	L	0.38175	1.15	0.22081	N	0.999372	B;B;B;B	0.25850	0.066;0.136;0.005;0.001	B;B;B;B	0.35312	0.124;0.2;0.012;0.016	T	0.36625	-0.9740	10	0.30854	T	0.27	.	9.9001	0.41342	0.078:0.1394:0.7826:0.0	.	202;271;320;320	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	N	320;271;320;320;202	ENSP00000444149:D320N;ENSP00000438665:D271N;ENSP00000266509:D320N;ENSP00000370964:D320N;ENSP00000444527:D202N	ENSP00000266509:D320N	D	+	1	0	SLCO1C1	20766187	1.000000	0.71417	0.655000	0.29622	0.811000	0.45836	3.497000	0.53295	1.247000	0.43917	0.563000	0.77884	GAT		0.358	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		9	36	0	0	0	1	0	9	36				
CNGA2	1260	broad.mit.edu	37	X	150912764	150912764	+	Missense_Mutation	SNP	G	G	A	rs369458388		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150912764G>A	ENST00000329903.4	+	6	1822	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	597					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGTCGACGTGCAGGAGAA	0.577																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1789-1791)Gtg>Atg		cyclic nucleotide gated channel alpha 2		G	MET/VAL	1,3834		0,1,1631,571	186.0	144.0	158.0		1789	4.6	0.8	X		158	0,6728		0,0,2428,1872	no	missense	CNGA2	NM_005140.1	21	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	597/665	150912764	1,10562	2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912764G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1789G>A	X.37:g.150912764G>A	ENSP00000328478:p.Val597Met		Somatic					p.V597M	NM_005140.1	NP_005131.1	WXS	Illumina GAIIx	Phase_I	Q16280	CNGA2_HUMAN			6	1822	+	Acute lymphoblastic leukemia(192;6.56e-05)		597					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1789G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	7.894	0.732934	0.15507	2.61E-4	0.0	ENSG00000183862	ENST00000329903	D	0.97642	-4.47	5.47	4.61	0.57282	.	0.179489	0.49916	N	0.000137	D	0.92286	0.7553	L	0.35793	1.09	0.36893	D	0.889997	B	0.30851	0.297	B	0.14023	0.01	D	0.90014	0.4123	10	0.34782	T	0.22	.	7.1849	0.25795	0.0939:0.167:0.7391:0.0	.	597	Q16280	CNGA2_HUMAN	M	597	ENSP00000328478:V597M	ENSP00000328478:V597M	V	+	1	0	CNGA2	150663420	0.950000	0.32346	0.825000	0.32803	0.873000	0.50193	2.180000	0.42537	1.075000	0.40932	-0.176000	0.13171	GTG		0.577	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		5	420	0	0	0	1	0	5	420				
CCDC63	160762	broad.mit.edu	37	12	111318996	111318996	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:111318996G>A	ENST00000308208.5	+	7	991	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	CCDC63_ENST00000552694.1_Missense_Mutation_p.R171Q|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.R210Q	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	250										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGGAGATCCGAGAGCTGGAG	0.557																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(748-750)cGa>cAa		coiled-coil domain containing 63							85.0	73.0	77.0					12																	111318996		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111318996G>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.749G>A	12.37:g.111318996G>A	ENSP00000312399:p.Arg250Gln		Somatic				CCDC63_ENST00000545036.1_Missense_Mutation_p.R210Q|CCDC63_ENST00000552694.1_Missense_Mutation_p.R171Q|CCDC63_ENST00000550317.1_3'UTR	p.R250Q	NM_152591.1	NP_689804.1	WXS	Illumina GAIIx	Phase_I	Q8NA47	CCD63_HUMAN			7	991	+			250					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.749G>A	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882483	0.51908	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.22743	1.94;1.94;1.94	4.65	4.65	0.58169	.	0.692352	0.13636	N	0.373335	T	0.15089	0.0364	L	0.52126	1.63	0.32167	N	0.582115	P	0.38167	0.621	B	0.24974	0.057	T	0.07673	-1.0760	10	0.19590	T	0.45	.	9.2341	0.37455	0.1021:0.0:0.8979:0.0	.	250	Q8NA47	CCD63_HUMAN	Q	210;250;171	ENSP00000445881:R210Q;ENSP00000312399:R250Q;ENSP00000450217:R171Q	ENSP00000312399:R250Q	R	+	2	0	CCDC63	109803379	0.974000	0.33945	0.996000	0.52242	0.993000	0.82548	1.940000	0.40223	2.297000	0.77311	0.505000	0.49811	CGA		0.557	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		9	19	0	0	0	1	0	9	19				
DNAH8	1769	broad.mit.edu	37	6	38793935	38793935	+	Missense_Mutation	SNP	C	C	A	rs562900966		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:38793935C>A	ENST00000359357.3	+	27	3454	c.3200C>A	c.(3199-3201)cCg>cAg	p.P1067Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1284Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1067Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1067					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCATCAGAGCCGATGAAATTG	0.363																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3199-3201)cCg>cAg		dynein, axonemal, heavy chain 8							51.0	48.0	49.0					6																	38793935		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38793935C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3200C>A	6.37:g.38793935C>A	ENSP00000352312:p.Pro1067Gln		Somatic				DNAH8_ENST00000441566.1_Missense_Mutation_p.P1067Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.P1284Q	p.P1067Q			WXS	Illumina GAIIx	Phase_I					27	3454	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3200C>A		.	.	.	.	.	.	.	.	.	.	C	8.463	0.855657	0.17106	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26518	1.8;1.79;1.73	4.97	4.97	0.65823	.	0.347829	0.29900	N	0.010920	T	0.16041	0.0386	L	0.59436	1.845	0.41431	D	0.987865	B	0.27498	0.18	B	0.24269	0.052	T	0.02560	-1.1141	10	0.36615	T	0.2	.	16.4679	0.84090	0.0:1.0:0.0:0.0	.	1067	Q96JB1	DYH8_HUMAN	Q	1272;1272;1067;1067	ENSP00000333363:P1272Q;ENSP00000352312:P1067Q;ENSP00000402294:P1067Q	ENSP00000333363:P1272Q	P	+	2	0	DNAH8	38901913	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	5.853000	0.69496	2.333000	0.79357	0.460000	0.39030	CCG		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	108	1	0	1	1	1	3	108				
THAP4	51078	broad.mit.edu	37	2	242572694	242572694	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:242572694G>A	ENST00000407315.1	-	2	1309	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	293							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGGCTTCTGCGGTGTCGCGGT	0.657																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(877-879)cCg>cTg		THAP domain containing 4							75.0	81.0	79.0					2																	242572694		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242572694G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.878C>T	2.37:g.242572694G>A	ENSP00000385006:p.Pro293Leu		Somatic					p.P293L	NM_015963.5	NP_057047.4	WXS	Illumina GAIIx	Phase_I	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1309	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	293					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.878C>T	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745369	0.49151	.	.	ENSG00000176946	ENST00000407315	D	0.96651	-4.08	5.49	4.62	0.57501	.	0.626642	0.15485	N	0.259863	D	0.90967	0.7160	L	0.29908	0.895	0.80722	D	1	P	0.39940	0.696	B	0.24155	0.051	D	0.90057	0.4153	10	0.52906	T	0.07	-23.3797	12.4696	0.55779	0.0783:0.0:0.9217:0.0	.	293	Q8WY91	THAP4_HUMAN	L	293	ENSP00000385006:P293L	ENSP00000385006:P293L	P	-	2	0	THAP4	242221367	1.000000	0.71417	0.417000	0.26559	0.231000	0.25187	5.653000	0.67967	1.470000	0.48102	0.650000	0.86243	CCG		0.657	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		4	46	0	0	0	1	0	4	46				
TNIP1	10318	broad.mit.edu	37	5	150407073	150407073	+	IGR	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:150407073A>T	ENST00000389378.2	-	0	3268				GPX3_ENST00000388825.4_Missense_Mutation_p.K147I|GPX3_ENST00000517973.1_Missense_Mutation_p.N96Y	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAGCAGAAATTCTACACT	0.537																																						ENST00000388825.4																			0				kidney(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(439-441)aAa>aTa		glutathione peroxidase 3 (plasma)	Glutathione(DB00143)						69.0	70.0	70.0					5																	150407073		1982	4175	6157	SO:0001628	intergenic_variant	2878				hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding	g.chr5:150407073A>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150407073A>T			Somatic				GPX3_ENST00000517973.1_Missense_Mutation_p.N96Y	p.K147I	NM_002084.3	NP_002075.2	WXS	Illumina GAIIx	Phase_I	P22352	GPX3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	532	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	147					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.440A>T	CCDS34280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.14|10.14	1.269609|1.269609	0.23221|0.23221	.|.	.|.	ENSG00000211445|ENSG00000211445	ENST00000388825|ENST00000517973;ENST00000520059	T|.	0.04015|.	3.73|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Thioredoxin-like fold (2);|.	0.185112|.	0.48767|.	D|.	0.000163|.	T|T	0.66616|0.66616	0.2807|0.2807	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	P|.	0.42248|.	0.774|.	P|.	0.57679|.	0.825|.	T|T	0.70335|0.70335	-0.4900|-0.4900	10|6	0.87932|0.87932	D|D	0|0	.|.	9.9593|9.9593	0.41686|0.41686	0.8795:0.0:0.1205:0.0|0.8795:0.0:0.1205:0.0	.|.	147|.	P22352|.	GPX3_HUMAN|.	I|Y	147|96;45	ENSP00000373477:K147I|.	ENSP00000373477:K147I|ENSP00000429709:N96Y	K|N	+|+	2|1	0|0	GPX3|GPX3	150387266|150387266	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	2.191000|2.191000	0.42640|0.42640	2.123000|2.123000	0.65237|0.65237	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.537	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		13	78	0	0	0	1	0	13	78				
GPNMB	10457	broad.mit.edu	37	7	23306177	23306177	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:23306177G>T	ENST00000381990.2	+	7	1257	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y	GPNMB_ENST00000539136.1_Missense_Mutation_p.D255Y|GPNMB_ENST00000258733.4_Missense_Mutation_p.D354Y|GPNMB_ENST00000453162.2_Missense_Mutation_p.D308Y	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	366					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TAGGATTCCTGATGAAAACTG	0.443																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1060-1062)Gat>Tat		glycoprotein (transmembrane) nmb							94.0	83.0	86.0					7																	23306177		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23306177G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1096G>T	7.37:g.23306177G>T	ENSP00000371420:p.Asp366Tyr		Somatic				GPNMB_ENST00000539136.1_Missense_Mutation_p.D255Y|GPNMB_ENST00000453162.2_Missense_Mutation_p.D308Y|GPNMB_ENST00000381990.2_Missense_Mutation_p.D366Y	p.D354Y			WXS	Illumina GAIIx	Phase_I	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		7	1355	+			366	A -> T (in Ref. 3; AAQ89481).				A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1060G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512598	0.27123	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.15139	2.46;2.45;2.45;2.45	5.89	1.87	0.25490	PKD/Chitinase domain (1);	0.720818	0.13525	N	0.381370	T	0.14227	0.0344	L	0.38838	1.175	0.09310	N	1	B;B;B;D	0.53151	0.113;0.065;0.139;0.958	B;B;B;P	0.51135	0.036;0.055;0.025;0.66	T	0.04961	-1.0915	10	0.02654	T	1	-2.6612	5.2947	0.15747	0.2186:0.0:0.64:0.1414	.	255;308;366;354	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	Y	354;401;366;249;255;308	ENSP00000258733:D354Y;ENSP00000371420:D366Y;ENSP00000445266:D255Y;ENSP00000405586:D308Y	ENSP00000258733:D354Y	D	+	1	0	GPNMB	23272702	0.005000	0.15991	0.000000	0.03702	0.049000	0.14656	1.338000	0.33873	0.404000	0.25506	0.650000	0.86243	GAT		0.443	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		8	54	1	0	3.09899e-07	1	3.75877e-07	8	54				
ZNF670	93474	broad.mit.edu	37	1	247200916	247200916	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:247200916T>C	ENST00000366503.2	-	4	1163	c.1005A>G	c.(1003-1005)aaA>aaG	p.K335K		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	335					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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATCCATAAGGTTTCACTCCAG	0.403																																						ENST00000366503.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1003-1005)aaA>aaG		zinc finger protein 670							125.0	125.0	125.0					1																	247200916		2203	4300	6503	SO:0001819	synonymous_variant	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247200916T>C		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.1005A>G	1.37:g.247200916T>C			Somatic					p.K335K	NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	WXS	Illumina GAIIx	Phase_I	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1163	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	335						Silent	SNP	ENST00000366503.2	37	c.1005A>G	CCDS31087.1																																																																																				0.403	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		38	86	0	0	0	1	0	38	86				
HNRNPUL2	221092	broad.mit.edu	37	11	62491447	62491447	+	Silent	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:62491447C>A	ENST00000301785.5	-	3	882	c.690G>T	c.(688-690)ctG>ctT	p.L230L	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.L230L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	230	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCAGGAGGCAGTGGAGACT	0.403																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(688-690)ctG>ctT		heterogeneous nuclear ribonucleoprotein U-like 2							152.0	144.0	147.0					11																	62491447		1954	4156	6110	SO:0001819	synonymous_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62491447C>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.690G>T	11.37:g.62491447C>A			Somatic				RP11-831H9.16_ENST00000403734.2_Silent_p.L230L	p.L230L	NM_001079559.2	NP_001073027.1	WXS	Illumina GAIIx	Phase_I	Q1KMD3	HNRL2_HUMAN			3	882	-			230			B30.2/SPRY.|Glu-rich.		Q8N3B3	Silent	SNP	ENST00000301785.5	37	c.690G>T	CCDS41659.1																																																																																				0.403	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		33	84	1	0	6.2361e-21	1	8.08543e-21	33	84				
