#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FAM47B	170062	broad.mit.edu	37	X	34962328	34962328	+	Silent	SNP	G	G	A	rs191392189		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:34962328G>A	ENST00000329357.5	+	1	1416	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	460										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACACACATCGAGAAAACTCC	0.468													G|||	2	0.000529801	0.0	0.0029	3775	,	,		14992	0.0		0.0	False		,,,				2504	0.0					ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1378-1380)tcG>tcA		family with sequence similarity 47, member B							116.0	108.0	111.0					X																	34962328		2202	4297	6499	SO:0001819	synonymous_variant	170062							g.chrX:34962328G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1380G>A	X.37:g.34962328G>A							p.S460S	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1416	+			460					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1380G>A	CCDS14236.1																																																																																				0.468	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		44	55	0	0	0	1	0	44	55				
ZC3H6	376940	broad.mit.edu	37	2	113089467	113089467	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:113089467C>T	ENST00000409871.1	+	12	3373	c.2972C>T	c.(2971-2973)gCa>gTa	p.A991V	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A991V|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	991							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GATTCACATGCATCAAAGGGT	0.473																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2971-2973)gCa>gTa		zinc finger CCCH-type containing 6							46.0	44.0	44.0					2																	113089467		1925	4120	6045	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089467C>T	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2972C>T	2.37:g.113089467C>T	ENSP00000386764:p.Ala991Val					ZC3H6_ENST00000343936.4_Missense_Mutation_p.A991V	p.A991V	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3373	+			991					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.2972C>T	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	6.435	0.448475	0.12223	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.14766	2.48;2.48	5.59	2.48	0.30137	.	1.006310	0.07978	N	0.985054	T	0.11537	0.0281	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	10	0.59425	D	0.04	1.7494	9.5504	0.39306	0.0:0.7467:0.0:0.2533	.	991	P61129	ZC3H6_HUMAN	V	991	ENSP00000386764:A991V;ENSP00000340298:A991V	ENSP00000340298:A991V	A	+	2	0	ZC3H6	112805938	0.023000	0.18921	0.001000	0.08648	0.618000	0.37518	1.100000	0.31025	0