MID1IP1	58526	broad.mit.edu	37	X	38664687	38664687	+	Missense_Mutation	SNP	G	G	T	rs199637378		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:38664687G>T	ENST00000336949.6	+	2	1433	c.488G>T	c.(487-489)cGc>cTc	p.R163L	MID1IP1_ENST00000457894.1_Missense_Mutation_p.R163L|MID1IP1_ENST00000378474.3_Missense_Mutation_p.R163L|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	163					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						AAACTCACGCGCAAAGCCAAC	0.617																																						ENST00000336949.6																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(487-489)cGc>cTc		MID1 interacting protein 1							41.0	30.0	34.0					X																	38664687		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664687G>T		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.488G>T	X.37:g.38664687G>T	ENSP00000338706:p.Arg163Leu		Somatic				MID1IP1_ENST00000378474.3_Missense_Mutation_p.R163L|MID1IP1_ENST00000457894.1_Missense_Mutation_p.R163L	p.R163L	NM_021242.4	NP_067065.1	WXS	Illumina GAIIx	Phase_I	Q9NPA3	M1IP1_HUMAN			2	1433	+			163					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.488G>T	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718928	0.30503	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.96	4.09	0.47781	.	0.517119	0.18196	N	0.148674	T	0.46678	0.1405	L	0.33710	1.025	0.50171	D	0.999857	P	0.49862	0.929	P	0.45639	0.488	T	0.31166	-0.9953	9	0.30078	T	0.28	-23.586	14.5295	0.67915	0.0:0.1433:0.8567:0.0	.	163	Q9NPA3	M1IP1_HUMAN	L	163	.	ENSP00000338706:R163L	R	+	2	0	MID1IP1	38549631	0.920000	0.31207	1.000000	0.80357	0.984000	0.73092	2.915000	0.48805	1.074000	0.40909	0.529000	0.55759	CGC		0.617	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			5	48	1	0	1.024e-07	1	1.25825e-07	5	48				
FLG2	388698	broad.mit.edu	37	1	152327047	152327047	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152327047C>T	ENST00000388718.5	-	3	3287	c.3215G>A	c.(3214-3216)cGt>cAt	p.R1072H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGACTGACGTGATCTAGA	0.473																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3214-3216)cGt>cAt		filaggrin family member 2							319.0	317.0	317.0					1																	152327047		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327047C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3215G>A	1.37:g.152327047C>T	ENSP00000373370:p.Arg1072His		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R1072H	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3287	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1072			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3215G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583565	0.28268	.	.	ENSG00000143520	ENST00000388718	T	0.20598	2.06	4.09	2.21	0.28008	.	.	.	.	.	T	0.05090	0.0136	N	0.22421	0.69	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	9	0.45353	T	0.12	.	10.0785	0.42375	0.0:0.8867:0.0:0.1133	.	1072	Q5D862	FILA2_HUMAN	H	1072	ENSP00000373370:R1072H	ENSP00000373370:R1072H	R	-	2	0	FLG2	150593671	0.006000	0.16342	0.006000	0.13384	0.000000	0.00434	-0.368000	0.07543	0.225000	0.20959	-1.247000	0.01520	CGT		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		50	502	0	0	0	1	0	50	502				
LYZL1	84569	broad.mit.edu	37	10	29580865	29580865	+	Silent	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:29580865T>A	ENST00000375500.3	+	2	264	c.207T>A	c.(205-207)acT>acA	p.T69T		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	23					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AAATCTACACTCGTTGCAAAC	0.532																																						ENST00000375500.3																			0				central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(205-207)acT>acA		lysozyme-like 1							54.0	43.0	47.0					10																	29580865		2198	4268	6466	SO:0001819	synonymous_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29580865T>A		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.207T>A	10.37:g.29580865T>A			Somatic					p.T69T	NM_032517.4	NP_115906.3	WXS	Illumina GAIIx	Phase_I	Q6UWQ5	LYZL1_HUMAN			2	264	+		Breast(68;0.203)	23					Q5T921|Q8WW16	Silent	SNP	ENST00000375500.3	37	c.207T>A	CCDS31174.1																																																																																				0.532	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		5	75	0	0	0	1	0	5	75				
SLC23A2	9962	broad.mit.edu	37	20	4864398	4864398	+	Silent	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:4864398T>G	ENST00000379333.1	-	9	1106	c.714A>C	c.(712-714)ctA>ctC	p.L238L	SLC23A2_ENST00000468355.1_5'UTR|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000338244.1_Silent_p.L238L|SLC23A2_ENST00000424750.2_Intron	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	238					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGTACTTCAGTAGAGCCCCAG	0.582																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(712-714)ctA>ctC		solute carrier family 23 (ascorbic acid transporter), member 2							93.0	84.0	87.0					20																	4864398		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4864398T>G	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.714A>C	20.37:g.4864398T>G			Somatic				SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.L238L|SLC23A2_ENST00000424750.2_Intron	p.L238L	NM_203327.1	NP_976072.1	WXS	Illumina GAIIx	Phase_I	Q9UGH3	S23A2_HUMAN			9	1106	-			238					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.714A>C	CCDS13085.1																																																																																				0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			40	77	0	0	0	1	0	40	77				
MLYCD	23417	broad.mit.edu	37	16	83948731	83948731	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:83948731G>C	ENST00000262430.4	+	5	1138	c.1119G>C	c.(1117-1119)gaG>gaC	p.E373D	RP11-505K9.4_ENST00000566309.1_Intron|RP11-505K9.4_ENST00000561562.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	373	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCATTAACGAGACCCTCAAGC	0.567																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1117-1119)gaG>gaC		malonyl-CoA decarboxylase							115.0	122.0	120.0					16																	83948731		2042	4205	6247	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948731G>C	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1119G>C	16.37:g.83948731G>C	ENSP00000262430:p.Glu373Asp		Somatic				RP11-505K9.4_ENST00000561562.1_RNA	p.E373D	NM_012213.2	NP_036345.2	WXS	Illumina GAIIx	Phase_I	O95822	DCMC_HUMAN			5	1138	+			373					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.1119G>C	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004777	0.35320	.	.	ENSG00000103150	ENST00000262430	D	0.90133	-2.62	4.79	1.7	0.24286	.	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.66939	2.045	0.54753	D	0.999984	B	0.15930	0.015	B	0.16289	0.015	T	0.75622	-0.3254	10	0.25751	T	0.34	-40.6302	4.945	0.13985	0.3909:0.1512:0.4579:0.0	.	373	O95822	DCMC_HUMAN	D	373	ENSP00000262430:E373D	ENSP00000262430:E373D	E	+	3	2	MLYCD	82506232	1.000000	0.71417	0.905000	0.35620	0.012000	0.07955	0.630000	0.24553	0.569000	0.29329	0.511000	0.50034	GAG		0.567	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		5	83	0	0	0	1	0	5	83				
ERBB2IP	55914	broad.mit.edu	37	5	65350722	65350722	+	Silent	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:65350722T>A	ENST00000284037.5	+	21	3965	c.3576T>A	c.(3574-3576)gtT>gtA	p.V1192V	ERBB2IP_ENST00000380936.1_Silent_p.V1192V|ERBB2IP_ENST00000380939.2_Silent_p.V1192V|ERBB2IP_ENST00000506030.1_Silent_p.V1192V|ERBB2IP_ENST00000380943.2_Silent_p.V1192V|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Silent_p.V1192V|ERBB2IP_ENST00000380935.1_Silent_p.V1192V|ERBB2IP_ENST00000511297.1_Silent_p.V1188V|ERBB2IP_ENST00000508515.1_Silent_p.V1192V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1192					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAAGTAAAGTTCCTCGTGACT	0.338																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3574-3576)gtT>gtA		erbb2 interacting protein							51.0	52.0	52.0					5																	65350722		2202	4300	6502	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65350722T>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3576T>A	5.37:g.65350722T>A			Somatic				ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Silent_p.V1192V|ERBB2IP_ENST00000506030.1_Silent_p.V1192V|ERBB2IP_ENST00000511297.1_Silent_p.V1188V|ERBB2IP_ENST00000380939.2_Silent_p.V1192V|ERBB2IP_ENST00000380938.2_Silent_p.V1192V|ERBB2IP_ENST00000380943.2_Silent_p.V1192V|ERBB2IP_ENST00000380936.1_Silent_p.V1192V|ERBB2IP_ENST00000380935.1_Silent_p.V1192V	p.V1192V	NM_001253697.1	NP_001240626.1	WXS	Illumina GAIIx	Phase_I	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3965	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1192					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.3576T>A	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	6.016	0.371426	0.11409	.	.	ENSG00000112851	ENST00000511671	.	.	.	5.79	4.76	0.60689	.	.	.	.	.	T	0.54351	0.1853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52495	-0.8568	4	.	.	.	.	4.6495	0.12587	0.0:0.4217:0.0:0.5783	.	.	.	.	T	88	.	.	S	+	1	0	ERBB2IP	65386478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.329000	0.33770	1.023000	0.39654	0.528000	0.53228	TCC		0.338	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		50	73	0	0	0	1	0	50	73				
KIF4A	24137	broad.mit.edu	37	X	69624620	69624620	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:69624620A>G	ENST00000374403.3	+	25	2928	c.2846A>G	c.(2845-2847)gAg>gGg	p.E949G	KIF4A_ENST00000374388.3_Missense_Mutation_p.E949G	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	949	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGCAGTTAGAGGAATCAGTC	0.483																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2845-2847)gAg>gGg		kinesin family member 4A							107.0	76.0	87.0					X																	69624620		2203	4299	6502	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69624620A>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2846A>G	X.37:g.69624620A>G	ENSP00000363524:p.Glu949Gly		Somatic				KIF4A_ENST00000374388.3_Missense_Mutation_p.E949G	p.E949G	NM_012310.4	NP_036442.3	WXS	Illumina GAIIx	Phase_I	O95239	KIF4A_HUMAN			25	2928	+			949			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2846A>G	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419323	0.42918	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69926	-0.44;-0.42	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000015	T	0.59742	0.2216	L	0.56769	1.78	0.45272	D	0.99827	B	0.19706	0.038	B	0.20577	0.03	T	0.55964	-0.8057	9	.	.	.	.	9.4408	0.38668	0.8241:0.1758:0.0:0.0	.	949	O95239	KIF4A_HUMAN	G	949;949;251	ENSP00000363509:E949G;ENSP00000363524:E949G	.	E	+	2	0	KIF4A	69541345	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	3.218000	0.51192	1.889000	0.54706	0.481000	0.45027	GAG		0.483	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		11	29	0	0	0	1	0	11	29				
PSMD13	5719	broad.mit.edu	37	11	251910	251910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:251910C>T	ENST00000532097.1	+	12	1513	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	PSMD13_ENST00000352303.5_Nonsense_Mutation_p.Q310*|PSMD13_ENST00000431206.2_Nonsense_Mutation_p.Q339*|PSMD13_ENST00000532025.1_3'UTR	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	337					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GACCTGGGTGCAGCCCCGAGT	0.502																																						ENST00000532097.1																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10						c.(1009-1011)Cag>Tag		proteasome (prosome, macropain) 26S subunit, non-ATPase, 13							168.0	167.0	167.0					11																	251910		2203	4300	6503	SO:0001587	stop_gained	5719				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr11:251910C>T	AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.1009C>T	11.37:g.251910C>T	ENSP00000436186:p.Gln337*		Somatic				PSMD13_ENST00000352303.5_Nonsense_Mutation_p.Q310*|PSMD13_ENST00000431206.2_Nonsense_Mutation_p.Q339*|PSMD13_ENST00000532025.1_3'UTR	p.Q337*	NM_002817.3	NP_002808.3	WXS	Illumina GAIIx	Phase_I	Q9UNM6	PSD13_HUMAN		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)	12	1513	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	337					B3KT15|O75831|Q53XU2|Q9UNV3	Nonsense_Mutation	SNP	ENST00000532097.1	37	c.1009C>T	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	C	41	9.052015	0.99050	.	.	ENSG00000185627	ENST00000532097;ENST00000538343;ENST00000431206;ENST00000352303	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.2159	0.86944	0.0:1.0:0.0:0.0	.	.	.	.	X	337;272;339;310	.	ENSP00000333811:Q310X	Q	+	1	0	PSMD13	241910	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.185000	0.77714	2.643000	0.89663	0.563000	0.77884	CAG		0.502	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817		4	273	0	0	0	1	0	4	273				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr		Somatic				FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T			WXS	Illumina GAIIx	Phase_I					6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	232	0	0	0	1	0	4	232				
TRBV10-1	28585	broad.mit.edu	37	7	142231643	142231643	+	RNA	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:142231643C>A	ENST00000390364.3	-	0	341									T cell receptor beta variable 10-1(gene/pseudogene)																		AGGGGGAGGTCCTCTGTGTTT	0.532																																						ENST00000390364.3																			0																				118.0	124.0	122.0					7																	142231643		2055	4223	6278			28585							g.chr7:142231643C>A	U17050		7q34	2012-02-07	2008-09-12		ENSG00000211717	ENSG00000211717		"""T cell receptors / TRB locus"""	12177	other	T cell receptor gene			"""T cell receptor beta variable 10-1"""			8650574	Standard	NG_001333		Approved	TRBV101, TCRBV10S1, TCRBV12S2A1T, TCRBV12S2			OTTHUMG00000158514		7.37:g.142231643C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	341	-									RNA	SNP	ENST00000390364.3	37																																																																																						0.532	TRBV10-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351220.2	NG_001333		10	215	1	0	1.76689e-08	1	2.18537e-08	10	215				
POTEE	445582	broad.mit.edu	37	2	132020982	132020982	+	Missense_Mutation	SNP	C	C	T	rs551288353	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:132020982C>T	ENST00000356920.5	+	15	2048	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	652					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TAGTACGTTGCGGGAAGAAAT	0.353													.|||	5	0.000998403	0.0	0.0	5008	,	,		17517	0.001		0.0	False		,,,				2504	0.0041					ENST00000356920.5																			0											c.(1954-1956)Cgg>Tgg		POTE ankyrin domain family, member E							22.0	23.0	23.0					2																	132020982		1919	4149	6068	SO:0001583	missense	445582						ATP binding	g.chr2:132020982C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1954C>T	2.37:g.132020982C>T	ENSP00000439189:p.Arg652Trp		Somatic				POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.R652W	NM_001083538.1	NP_001077007.1	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			15	2048	+			652					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.1954C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.556	0.663697	0.14710	.	.	ENSG00000188219	ENST00000356920	T	0.15603	2.41	0.993	0.993	0.19825	.	.	.	.	.	T	0.13372	0.0324	L	0.38175	1.15	0.09310	N	0.999994	B	0.06786	0.001	B	0.01281	0.0	T	0.25813	-1.0121	9	0.87932	D	0	.	7.8788	0.29610	0.0:1.0:0.0:0.0	.	652	Q6S8J3	POTEE_HUMAN	W	652	ENSP00000439189:R652W	ENSP00000439189:R652W	R	+	1	2	AC131180.1	131737452	0.000000	0.05858	0.330000	0.25442	0.033000	0.12548	-0.061000	0.11693	0.847000	0.35167	0.184000	0.17185	CGG		0.353	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		3	22	0	0	0	1	0	3	22				
NHS	4810	broad.mit.edu	37	X	17745772	17745772	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:17745772G>A	ENST00000380060.3	+	6	3821	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	NHS_ENST00000398097.3_Silent_p.P1005P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1182					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGATTAGGCCGCATACAGCAA	0.408																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3481-3483)ccG>ccA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							120.0	110.0	113.0					X																	17745772		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17745772G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3483G>A	X.37:g.17745772G>A			Somatic				NHS_ENST00000398097.3_Silent_p.P1005P	p.P1161P	NM_198270.2	NP_938011.1	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			6	3821	+	Hepatocellular(33;0.183)		1161					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.3483G>A	CCDS14181.1																																																																																				0.408	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		5	465	0	0	0	1	0	5	465				
CCBE1	147372	broad.mit.edu	37	18	57106799	57106799	+	Silent	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:57106799C>G	ENST00000439986.4	-	9	964	c.927G>C	c.(925-927)ggG>ggC	p.G309G	CCBE1_ENST00000398179.2_Silent_p.G38G	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	309	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TTCCTGGTGCCCCTGGTGGAC	0.408																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(925-927)ggG>ggC		collagen and calcium binding EGF domains 1							173.0	178.0	176.0					18																	57106799		2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57106799C>G	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.927G>C	18.37:g.57106799C>G			Somatic				CCBE1_ENST00000398179.2_Silent_p.G38G	p.G309G	NM_133459.3	NP_597716.1	WXS	Illumina GAIIx	Phase_I	Q6UXH8	CCBE1_HUMAN			9	964	-		Colorectal(73;0.175)	309			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	37	c.927G>C	CCDS32838.1																																																																																				0.408	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		4	348	0	0	0	1	0	4	348				
EFR3A	23167	broad.mit.edu	37	8	132998475	132998475	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:132998475T>A	ENST00000254624.5	+	17	2129	c.1904T>A	c.(1903-1905)tTt>tAt	p.F635Y	EFR3A_ENST00000334503.4_Missense_Mutation_p.F635Y|EFR3A_ENST00000519656.1_Missense_Mutation_p.F599Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	635						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCCCCTTATTTTCTACCAGAG	0.313																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1903-1905)tTt>tAt		EFR3 homolog A (S. cerevisiae)							86.0	84.0	85.0					8																	132998475		2203	4294	6497	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132998475T>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1904T>A	8.37:g.132998475T>A	ENSP00000254624:p.Phe635Tyr		Somatic				EFR3A_ENST00000519656.1_Missense_Mutation_p.F599Y|EFR3A_ENST00000334503.4_Missense_Mutation_p.F635Y	p.F635Y	NM_015137.4	NP_055952.2	WXS	Illumina GAIIx	Phase_I	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		17	2129	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		635					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1904T>A	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753777	0.69648	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000334503;ENST00000519656	T;T;T	0.33216	1.42;1.42;1.42	5.87	5.87	0.94306	.	0.049161	0.85682	D	0.000000	T	0.40619	0.1124	L	0.44542	1.39	0.54753	D	0.999988	P	0.43973	0.823	P	0.52109	0.69	T	0.08973	-1.0696	10	0.40728	T	0.16	-30.7985	15.1203	0.72438	0.0:0.0:0.0:1.0	.	635	Q14156	EFR3A_HUMAN	Y	635;14;635;599	ENSP00000254624:F635Y;ENSP00000334769:F635Y;ENSP00000428086:F599Y	ENSP00000254624:F635Y	F	+	2	0	EFR3A	133067657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.648000	0.74359	2.236000	0.73375	0.528000	0.53228	TTT		0.313	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		11	19	0	0	0	1	0	11	19				
TTC17	55761	broad.mit.edu	37	11	43465114	43465114	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:43465114G>C	ENST00000039989.4	+	17	2505	c.2491G>C	c.(2491-2493)Gat>Cat	p.D831H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D888H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	831					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGAAGTGAAGATGATGAAGC	0.468																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2491-2493)Gat>Cat		tetratricopeptide repeat domain 17							72.0	66.0	68.0					11																	43465114		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43465114G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2491G>C	11.37:g.43465114G>C	ENSP00000039989:p.Asp831His		Somatic				TTC17_ENST00000299240.6_Missense_Mutation_p.D888H|TTC17_ENST00000526774.1_3'UTR	p.D831H	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	Q96AE7	TTC17_HUMAN			17	2505	+			831					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2491G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871518	0.91587	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.53857	0.6;0.85	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.994	T	0.65467	-0.6161	10	0.56958	D	0.05	-20.6377	20.1891	0.98225	0.0:0.0:1.0:0.0	.	888;831;888	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	888;831	ENSP00000299240:D888H;ENSP00000039989:D831H	ENSP00000039989:D831H	D	+	1	0	TTC17	43421690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.979000	0.93455	2.787000	0.95880	0.650000	0.86243	GAT		0.468	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		3	142	0	0	0	1	0	3	142				
KDM5C	8242	broad.mit.edu	37	X	53222170	53222170	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:53222170C>A	ENST00000375401.3	-	26	5194	c.4662G>T	c.(4660-4662)caG>caT	p.Q1554H	KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1553H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1551H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1510H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1554					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCTGAGGCGGCTGCTGTGGGC	0.617			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000375401.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(4660-4662)caG>caT		lysine (K)-specific demethylase 5C							19.0	21.0	20.0					X																	53222170		2190	4269	6459	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53222170C>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4662G>T	X.37:g.53222170C>A	ENSP00000364550:p.Gln1554His		Somatic				KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1551H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1553H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1510H|KDM5C_ENST00000452825.3_Intron	p.Q1554H	NM_004187.3	NP_004178.2	WXS	Illumina GAIIx	Phase_I	P41229	KDM5C_HUMAN			26	5194	-			1554					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.4662G>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	12.68	2.012085	0.35511	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85013	-1.79;-1.79;-1.79;-1.93	4.63	3.72	0.42706	.	0.260090	0.23575	U	0.046713	T	0.79528	0.4461	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.77948	-0.2396	10	0.66056	D	0.02	-11.9094	10.0872	0.42425	0.0:0.802:0.198:0.0	.	1553;1554	B0QZ44;P41229	.;KDM5C_HUMAN	H	1554;1553;1551;1510	ENSP00000364550:Q1554H;ENSP00000385394:Q1553H;ENSP00000364528:Q1551H;ENSP00000364532:Q1510H	ENSP00000364528:Q1551H	Q	-	3	2	KDM5C	53238895	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.510000	0.53393	1.917000	0.55516	0.407000	0.27541	CAG		0.617	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		3	69	1	0	0.00909568	1	0.00994179	3	69				
ANKRD17	26057	broad.mit.edu	37	4	74043222	74043222	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:74043222T>G	ENST00000358602.4	-	2	538	c.422A>C	c.(421-423)gAt>gCt	p.D141A	ANKRD17_ENST00000509867.2_Missense_Mutation_p.D28A|ANKRD17_ENST00000330838.6_Missense_Mutation_p.D141A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	141					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTTCCAAATCATCCTGATC	0.428																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(421-423)gAt>gCt		ankyrin repeat domain 17							83.0	76.0	78.0					4																	74043222		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74043222T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.422A>C	4.37:g.74043222T>G	ENSP00000351416:p.Asp141Ala		Somatic				ANKRD17_ENST00000509867.2_Missense_Mutation_p.D28A|ANKRD17_ENST00000330838.6_Missense_Mutation_p.D141A	p.D141A	NM_032217.3	NP_115593.3	WXS	Illumina GAIIx	Phase_I	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		2	538	-	Breast(15;0.000295)		141					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.422A>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681702	0.88542	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.80566	-1.39;-1.39;-0.38	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	D	0.83760	0.5324	L	0.36672	1.1	0.39841	D	0.973104	B;D;B;B	0.76494	0.04;0.999;0.11;0.349	B;D;B;B	0.77557	0.06;0.99;0.092;0.079	T	0.80621	-0.1301	10	0.15066	T	0.55	.	15.8528	0.78947	0.0:0.0:0.0:1.0	.	141;141;141;28	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	A	141;141;141;28;141	ENSP00000351416:D141A;ENSP00000332265:D141A;ENSP00000427151:D28A	ENSP00000332265:D141A	D	-	2	0	ANKRD17	74262086	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.141000	0.66446	0.482000	0.46254	GAT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		51	100	0	0	0	1	0	51	100				
MBD6	114785	broad.mit.edu	37	12	57918128	57918128	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:57918128G>T	ENST00000355673.3	+	3	398	c.42G>T	c.(40-42)ggG>ggT	p.G14G	MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Silent_p.G14G	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	14	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACAGAGCTGGGGGCCCTGTGG	0.582																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(40-42)ggG>ggT		methyl-CpG binding domain protein 6							67.0	59.0	62.0					12																	57918128		2203	4300	6503	SO:0001819	synonymous_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57918128G>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.42G>T	12.37:g.57918128G>T			Somatic				MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Silent_p.G14G	p.G14G	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			3	398	+			14			MBD.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.42G>T	CCDS8944.1																																																																																				0.582	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			3	40	1	0	0.115264	1	0.121059	3	40				
SPG11	80208	broad.mit.edu	37	15	44853257	44853257	+	IGR	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:44853257A>T	ENST00000261866.7	-	0	7774				EIF3J_ENST00000535391.1_Silent_p.G175G|RP11-151N17.1_ENST00000558006.1_RNA|EIF3J_ENST00000424492.3_Silent_p.G180G|EIF3J_ENST00000261868.5_Silent_p.G229G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGGTTCCTGGAGGGGGATTAA	0.393																																						ENST00000261868.5																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9						c.(685-687)ggA>ggT		eukaryotic translation initiation factor 3, subunit J							195.0	172.0	180.0					15																	44853257		2198	4298	6496	SO:0001628	intergenic_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44853257A>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199		15.37:g.44853257A>T			Somatic				EIF3J_ENST00000424492.3_Silent_p.G180G|EIF3J_ENST00000535391.1_Silent_p.G175G	p.G229G	NM_003758.2	NP_003749.2	WXS	Illumina GAIIx	Phase_I	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	8	825	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	229					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.687A>T	CCDS10112.1																																																																																				0.393	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			82	250	0	0	0	1	0	82	250				
TIAF1	9220	broad.mit.edu	37	17	27400913	27400913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:27400913C>T	ENST00000359450.6	-	1	4962	c.305G>A	c.(304-306)gGt>gAt	p.G102D	MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.G102D|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	102					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATGGTCCAGACCACCTGGACA	0.488																																						ENST00000359450.6																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(304-306)gGt>gAt		TGFB1-induced anti-apoptotic factor 1							161.0	145.0	150.0					17																	27400913		2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27400913C>T	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.305G>A	17.37:g.27400913C>T	ENSP00000352424:p.Gly102Asp		Somatic				TIAF1_ENST00000408971.2_Missense_Mutation_p.G102D|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR	p.G102D	NM_004740.3	NP_004731.2	WXS	Illumina GAIIx	Phase_I	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	4962	-	Lung NSC(42;0.015)		102					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.305G>A	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	C	2.964	-0.213994	0.06101	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.37	2.24	0.28232	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	0.999999	B	0.30973	0.302	B	0.24541	0.054	T	0.14839	-1.0458	8	0.87932	D	0	.	9.1754	0.37109	0.2973:0.5595:0.1432:0.0	.	102	O95411	TIAF1_HUMAN	D	102	.	ENSP00000386130:G102D	G	-	2	0	TIAF1	24425039	0.004000	0.15560	0.090000	0.20809	0.017000	0.09413	-0.169000	0.09911	0.372000	0.24591	0.655000	0.94253	GGT		0.488	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		21	280	0	0	0	1	0	21	280				
OR52I2	143502	broad.mit.edu	37	11	4608123	4608123	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:4608123G>A	ENST00000312614.4	+	1	103	c.81G>A	c.(79-81)atG>atA	p.M27I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTTGTGATGCTGGGTCCAG	0.453																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(79-81)atG>atA		olfactory receptor, family 52, subfamily I, member 2							140.0	130.0	134.0					11																	4608123		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608123G>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.81G>A	11.37:g.4608123G>A	ENSP00000308764:p.Met27Ile		Somatic					p.M27I	NM_001005170.2	NP_001005170.1	WXS	Illumina GAIIx	Phase_I	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	103	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	27					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.81G>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	6.757	0.508465	0.12883	.	.	ENSG00000226288	ENST00000312614	T	0.00594	6.33	3.96	3.02	0.34903	.	0.000000	0.48286	D	0.000195	T	0.00637	0.0021	L	0.49126	1.545	0.30054	N	0.811485	B	0.09022	0.002	B	0.08055	0.003	T	0.30679	-0.9970	10	0.54805	T	0.06	-22.8743	4.6661	0.12666	0.1138:0.0:0.6679:0.2184	.	27	Q8NH67	O52I2_HUMAN	I	27	ENSP00000308764:M27I	ENSP00000308764:M27I	M	+	3	0	OR52I2	4564699	1.000000	0.71417	0.986000	0.45419	0.150000	0.21749	2.826000	0.48104	0.824000	0.34613	0.557000	0.71058	ATG		0.453	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		9	208	0	0	0	1	0	9	208				
ALG11	440138	broad.mit.edu	37	13	52598423	52598423	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:52598423A>T	ENST00000521508.1	+	3	562	c.557A>T	c.(556-558)aAg>aTg	p.K186M	ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	186					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CCTCTGTTTAAGTATATAGGG	0.388																																						ENST00000521508.1																			0				endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(556-558)aAg>aTg		ALG11, alpha-1,2-mannosyltransferase							136.0	130.0	132.0					13																	52598423		2203	4300	6503	SO:0001583	missense	440138							g.chr13:52598423A>T	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.557A>T	13.37:g.52598423A>T	ENSP00000430236:p.Lys186Met		Somatic				ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	p.K186M	NM_001004127.2	NP_001004127.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(99;2.44e-08)	3	562	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	c.557A>T	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997683	0.54147	.	.	ENSG00000253710	ENST00000521508	T	0.80566	-1.39	6.16	4.98	0.66077	.	0.063959	0.64402	U	0.000015	D	0.90659	0.7070	M	0.89840	3.065	0.51233	D	0.999913	D	0.89917	1.0	D	0.72075	0.976	D	0.91789	0.5442	10	0.87932	D	0	.	12.5328	0.56126	0.9353:0.0:0.0647:0.0	.	186	Q2TAA5	ALG11_HUMAN	M	186	ENSP00000430236:K186M	ENSP00000430236:K186M	K	+	2	0	ALG11	51496424	1.000000	0.71417	0.995000	0.50966	0.502000	0.33828	5.739000	0.68622	1.143000	0.42306	0.528000	0.53228	AAG		0.388	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		4	142	0	0	0	1	0	4	142				
RBBP4	5928	broad.mit.edu	37	1	33138433	33138433	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:33138433C>T	ENST00000373493.5	+	11	1302	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	RBBP4_ENST00000373485.1_Silent_p.S381S|RBBP4_ENST00000414241.3_Silent_p.S380S|RBBP4_ENST00000458695.2_Silent_p.S346S|RBBP4_ENST00000544435.1_Silent_p.S129S	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	381					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTGATTTCTCCTGGAATCCCA	0.383																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(1141-1143)tcC>tcT		retinoblastoma binding protein 4							94.0	93.0	93.0					1																	33138433		2203	4300	6503	SO:0001819	synonymous_variant	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33138433C>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1143C>T	1.37:g.33138433C>T			Somatic				RBBP4_ENST00000414241.3_Silent_p.S380S|RBBP4_ENST00000458695.2_Silent_p.S346S|RBBP4_ENST00000373485.1_Silent_p.S381S|RBBP4_ENST00000544435.1_Silent_p.S129S	p.S381S	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	WXS	Illumina GAIIx	Phase_I	Q09028	RBBP4_HUMAN			11	1302	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	381					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	c.1143C>T	CCDS366.1	.	.	.	.	.	.	.	.	.	.	C	9.619	1.133394	0.21041	.	.	ENSG00000162521	ENST00000463378	.	.	.	4.84	0.768	0.18487	.	.	.	.	.	T	0.42471	0.1204	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21415	-1.0246	4	.	.	.	.	1.75	0.02970	0.1432:0.4821:0.139:0.2356	.	.	.	.	L	141	.	.	P	+	2	0	RBBP4	32911020	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	0.842000	0.27627	-0.041000	0.13558	-0.218000	0.12543	CCT		0.383	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		9	73	0	0	0	1	0	9	73				
ACVR1C	130399	broad.mit.edu	37	2	158395204	158395204	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:158395204C>T	ENST00000243349.8	-	8	1597	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ACVR1C_ENST00000348328.5_Missense_Mutation_p.E256K|ACVR1C_ENST00000409680.3_Missense_Mutation_p.E363K|ACVR1C_ENST00000335450.7_Missense_Mutation_p.E333K	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AATTGGTACTCCTCAACAATT	0.338																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1237-1239)Gag>Aag		activin A receptor, type IC							87.0	86.0	86.0					2																	158395204		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158395204C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1237G>A	2.37:g.158395204C>T	ENSP00000243349:p.Glu413Lys		Somatic				ACVR1C_ENST00000335450.7_Missense_Mutation_p.E333K|ACVR1C_ENST00000348328.5_Missense_Mutation_p.E256K|ACVR1C_ENST00000409680.3_Missense_Mutation_p.E363K	p.E413K	NM_145259.2	NP_660302.2	WXS	Illumina GAIIx	Phase_I	Q8NER5	ACV1C_HUMAN			8	1597	-			413			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1237G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499857	0.96355	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115270	0.38217	N	0.001762	D	0.95723	0.8609	M	0.71036	2.16	0.80722	D	1	D;P;P	0.54772	0.968;0.892;0.576	P;P;P	0.56960	0.81;0.551;0.457	D	0.95969	0.8968	10	0.87932	D	0	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	256;333;413	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	K	413;363;256;333	ENSP00000243349:E413K;ENSP00000387168:E363K;ENSP00000335139:E256K;ENSP00000335178:E333K	ENSP00000243349:E413K	E	-	1	0	ACVR1C	158103450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.590000	0.87494	0.650000	0.86243	GAG		0.338	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		14	102	0	0	0	1	0	14	102				
OR10J5	127385	broad.mit.edu	37	1	159505525	159505525	+	Silent	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:159505525A>G	ENST00000334857.2	-	1	317	c.273T>C	c.(271-273)ccT>ccC	p.P91P		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CCAAGGAGATAGGTTGGTTAT	0.443																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(271-273)ccT>ccC		olfactory receptor, family 10, subfamily J, member 5							139.0	119.0	126.0					1																	159505525		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505525A>G		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.273T>C	1.37:g.159505525A>G			Somatic					p.P91P	NM_001004469.1	NP_001004469.1	WXS	Illumina GAIIx	Phase_I	Q8NHC4	O10J5_HUMAN			1	317	-	all_hematologic(112;0.0429)		91					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.273T>C	CCDS30910.1																																																																																				0.443	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		133	200	0	0	0	1	0	133	200				
C2	717	broad.mit.edu	37	6	31902109	31902109	+	Intron	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:31902109C>A	ENST00000299367.5	+	6	1125				C2_ENST00000418949.2_Silent_p.G294G|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GCAGCAGAGGCCTTCCTGTGC	0.537																																						ENST00000418949.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(880-882)ggC>ggA		complement component 2							93.0	88.0	90.0					6																	31902109		2203	4300	6503	SO:0001627	intron_variant	717							g.chr6:31902109C>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.849+33C>A	6.37:g.31902109C>A			Somatic				C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000456570.1_Intron	p.G294G			WXS	Illumina GAIIx	Phase_I				LUAD - Lung adenocarcinoma(999;0.247)	6	932	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.882C>A	CCDS4728.1																																																																																				0.537	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			4	87	1	0	0.014758	1	0.0159454	4	87				
MCM8	84515	broad.mit.edu	37	20	5933143	5933143	+	Silent	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:5933143A>C	ENST00000378896.3	+	3	599	c.222A>C	c.(220-222)ccA>ccC	p.P74P	MCM8_ENST00000378886.2_Silent_p.P74P|TRMT6_ENST00000453074.2_5'Flank|TRMT6_ENST00000203001.2_5'Flank|MCM8_ENST00000378883.1_Silent_p.P74P|MCM8_ENST00000265187.4_Silent_p.P74P|TRMT6_ENST00000473131.1_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	74					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATTCATACCATATAAAGGCT	0.343																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(220-222)ccA>ccC		minichromosome maintenance complex component 8							98.0	111.0	107.0					20																	5933143		2203	4299	6502	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5933143A>C	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.222A>C	20.37:g.5933143A>C			Somatic				MCM8_ENST00000378886.2_Silent_p.P74P|MCM8_ENST00000378883.1_Silent_p.P74P|MCM8_ENST00000265187.4_Silent_p.P74P	p.P74P	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	WXS	Illumina GAIIx	Phase_I	Q9UJA3	MCM8_HUMAN			3	599	+			74					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.222A>C	CCDS13094.1																																																																																				0.343	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		16	139	0	0	0	1	0	16	139				
SPOP	8405	broad.mit.edu	37	17	47688691	47688691	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:47688691G>C	ENST00000393328.2	-	7	974	c.609C>G	c.(607-609)tgC>tgG	p.C203W	SPOP_ENST00000347630.2_Missense_Mutation_p.C203W|SPOP_ENST00000504102.1_Missense_Mutation_p.C203W|SPOP_ENST00000393331.3_Missense_Mutation_p.C203W|SPOP_ENST00000503676.1_Missense_Mutation_p.C203W	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	203	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAACACACAAGCAGCAGTCTG	0.458										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(607-609)tgC>tgG		speckle-type POZ protein							120.0	125.0	123.0					17																	47688691		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47688691G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.609C>G	17.37:g.47688691G>C	ENSP00000377001:p.Cys203Trp	Prostate(2;0.17)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.C203W|SPOP_ENST00000393328.2_Missense_Mutation_p.C203W|SPOP_ENST00000347630.2_Missense_Mutation_p.C203W|SPOP_ENST00000504102.1_Missense_Mutation_p.C203W	p.C203W	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			8	1079	-			203			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.609C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398736	0.62177	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.46	3.29	0.37713	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.052151	0.85682	D	0.000000	T	0.67571	0.2907	L	0.47016	1.485	0.80722	D	1	D	0.64830	0.994	P	0.57502	0.822	T	0.68667	-0.5348	10	0.87932	D	0	-12.3651	5.9729	0.19363	0.3763:0.0:0.6237:0.0	.	203	O43791	SPOP_HUMAN	W	203;203;203;203;87;203;156;203;203	ENSP00000377001:C203W;ENSP00000377004:C203W;ENSP00000240327:C203W;ENSP00000425905:C203W;ENSP00000420908:C203W;ENSP00000426986:C203W;ENSP00000420960:C203W	ENSP00000240327:C203W	C	-	3	2	SPOP	45043690	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	0.239000	0.18023	1.311000	0.45024	0.591000	0.81541	TGC		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		5	259	0	0	0	1	0	5	259				
PKD2	5311	broad.mit.edu	37	4	88983082	88983082	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:88983082G>A	ENST00000508588.1	+	5	693	c.298G>A	c.(298-300)Gat>Aat	p.D100N	PKD2_ENST00000237596.2_Missense_Mutation_p.D682N|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.D100N			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TATCATCAATGATACTTACTC	0.323																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2044-2046)Gat>Aat		polycystic kidney disease 2 (autosomal dominant)							95.0	99.0	98.0					4																	88983082		2203	4299	6502	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88983082G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.298G>A	4.37:g.88983082G>A	ENSP00000427131:p.Asp100Asn		Somatic				PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.D100N|PKD2_ENST00000502363.1_Missense_Mutation_p.D100N	p.D682N	NM_000297.3	NP_000288.1	WXS	Illumina GAIIx	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	10	2110	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	682					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2044G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.467596	0.96257	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.72051	-0.62;-0.62;-0.62	5.65	5.65	0.86999	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.86418	0.5928	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.87911	0.2697	10	0.87932	D	0	-23.5889	19.7221	0.96147	0.0:0.0:1.0:0.0	.	682	Q13563	PKD2_HUMAN	N	682;100;100	ENSP00000237596:D682N;ENSP00000427131:D100N;ENSP00000425289:D100N	ENSP00000237596:D682N	D	+	1	0	PKD2	89202106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.622000	0.98378	2.657000	0.90304	0.650000	0.86243	GAT		0.323	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		5	119	0	0	0	1	0	5	119				
DGKK	139189	broad.mit.edu	37	X	50129521	50129521	+	RNA	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:50129521T>A	ENST00000376025.2	-	0	2241							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCAGCAGAAGTAGCTGCTGCC	0.458																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							122.0	101.0	108.0					X																	50129521		2067	4194	6261			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50129521T>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50129521T>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q5KSL6	DGKK_HUMAN			0	2241	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		60	125	0	0	0	1	0	60	125				
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	500					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1498-1500)aCa>aAa		zinc finger protein 623							77.0	77.0	77.0					8																	144733541		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733541C>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1499C>A	8.37:g.144733541C>A	ENSP00000445979:p.Thr500Lys		Somatic				ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	p.T500K	NM_014789.3	NP_055604.3	WXS	Illumina GAIIx	Phase_I	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1588	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		500					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1499C>A	CCDS34957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.25|11.25	1.581994|1.581994	0.28180|0.28180	.|.	.|.	ENSG00000183309|ENSG00000183309	ENST00000328466|ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748	.|T;T;T	.|0.60424	.|0.19;0.19;0.19	4.3|4.3	3.4|3.4	0.38934|0.38934	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.35038|0.35038	0.0918|0.0918	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.14023	.|0.01	T|T	0.09684|0.09684	-1.0663|-1.0663	6|8	0.72032|.	D|.	0.01|.	-1.5887|-1.5887	7.2014|7.2014	0.25883|0.25883	0.0:0.7908:0.0:0.2092|0.0:0.7908:0.0:0.2092	.|.	.|500	.|O75123	.|ZN623_HUMAN	K|K	460|460;460;500;500	.|ENSP00000435232:T460K;ENSP00000411139:T460K;ENSP00000445979:T500K	ENSP00000330358:Q460K|.	Q|T	+|+	1|2	0|0	ZNF623|ZNF623	144804684|144804684	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.029000|0.029000	0.11900|0.11900	1.225000|1.225000	0.32551|0.32551	2.115000|2.115000	0.64714|0.64714	0.491000|0.491000	0.48974|0.48974	CAA|ACA		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		4	298	1	0	0.00909568	1	0.00994179	4	298				
PCDHA13	56136	broad.mit.edu	37	5	140262083	140262083	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:140262083T>A	ENST00000289272.2	+	1	230	c.230T>A	c.(229-231)gTa>gAa	p.V77E	PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V77E|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGGAGGTAAATCTGCAG	0.622																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(229-231)gTa>gAa									81.0	92.0	88.0					5																	140262083		2203	4292	6495	SO:0001583	missense	56136							g.chr5:140262083T>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.230T>A	5.37:g.140262083T>A	ENSP00000289272:p.Val77Glu		Somatic				PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V77E|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron	p.V77E	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	230	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.230T>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949576	0.73787	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.43294	0.95;0.95	5.54	5.54	0.83059	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77877	0.4196	H	0.98314	4.2	0.34394	D	0.694493	P;P;P	0.51240	0.906;0.936;0.943	P;D;P	0.67548	0.724;0.952;0.564	D	0.90304	0.4332	9	0.87932	D	0	.	15.3906	0.74741	0.0:0.0:0.0:1.0	.	77;77;77	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	77	ENSP00000386821:V77E;ENSP00000289272:V77E	ENSP00000289272:V77E	V	+	2	0	PCDHA13	140242267	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.860000	0.69546	2.114000	0.64651	0.454000	0.30748	GTA		0.622	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		41	182	0	0	0	1	0	41	182				
SLC13A2	9058	broad.mit.edu	37	17	26818764	26818764	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:26818764G>A	ENST00000314669.5	+	6	1192	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	SLC13A2_ENST00000537681.1_Missense_Mutation_p.G187S|SLC13A2_ENST00000545060.1_Missense_Mutation_p.G215S|SLC13A2_ENST00000444914.3_Missense_Mutation_p.G307S	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	258					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.G258S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCCCAAAACGGCAACGTGGT	0.597																																						ENST00000444914.3																			1	Substitution - Missense(1)	p.G258S(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(919-921)Ggc>Agc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						161.0	138.0	146.0					17																	26818764		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26818764G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.772G>A	17.37:g.26818764G>A	ENSP00000316202:p.Gly258Ser		Somatic				SLC13A2_ENST00000545060.1_Missense_Mutation_p.G215S|SLC13A2_ENST00000314669.5_Missense_Mutation_p.G258S|SLC13A2_ENST00000537681.1_Missense_Mutation_p.G187S	p.G307S	NM_001145975.1	NP_001139447.1	WXS	Illumina GAIIx	Phase_I	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	6	1339	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		258					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.919G>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778259	0.16120	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	5.52	-3.14	0.05250	.	1.067880	0.07043	N	0.830449	T	0.03434	0.0099	L	0.45285	1.41	0.09310	N	1	P;B;B;P;B	0.34892	0.468;0.094;0.053;0.474;0.053	B;B;B;B;B	0.25405	0.04;0.053;0.06;0.036;0.037	T	0.46303	-0.9201	10	0.12103	T	0.63	-26.0201	6.92	0.24383	0.1311:0.4086:0.3797:0.0806	.	215;307;214;187;258	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	S	258;307;215;214;187	ENSP00000316202:G258S;ENSP00000392411:G307S;ENSP00000441935:G215S;ENSP00000440802:G187S	ENSP00000316202:G258S	G	+	1	0	SLC13A2	23842891	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	0.235000	0.17948	-0.293000	0.08986	0.557000	0.71058	GGC		0.597	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		3	67	0	0	0	1	0	3	67				
BIRC6	57448	broad.mit.edu	37	2	32664671	32664671	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:32664671G>T	ENST00000421745.2	+	16	3861	c.3727G>T	c.(3727-3729)Gta>Tta	p.V1243L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1243					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATGCGTCCTGTAGTAAGGCT	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(3727-3729)Gta>Tta		baculoviral IAP repeat containing 6							123.0	101.0	108.0					2																	32664671		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32664671G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3727G>T	2.37:g.32664671G>T	ENSP00000393596:p.Val1243Leu		Somatic					p.V1243L	NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			16	3861	+	Acute lymphoblastic leukemia(172;0.155)		1243					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.3727G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912243	0.92178	.	.	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.74002	-0.8	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.65964	0.2742	N	0.25647	0.755	0.52501	D	0.999951	B	0.23316	0.083	B	0.21917	0.037	T	0.60125	-0.7324	10	0.35671	T	0.21	.	19.5729	0.95428	0.0:0.0:1.0:0.0	.	1243	Q9NR09	BIRC6_HUMAN	L	1243;129	ENSP00000393596:V1243L	ENSP00000393596:V1243L	V	+	1	0	BIRC6	32518175	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.546000	0.73887	2.684000	0.91462	0.650000	0.86243	GTA		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		4	93	1	0	0.000602214	1	0.000682026	4	93				
CCNB2	9133	broad.mit.edu	37	15	59409486	59409486	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:59409486T>C	ENST00000288207.2	+	7	1085	c.894T>C	c.(892-894)taT>taC	p.Y298Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	298					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCATCGACTATGATATGGTGC	0.423																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(892-894)taT>taC		cyclin B2							133.0	119.0	124.0					15																	59409486		2191	4291	6482	SO:0001819	synonymous_variant	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59409486T>C	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.894T>C	15.37:g.59409486T>C			Somatic				CCNB2_ENST00000559622.1_Intron	p.Y298Y	NM_004701.3	NP_004692.1	WXS	Illumina GAIIx	Phase_I	O95067	CCNB2_HUMAN			7	1085	+			298					B3KM93|Q6FI99	Silent	SNP	ENST00000288207.2	37	c.894T>C	CCDS10170.1																																																																																				0.423	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		11	319	0	0	0	1	0	11	319				
GFRA3	2676	broad.mit.edu	37	5	137593617	137593617	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:137593617C>A	ENST00000274721.3	-	4	742	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	GFRA3_ENST00000378362.3_Missense_Mutation_p.A135S	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	166					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.A166T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACAGCATGGCAAACTTGAGG	0.652																																						ENST00000274721.3																			1	Substitution - Missense(1)	p.A166T(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(496-498)Gcc>Tcc		GDNF family receptor alpha 3							35.0	37.0	36.0					5																	137593617		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137593617C>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.496G>T	5.37:g.137593617C>A	ENSP00000274721:p.Ala166Ser		Somatic				GFRA3_ENST00000378362.3_Missense_Mutation_p.A135S	p.A166S	NM_001496.3	NP_001487.2	WXS	Illumina GAIIx	Phase_I	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	742	-			166					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.496G>T	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379804	0.42207	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.63913	-0.07;-0.07	5.12	3.05	0.35203	GDNF/GAS1 (2);	0.248788	0.40818	N	0.001001	T	0.65954	0.2741	M	0.81682	2.555	0.32068	N	0.594822	B;P	0.43826	0.143;0.818	B;P	0.48921	0.286;0.595	T	0.70799	-0.4774	10	0.45353	T	0.12	-12.142	5.0676	0.14591	0.0:0.6973:0.0:0.3027	.	135;166	O60609-2;O60609	.;GFRA3_HUMAN	S	166;135	ENSP00000274721:A166S;ENSP00000367613:A135S	ENSP00000274721:A166S	A	-	1	0	GFRA3	137621516	0.817000	0.29147	0.983000	0.44433	0.072000	0.16883	0.881000	0.28173	1.163000	0.42636	-0.140000	0.14226	GCC		0.652	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		3	70	1	0	1	1	1	3	70				
DUSP26	78986	broad.mit.edu	37	8	33449703	33449703	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:33449703C>G	ENST00000256261.4	-	4	981	c.464G>C	c.(463-465)gGc>gCc	p.G155A	DUSP26_ENST00000523956.1_Missense_Mutation_p.G155A	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	155	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCGGCTCACGCCCACAGCACA	0.577																																						ENST00000256261.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15						c.(463-465)gGc>gCc		dual specificity phosphatase 26 (putative)							93.0	68.0	77.0					8																	33449703		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33449703C>G	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.464G>C	8.37:g.33449703C>G	ENSP00000256261:p.Gly155Ala		Somatic				DUSP26_ENST00000523956.1_Missense_Mutation_p.G155A	p.G155A	NM_024025.1	NP_076930.1	WXS	Illumina GAIIx	Phase_I	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	4	981	-			155			Tyrosine-protein phosphatase.		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.464G>C	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431466	0.83776	.	.	ENSG00000133878	ENST00000256261;ENST00000523956	D;D	0.97066	-4.23;-4.23	4.69	4.69	0.59074	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.99911	4.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97983	1.0350	10	0.87932	D	0	-23.6961	17.5581	0.87898	0.0:1.0:0.0:0.0	.	155	Q9BV47	DUS26_HUMAN	A	155	ENSP00000256261:G155A;ENSP00000429176:G155A	ENSP00000256261:G155A	G	-	2	0	DUSP26	33569245	1.000000	0.71417	0.973000	0.42090	0.741000	0.42261	7.731000	0.84895	2.322000	0.78497	0.549000	0.68633	GGC		0.577	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		13	15	0	0	0	1	0	13	15				
NFATC3	4775	broad.mit.edu	37	16	68160421	68160421	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:68160421G>A	ENST00000346183.3	+	3	1333	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	NFATC3_ENST00000575270.1_Missense_Mutation_p.V437M|NFATC3_ENST00000329524.4_Missense_Mutation_p.V437M|NFATC3_ENST00000349223.5_Missense_Mutation_p.V437M|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	437	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAAAATAGAAGTGCAACCTAA	0.433																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1309-1311)Gtg>Atg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							148.0	119.0	129.0					16																	68160421		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68160421G>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1309G>A	16.37:g.68160421G>A	ENSP00000300659:p.Val437Met		Somatic				NFATC3_ENST00000329524.4_Missense_Mutation_p.V437M|NFATC3_ENST00000346183.3_Missense_Mutation_p.V437M|NFATC3_ENST00000575270.1_Missense_Mutation_p.V437M|NFATC3_ENST00000535127.2_3'UTR	p.V437M	NM_173163.2	NP_775186.1	WXS	Illumina GAIIx	Phase_I	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	3	1533	+		Ovarian(137;0.0563)	437			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1309G>A	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016887	0.75161	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.44083	0.93;0.93;0.93	5.34	4.38	0.52667	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.058072	0.64402	D	0.000002	T	0.51991	0.1707	L	0.34521	1.04	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.989;0.998;0.998	T	0.52139	-0.8615	10	0.54805	T	0.06	-4.3895	13.4044	0.60903	0.0757:0.0:0.9243:0.0	.	437;437;437;437	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	M	437	ENSP00000264008:V437M;ENSP00000300659:V437M;ENSP00000331324:V437M	ENSP00000331324:V437M	V	+	1	0	NFATC3	66717922	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.576000	0.74023	2.500000	0.84329	0.555000	0.69702	GTG		0.433	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		46	76	0	0	0	1	0	46	76				
TMIGD1	388364	broad.mit.edu	37	17	28651878	28651878	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:28651878G>C	ENST00000328886.4	-	4	668	c.596C>G	c.(595-597)tCa>tGa	p.S199*	TMIGD1_ENST00000538566.2_Nonsense_Mutation_p.S199*	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	199	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTTCAGAGATGACTTTGCAAT	0.428																																						ENST00000328886.4																			0				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						c.(595-597)tCa>tGa		transmembrane and immunoglobulin domain containing 1							132.0	128.0	129.0					17																	28651878		2203	4300	6503	SO:0001587	stop_gained	388364					integral to membrane		g.chr17:28651878G>C	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.596C>G	17.37:g.28651878G>C	ENSP00000332404:p.Ser199*		Somatic				TMIGD1_ENST00000538566.2_Nonsense_Mutation_p.S199*	p.S199*	NM_206832.1	NP_996663.1	WXS	Illumina GAIIx	Phase_I	Q6UXZ0	TMIG1_HUMAN			4	668	-			199			Ig-like C2-type 2.		A8K2K1|Q6ZMC6	Nonsense_Mutation	SNP	ENST00000328886.4	37	c.596C>G	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188464	0.38609	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	.	.	.	5.69	3.69	0.42338	.	0.402073	0.27586	N	0.018712	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.2829	9.3069	0.37881	0.2209:0.0:0.7791:0.0	.	.	.	.	X	199	.	ENSP00000332404:S199X	S	-	2	0	TMIGD1	25676004	0.498000	0.26075	0.111000	0.21465	0.200000	0.23975	1.674000	0.37544	1.410000	0.46936	0.655000	0.94253	TCA		0.428	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		14	242	0	0	0	1	0	14	242				
FZD2	2535	broad.mit.edu	37	17	42636477	42636477	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:42636477C>A	ENST00000315323.3	+	1	1553	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	474					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGCCCGCCACCATCGTCATC	0.632																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1420-1422)aCc>aAc		frizzled family receptor 2							73.0	59.0	64.0					17																	42636477		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636477C>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1421C>A	17.37:g.42636477C>A	ENSP00000323901:p.Thr474Asn		Somatic					p.T474N	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1553	+		Prostate(33;0.0181)	474					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1421C>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.290893	0.80914	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.82711	-1.64	5.2	5.2	0.72013	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.91090	3.175	0.80722	D	1	D	0.64830	0.994	D	0.63597	0.916	D	0.94082	0.7345	10	0.72032	D	0.01	.	18.4133	0.90559	0.0:1.0:0.0:0.0	.	474	Q14332	FZD2_HUMAN	N	550;474	ENSP00000323901:T474N	ENSP00000323901:T474N	T	+	2	0	FZD2	39992003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.432000	0.82394	0.555000	0.69702	ACC		0.632	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		8	30	1	0	3.86212e-05	1	4.53799e-05	8	30				
PATL1	219988	broad.mit.edu	37	11	59425092	59425092	+	Missense_Mutation	SNP	T	T	C	rs375423950		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:59425092T>C	ENST00000300146.9	-	5	616	c.532A>G	c.(532-534)Act>Gct	p.T178A		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	178	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATAGGTGAAGTTGACCGCCTT	0.527																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(532-534)Act>Gct		protein associated with topoisomerase II homolog 1 (yeast)		T	ALA/THR	0,3818		0,0,1909	125.0	118.0	120.0		532	5.6	0.5	11		120	1,8239		0,1,4119	no	missense	PATL1	NM_152716.2	58	0,1,6028	CC,CT,TT		0.0121,0.0,0.0083	possibly-damaging	178/771	59425092	1,12057	1909	4120	6029	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425092T>C	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.532A>G	11.37:g.59425092T>C	ENSP00000300146:p.Thr178Ala		Somatic					p.T178A	NM_152716.2	NP_689929.2	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			5	616	-			178			Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.532A>G	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834080	0.32421	0.0	1.21E-4	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.45276	0.9	5.64	5.64	0.86602	.	0.177262	0.47852	D	0.000212	T	0.33527	0.0866	L	0.43152	1.355	0.37533	D	0.918013	B;B	0.25351	0.102;0.124	B;B	0.31016	0.075;0.123	T	0.20739	-1.0266	10	0.08599	T	0.76	-15.6315	10.5912	0.45310	0.1806:0.0:0.0:0.8194	.	178;178	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	A	178	ENSP00000300146:T178A	ENSP00000300146:T178A	T	-	1	0	PATL1	59181668	0.997000	0.39634	0.542000	0.28115	0.998000	0.95712	3.188000	0.50958	2.144000	0.66660	0.533000	0.62120	ACT		0.527	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		67	120	0	0	0	1	0	67	120				
GRID2	2895	broad.mit.edu	37	4	94031946	94031946	+	Missense_Mutation	SNP	A	A	G	rs61745072	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:94031946A>G	ENST00000282020.4	+	4	835	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	GRID2_ENST00000510992.1_Missense_Mutation_p.M98V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	193					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCAGCAGGGAATGGATGTTGC	0.393													A|||	8	0.00159744	0.0061	0.0	5008	,	,		19679	0.0		0.0	False		,,,				2504	0.0					ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(577-579)Atg>Gtg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)	A	VAL/MET	10,4396	16.8+/-37.8	0,10,2193	161.0	164.0	163.0		577	5.5	1.0	4	dbSNP_129	163	0,8600		0,0,4300	yes	missense	GRID2	NM_001510.2	21	0,10,6493	GG,GA,AA		0.0,0.227,0.0769	benign	193/1008	94031946	10,12996	2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94031946A>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.577A>G	4.37:g.94031946A>G	ENSP00000282020:p.Met193Val		Somatic				GRID2_ENST00000510992.1_Missense_Mutation_p.M98V|GRID2_ENST00000505687.1_3'UTR	p.M193V	NM_001510.2	NP_001501.2	WXS	Illumina GAIIx	Phase_I	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	4	835	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	193					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.577A>G	CCDS3637.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	13.74	2.326094	0.41197	0.00227	0.0	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.85411	-1.84;-1.98	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	N	0.19112	0.55	0.49051	D	0.999742	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.70669	-0.4808	10	0.51188	T	0.08	.	15.8909	0.79296	1.0:0.0:0.0:0.0	rs61745072	98;193;134	E9PH24;O43424;B4DYB9	.;GRID2_HUMAN;.	V	193;98	ENSP00000282020:M193V;ENSP00000421257:M98V	ENSP00000282020:M193V	M	+	1	0	GRID2	94250969	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.025000	0.57225	2.213000	0.71641	0.533000	0.62120	ATG		0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			12	149	0	0	0	1	0	12	149				
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs		Somatic				LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs	p.H937fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		10	378						10	378	---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG	rs372937970	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:89448604_89448605insGG	ENST00000321792.5	-	2	1332_1333	c.905_906insCC	c.(904-906)ccafs	p.P302fs	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Frame_Shift_Ins_p.P302fs	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CACCATAAGATGGCGGGGGCCC	0.475																																						ENST00000399794.2																			0											c.(904-906)ctcfs		RNA binding motif protein, X-linked-like 1																																				SO:0001589	frameshift_variant	494115						nucleotide binding|RNA binding	g.chr1:89448604_89448605insGG	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.904_905dupCC	1.37:g.89448605_89448606dupGG	ENSP00000318415:p.Pro302fs		Somatic				RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron	p.L302fs	NM_001162536.2	NP_001156008.1	WXS	Illumina GAIIx	Phase_I	Q96E39	RBMXL_HUMAN			3	1620_1621	-			302			Ser-rich.			Frame_Shift_Ins	INS	ENST00000321792.5	37	c.905_906insCC	CCDS716.1																																																																																				0.475	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		8	333						8	333	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279034	152279035	+	In_Frame_Ins	INS	-	-	TGC			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152279034_152279035insTGC	ENST00000368799.1	-	3	8362_8363	c.8327_8328insGCA	c.(8326-8328)cac>caGCAc	p.2775_2776insQ	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2775	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGATGCTGAGTGCCTGGAGCT	0.589									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8326-8328)ctc>cGCAtc		filaggrin																																				SO:0001652	inframe_insertion	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279034_152279035insTGC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8325_8327dupGCA	1.37:g.152279035_152279037dupTGC	ENSP00000357789:p.Arg2775_His2776insGln		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.2776_2776L>RI	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8362_8363	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2776			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Ins	INS	ENST00000368799.1	37	c.8327_8328insGCA	CCDS30860.1																																																																																				0.589	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	481						12	481	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210559316	210559317	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:210559316_210559317insA	ENST00000360351.4	+	7	2928_2929	c.2422_2423insA	c.(2422-2424)gaafs	p.E808fs	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Frame_Shift_Ins_p.E804fs	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	808					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGACCTTCCTGAAATGCTAGAT	0.465																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2422-2424)aatfs		microtubule-associated protein 2	Estramustine(DB01196)																																			SO:0001589	frameshift_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559316_210559317insA		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2425dupA	2.37:g.210559319_210559319dupA	ENSP00000353508:p.Glu808fs		Somatic				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Frame_Shift_Ins_p.N804fs|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.N808fs	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2928_2929	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	808					Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Ins	INS	ENST00000360351.4	37	c.2422_2423insA	CCDS2384.1																																																																																				0.465	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		18	187						18	187	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	lincRNA	INS	-	-	AAA	rs71401156|rs59472818	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:217475031_217475032insAAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376																																						ENST00000441803.1																			0																																																			0							g.chr2:217475031_217475032insAAA																													2.37:g.217475038_217475040dupAAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	195	+									RNA	INS	ENST00000441803.1	37																																																																																						0.376	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			4	6						4	6	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	247254	247255	+	RNA	DEL	TA	TA	-	rs139373828|rs535526044	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:247254_247255delTA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTGTATAAGTATATATATATT	0.287														1478	0.295128	0.3759	0.3314	5008	,	,		16713	0.1518		0.2207	False		,,,				2504	0.3845					ENST00000356347.3																			0																																																			642280							g.chr4:247254_247255delTA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.247262_247263delTA			Somatic						NR_027481.1		WXS	Illumina GAIIx	Phase_I					0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.287	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		4	2						4	2	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)gggaaafs	p.K1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.K1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3811-3816)ggaatcfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125590618_125590619insC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3814dupG	4.37:g.125590624_125590624dupC	ENSP00000425658:p.Lys1272fs		Somatic				ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	p.I1272fs	NM_020337.2	NP_065070.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ7	ANR50_HUMAN			4	4850_4851	-			1272			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.3813_3814insG	CCDS34060.1																																																																																				0.391	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		10	450						10	450	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496635	15496636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:15496635_15496636insG	ENST00000341776.2	+	7	1423_1424	c.1179_1180insG	c.(1180-1182)gggfs	p.G394fs	JARID2_ENST00000397311.3_Frame_Shift_Ins_p.G222fs|JARID2_ENST00000541660.1_Frame_Shift_Ins_p.G356fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	394					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L393L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGTC	0.574																																						ENST00000341776.2																			1	Substitution - coding silent(1)	p.L393L(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1177-1182)ctggggfs		jumonji, AT rich interactive domain 2																																				SO:0001589	frameshift_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496635_15496636insG	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1186dupG	6.37:g.15496642_15496642dupG	ENSP00000341280:p.Gly394fs		Somatic				JARID2_ENST00000541660.1_Frame_Shift_Ins_p.LG355fs|JARID2_ENST00000397311.3_Frame_Shift_Ins_p.LG221fs	p.LG393fs	NM_004973.3	NP_004964.2	WXS	Illumina GAIIx	Phase_I	Q92833	JARD2_HUMAN			7	1423_1424	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	393					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Frame_Shift_Ins	INS	ENST00000341776.2	37	c.1179_1180insG	CCDS4533.1																																																																																				0.574	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		7	85						7	85	---	---	---	---
RWDD2A	112611	broad.mit.edu	37	6	83904237	83904237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:83904237delT	ENST00000369724.4	+	2	272	c.67delT	c.(67-69)tttfs	p.F23fs	RWDD2A_ENST00000539997.1_Intron|PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000513973.1_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	23	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GTTTTCTATGTTTCCTAACCA	0.458																																						ENST00000369724.4																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5						c.(67-69)ttfs		RWD domain containing 2A							100.0	93.0	95.0					6																	83904237		2203	4300	6503	SO:0001589	frameshift_variant	112611							g.chr6:83904237delT	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.67delT	6.37:g.83904237delT	ENSP00000358739:p.Phe23fs		Somatic				RWDD2A_ENST00000539997.1_Intron	p.F23fs	NM_033411.3	NP_219479.2	WXS	Illumina GAIIx	Phase_I	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	2	272	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	23			RWD.		B4DIQ3|E1P548|Q2M3R3|Q96FH1	Frame_Shift_Del	DEL	ENST00000369724.4	37	c.67delT	CCDS4998.1																																																																																				0.458	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		13	36						13	36	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		9	162						9	162	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs		Somatic					p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	WXS	Illumina GAIIx	Phase_I	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		8	183						8	183	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89499215	89499215	+	RNA	DEL	T	T	-	rs371069709		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:89499215delT	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							GTTCTGGAAGTTTTTTTTTTT	0.313																																						ENST00000521433.1																			0																																																			0							g.chr8:89499215delT																													8.37:g.89499215delT			Somatic				RP11-586K2.1_ENST00000523254.1_RNA				WXS	Illumina GAIIx	Phase_I					0	179	+									RNA	DEL	ENST00000521433.1	37																																																																																						0.313	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			9	92						9	92	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113694819	113694826	+	Frame_Shift_Del	DEL	TGCATTGA	TGCATTGA	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:113694819_113694826delTGCATTGA	ENST00000297405.5	-	16	2766_2773	c.2522_2529delTCAATGCA	c.(2521-2529)atcaatgcafs	p.INA841fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.INA841fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.INA737fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.INA801fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	841	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I841M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAACCGCCGTGCATTGATTGGTATTCC	0.356										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.I841M(1)	central_nervous_system(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2521-2529)afs		CUB and Sushi multiple domains 3																																				SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113694819_113694826delTGCATTGA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2522_2529delTCAATGCA	8.37:g.113694819_113694826delTGCATTGA	ENSP00000297405:p.Ile841fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000352409.3_Frame_Shift_Del_p.INA841fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.INA801fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.INA737fs	p.INA841fs	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			16	2766_2773	-			841			Sushi 4.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.2522_2529delTCAATGCA	CCDS6315.1																																																																																				0.356	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	127						7	127	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30315600	30315600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:30315600delA	ENST00000375377.1	-	3	3578	c.3477delT	c.(3475-3477)tttfs	p.F1159fs		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1159					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTCCCCTACAAAGAGAGGGC	0.602																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3475-3477)ttfs		KIAA1462							62.0	65.0	64.0					10																	30315600		1890	4119	6009	SO:0001589	frameshift_variant	57608							g.chr10:30315600delA	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3477delT	10.37:g.30315600delA	ENSP00000364526:p.Phe1159fs		Somatic					p.F1159fs	NM_020848.2	NP_065899.1	WXS	Illumina GAIIx	Phase_I	Q9P266	K1462_HUMAN			3	3578	-			1159					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Frame_Shift_Del	DEL	ENST00000375377.1	37	c.3477delT	CCDS41500.1																																																																																				0.602	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	146						12	146	---	---	---	---
PRCP	5547	broad.mit.edu	37	11	82550318	82550319	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:82550318_82550319delCA	ENST00000313010.3	-	7	1264_1265	c.1070_1071delTG	c.(1069-1071)ctgfs	p.L357fs	PRCP_ENST00000535099.1_Frame_Shift_Del_p.L252fs|PRCP_ENST00000393399.2_Frame_Shift_Del_p.L378fs|PRCP_ENST00000525772.1_5'UTR	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	357					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGCTCCAACCCAGTGTTCCCAG	0.386																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1069-1071)cfs		prolylcarboxypeptidase (angiotensinase C)																																				SO:0001589	frameshift_variant	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82550318_82550319delCA	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1070_1071delTG	11.37:g.82550318_82550319delCA	ENSP00000317362:p.Leu357fs		Somatic				PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Frame_Shift_Del_p.L252fs|PRCP_ENST00000393399.2_Frame_Shift_Del_p.L378fs	p.L357fs	NM_005040.2	NP_005031.1	WXS	Illumina GAIIx	Phase_I	P42785	PCP_HUMAN			7	1264_1265	-			357					A8MU24|B2R7B7|B3KRK5|B5BU34	Frame_Shift_Del	DEL	ENST00000313010.3	37	c.1070_1071delTG	CCDS8262.1																																																																																				0.386	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		9	201						9	201	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														144203							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT			Somatic								WXS	Illumina GAIIx	Phase_I					0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			12	34						12	34	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			9	155						9	155	---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101876667	101876668	+	Frame_Shift_Ins	INS	-	-	G	rs140414335	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:101876667_101876668insG	ENST00000551346.1	+	5	467_468	c.308_309insG	c.(307-312)aaggggfs	p.KG103fs	SPIC_ENST00000299272.5_Frame_Shift_Ins_p.KG103fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	103					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTCCAGCAAAAGGGGGGAAAAG	0.396																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(307-309)aggfs		Spi-C transcription factor (Spi-1/PU.1 related)																																				SO:0001589	frameshift_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101876667_101876668insG	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.314dupG	12.37:g.101876673_101876673dupG	ENSP00000448580:p.Lys103fs		Somatic				SPIC_ENST00000299272.5_Frame_Shift_Ins_p.R103fs	p.R103fs			WXS	Illumina GAIIx	Phase_I	Q8N5J4	SPIC_HUMAN			5	467_468	+			103						Frame_Shift_Ins	INS	ENST00000551346.1	37	c.308_309insG	CCDS9082.1																																																																																				0.396	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		7	170						7	170	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(166-168)cccfs	p.P56fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.P56fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.P56fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	56			P -> T (in dbSNP:rs12884638).		actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(163-168)ggccccfs		signal-induced proliferation-associated 1 like 1																																				SO:0001589	frameshift_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054754_72054755insC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.172dupC	14.37:g.72054761_72054761dupC	ENSP00000450832:p.Pro56fs		Somatic				SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs	p.GP55fs	NM_015556.1	NP_056371.1	WXS	Illumina GAIIx	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	513_514	+			55					J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	c.165_166insC	CCDS9807.1																																																																																				0.535	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		10	170						10	170	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102510938	102510938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:102510938delG	ENST00000360184.4	+	72	13073	c.12909delG	c.(12907-12909)gagfs	p.E4304fs	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4304					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTAGGCGAGAGGAGTTTGTGC	0.577																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12907-12909)gafs		dynein, cytoplasmic 1, heavy chain 1							117.0	109.0	112.0					14																	102510938		2203	4300	6503	SO:0001589	frameshift_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510938delG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12909delG	14.37:g.102510938delG	ENSP00000348965:p.Glu4304fs		Somatic				RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.E4304fs	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			72	13073	+			4304					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	c.12909delG	CCDS9966.1																																																																																				0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		22	160						22	160	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70348690	70348691	+	Frame_Shift_Ins	INS	-	-	G	rs544054629		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:70348690_70348691insG	ENST00000558939.1	-	14	2660_2661	c.1283_1284insC	c.(1282-1284)ccgfs	p.P428fs	TLE3_ENST00000442299.2_Frame_Shift_Ins_p.P420fs|TLE3_ENST00000317509.8_Frame_Shift_Ins_p.P416fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.P438fs|TLE3_ENST00000559191.1_Frame_Shift_Ins_p.P9fs|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.P430fs|TLE3_ENST00000440567.3_Frame_Shift_Ins_p.P418fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.P420fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.P420fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.P425fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.P423fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.P372fs|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.P355fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.P434fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.P428fs	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	428	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGCCCGCATCGGGGGGTGAGG	0.609																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1282-1284)catfs		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)																																				SO:0001589	frameshift_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70348690_70348691insG	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1284dupC	15.37:g.70348696_70348696dupG	ENSP00000452871:p.Pro428fs		Somatic				TLE3_ENST00000440567.3_Frame_Shift_Ins_p.H418fs|TLE3_ENST00000317509.8_Frame_Shift_Ins_p.H416fs|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.H355fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.H425fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.H434fs|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.H420fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.H420fs|TLE3_ENST00000559191.1_Frame_Shift_Ins_p.H9fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.H372fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.H428fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.H438fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.H420fs|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.H430fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.H423fs	p.H428fs			WXS	Illumina GAIIx	Phase_I	Q04726	TLE3_HUMAN			14	2660_2661	-			428			Pro/Ser-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Frame_Shift_Ins	INS	ENST00000558939.1	37	c.1283_1284insC	CCDS45293.1																																																																																				0.609	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		9	177						9	177	---	---	---	---
TEKT5	146279	broad.mit.edu	37	16	10721462	10721462	+	Frame_Shift_Del	DEL	G	G	-	rs201676909		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:10721462delG	ENST00000283025.2	-	7	1507	c.1436delC	c.(1435-1437)ccgfs	p.P479fs	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	479						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.P479L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CACCAGGCGCGGGGTGCAGGG	0.572																																						ENST00000283025.2																			1	Substitution - Missense(1)	p.P479L(1)	ovary(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(1435-1437)cgfs		tektin 5							62.0	61.0	61.0					16																	10721462		2197	4300	6497	SO:0001589	frameshift_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10721462delG		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1436delC	16.37:g.10721462delG	ENSP00000283025:p.Pro479fs		Somatic				TEKT5_ENST00000574923.1_5'UTR	p.P479fs	NM_144674.1	NP_653275.1	WXS	Illumina GAIIx	Phase_I	Q96M29	TEKT5_HUMAN			7	1507	-			479					A1L3Z3	Frame_Shift_Del	DEL	ENST00000283025.2	37	c.1436delC	CCDS10542.1																																																																																				0.572	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		10	122						10	122	---	---	---	---
CPPED1	55313	broad.mit.edu	37	16	12798724	12798725	+	Frame_Shift_Ins	INS	-	-	G	rs145004672	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:12798724_12798725insG	ENST00000381774.4	-	3	711_712	c.471_472insC	c.(469-474)ggcgtcfs	p.V158fs	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	158	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.V158I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AGGAACAGGACGCCCCCGACCC	0.609																																						ENST00000381774.4																			1	Substitution - Missense(1)	p.V158I(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(469-474)ggtcctfs		calcineurin-like phosphoesterase domain containing 1																																				SO:0001589	frameshift_variant	55313						hydrolase activity|metal ion binding	g.chr16:12798724_12798725insG	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.472dupC	16.37:g.12798725_12798725dupG	ENSP00000371193:p.Val158fs		Somatic				CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	p.P158fs	NM_018340.2	NP_060810.2	WXS	Illumina GAIIx	Phase_I	Q9BRF8	CPPED_HUMAN			3	711_712	-			158					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Frame_Shift_Ins	INS	ENST00000381774.4	37	c.471_472insC	CCDS42120.1																																																																																				0.609	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		41	151						41	151	---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825015	29825016	+	Frame_Shift_Ins	INS	-	-	C	rs587778771		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:29825015_29825016insC	ENST00000358758.7	+	2	923_924	c.640_641insC	c.(640-642)gccfs	p.A214fs	AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567551.1_3'UTR|AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000300797.6_Frame_Shift_Ins_p.A214fs|PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.A214fs	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.		A -> P. {ECO:0000269|PubMed:22101681}.	A -> AP (in Ref. 3; CAD38881). {ECO:0000305}.	neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R217fs*12(1)|p.A214P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCAATGGGGCCCCCCCCCGA	0.653																																						ENST00000300797.6																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.R217fs*12(1)|p.A214P(1)	large_intestine(1)|central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(640-642)cccfs		proline-rich transmembrane protein 2																																				SO:0001589	frameshift_variant	112476				response to biotic stimulus	integral to membrane		g.chr16:29825015_29825016insC	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.649dupC	16.37:g.29825024_29825024dupC	ENSP00000351608:p.Ala214fs		Somatic				PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.P214fs|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Frame_Shift_Ins_p.P214fs|AC009133.20_ENST00000569039.1_RNA	p.P214fs			WXS	Illumina GAIIx	Phase_I	Q7Z6L0	PRRT2_HUMAN			2	814_815	+			214	A -> AP (in Ref. 3; CAD38881).		Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Frame_Shift_Ins	INS	ENST00000358758.7	37	c.640_641insC	CCDS10654.1																																																																																				0.653	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		2	4						2	4	---	---	---	---
SNORD3C	780853	broad.mit.edu	37	17	19091512	19091517	+	lincRNA	DEL	GGGAGT	GGGAGT	-	rs556489629	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:19091512_19091517delGGGAGT	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		ctccgtattggggagtgagagggaga	0.539																																						ENST00000365494.1																			0																	27,1275		5,17,629						-0.1	0.0			5	198,1962		25,148,907	no	intergenic				30,165,1536	A1A1,A1R,RR		9.1667,2.0737,6.4991				225,3237						780851							g.chr17:19091512_19091517delGGGAGT			17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091512_19091517delGGGAGT			Somatic								WXS	Illumina GAIIx	Phase_I					0	184_189	+									RNA	DEL	ENST00000362428.1	37																																																																																						0.539	SNORD3C-201	KNOWN	basic	snoRNA	lincRNA		NR_006881		17	91						17	91	---	---	---	---
SEZ6	124925	broad.mit.edu	37	17	27296913	27296914	+	Frame_Shift_Ins	INS	-	-	C	rs546693444		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:27296913_27296914insC	ENST00000317338.12	-	4	1343_1344	c.915_916insG	c.(913-918)gggcctfs	p.P306fs	SEZ6_ENST00000360295.9_Frame_Shift_Ins_p.P306fs|SEZ6_ENST00000335960.6_Frame_Shift_Ins_p.P306fs|SEZ6_ENST00000442608.3_Frame_Shift_Ins_p.P306fs|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	306					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGTGGGTCAGGCCCCCCCAGGC	0.614																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(913-918)ggctgafs		seizure related 6 homolog (mouse)																																				SO:0001589	frameshift_variant	124925					integral to membrane|plasma membrane		g.chr17:27296913_27296914insC	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.916dupG	17.37:g.27296920_27296920dupC	ENSP00000312942:p.Pro306fs		Somatic				SEZ6_ENST00000442608.3_Frame_Shift_Ins_p.*306fs|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Frame_Shift_Ins_p.*306fs|SEZ6_ENST00000360295.9_Frame_Shift_Ins_p.*306fs	p.*306fs			WXS	Illumina GAIIx	Phase_I	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		4	1343_1344	-	Lung NSC(42;0.0137)		306					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Frame_Shift_Ins	INS	ENST00000317338.12	37	c.915_916insG	CCDS45639.1																																																																																				0.614	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			7	44						7	44	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71394281	71394282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:71394281_71394282insG	ENST00000392650.3	-	24	3246_3247	c.3246_3247insC	c.(3244-3249)cccagtfs	p.S1083fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.S1083fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1083	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTGG	0.619																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(3244-3249)ccgtcafs		sidekick cell adhesion molecule 2																																				SO:0001589	frameshift_variant	54549				cell adhesion	integral to membrane		g.chr17:71394281_71394282insG	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3247dupC	17.37:g.71394288_71394288dupG	ENSP00000376421:p.Ser1083fs		Somatic				SDK2_ENST00000388726.3_Frame_Shift_Ins_p.S1083fs	p.S1083fs	NM_001144952.1	NP_001138424.1	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			24	3246_3247	-			1083			Fibronectin type-III 5.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Ins	INS	ENST00000392650.3	37	c.3246_3247insC	CCDS45769.1																																																																																				0.619	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		7	45						7	45	---	---	---	---
PPP6R1	22870	broad.mit.edu	37	19	55742196	55742197	+	Frame_Shift_Ins	INS	-	-	G	rs550637760	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:55742196_55742197insG	ENST00000412770.2	-	22	3081_3082	c.2515_2516insC	c.(2515-2517)cagfs	p.Q839fs	TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Frame_Shift_Ins_p.Q839fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	839	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						TTCTGTGGTCTGGGGGGGCTGG	0.703													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	3	0.000599042	0.0	0.0029	5008	,	,		9673	0.001		0.0	False		,,,				2504	0.0					ENST00000412770.2																			0				breast(1)	1						c.(2515-2517)gacfs		protein phosphatase 6, regulatory subunit 1																																				SO:0001589	frameshift_variant	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55742196_55742197insG	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2516dupC	19.37:g.55742203_55742203dupG	ENSP00000414202:p.Gln839fs		Somatic				PPP6R1_ENST00000587283.1_Frame_Shift_Ins_p.D839fs	p.D839fs	NM_014931.3	NP_055746.3	WXS	Illumina GAIIx	Phase_I	Q9UPN7	PP6R1_HUMAN			22	3081_3082	-			839			Pro-rich.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Ins	INS	ENST00000412770.2	37	c.2515_2516insC	CCDS46186.1																																																																																				0.703	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		4	9						4	9	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs		Somatic				SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			9	267						9	267	---	---	---	---
TCP10L	140290	broad.mit.edu	37	21	33949090	33949091	+	Frame_Shift_Ins	INS	-	-	C	rs373347740|rs541034925	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr21:33949090_33949091insC	ENST00000300258.3	-	5	754_755	c.641_642insG	c.(640-642)ggtfs	p.G214fs	LINC00846_ENST00000334165.4_lincRNA|TCP10L_ENST00000472557.1_Frame_Shift_Ins_p.G128fs	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	214					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						ATCTTCAGACACCCCCCCGTCT	0.48													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0	0.0	5008	,	,		15894	0.0		0.002	False		,,,				2504	0.002					ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(640-642)ggtfs		t-complex 10-like																																				SO:0001589	frameshift_variant	140290							g.chr21:33949090_33949091insC	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.642dupG	21.37:g.33949097_33949097dupC	ENSP00000300258:p.Gly214fs		Somatic				TCP10L_ENST00000491828.1_5'UTR	p.G214fs	NM_144659.5	NP_653260.1	WXS	Illumina GAIIx	Phase_I					5	754_755	-								Q53EW0|Q96LN5	Frame_Shift_Ins	INS	ENST00000300258.3	37	c.641_642insG	CCDS13616.1																																																																																				0.480	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		10	89						10	89	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1390-1395)ggtgaafs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662759_17662760insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs		Somatic				CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs	p.E465fs			WXS	Illumina GAIIx	Phase_I	Q9NZK5	CECR1_HUMAN			9	1662_1663	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	465					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.1392_1393insG	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			7	262						7	262	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs281874665|rs281874666|rs104886321|rs104886113		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:107834821_107834822insC	ENST00000361603.2	+	21	1614_1615	c.1370_1371insC	c.(1369-1374)ggccccfs	p.GP457fs	COL4A5_ENST00000328300.6_Frame_Shift_Ins_p.GP457fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CD961911	COL4A5	D		c.(1369-1371)gccfs		collagen, type IV, alpha 5																																				SO:0001589	frameshift_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834821_107834822insC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1376dupC	X.37:g.107834827_107834827dupC	ENSP00000354505:p.Gly457fs		Somatic				COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	p.A457fs	NM_033380.2	NP_203699.1	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			21	1614_1615	+			457		Missing (in APSX).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Ins	INS	ENST00000361603.2	37	c.1370_1371insC	CCDS14543.1																																																																																				0.406	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			8	479						8	479	---	---	---	---
LAMP2	3920	broad.mit.edu	37	X	119575704	119575705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:119575704_119575705insG	ENST00000200639.4	-	8	1109_1110	c.973_974insC	c.(973-975)ctgfs	p.L325fs	LAMP2_ENST00000371335.4_Frame_Shift_Ins_p.L325fs|LAMP2_ENST00000434600.2_Frame_Shift_Ins_p.L325fs|LAMP2_ENST00000538785.1_Frame_Shift_Ins_p.L214fs|LAMP2_ENST00000540603.1_Frame_Shift_Ins_p.L278fs			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	325	Second lumenal domain.			DAPLG -> MPP (in Ref. 1; AAA60383). {ECO:0000305}.	blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGAACTTCCCAGGGGGGCATCC	0.391																																						ENST00000371335.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15	GRCh37	CX003730	LAMP2	X		c.(973-975)gggfs		lysosomal-associated membrane protein 2																																				SO:0001589	frameshift_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119575704_119575705insG	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.974dupC	X.37:g.119575710_119575710dupG	ENSP00000200639:p.Leu325fs		Somatic				LAMP2_ENST00000538785.1_Frame_Shift_Ins_p.G214fs|LAMP2_ENST00000434600.2_Frame_Shift_Ins_p.G325fs|LAMP2_ENST00000200639.4_Frame_Shift_Ins_p.G325fs|LAMP2_ENST00000540603.1_Frame_Shift_Ins_p.G278fs	p.G325fs	NM_013995.2	NP_054701.1	WXS	Illumina GAIIx	Phase_I	P13473	LAMP2_HUMAN			8	1109_1110	-			325	DAPLG -> MPP (in Ref. 1; AAA60383).		Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Frame_Shift_Ins	INS	ENST00000200639.4	37	c.973_974insC	CCDS14599.1																																																																																				0.391	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			7	310						7	310	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150842424_150842425insC	ENST00000370357.4	+	15	2186_2187	c.1941_1942insC	c.(1942-1944)cccfs	p.P648fs		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTATCAAGGGCCCCCCGTGAA	0.455																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1939-1944)ggccccfs		PAS domain containing 1																																				SO:0001589	frameshift_variant	139135					nucleus	signal transducer activity	g.chrX:150842424_150842425insC	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1947dupC	X.37:g.150842430_150842430dupC	ENSP00000359382:p.Pro648fs		Somatic					p.GP647fs	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	Q8IV76	PASD1_HUMAN			15	2186_2187	+	Acute lymphoblastic leukemia(192;6.56e-05)		647					Q3MNE0|Q69HD7|Q8N7X9	Frame_Shift_Ins	INS	ENST00000370357.4	37	c.1941_1942insC	CCDS35431.1																																																																																				0.455	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		9	315						9	315	---	---	---	---
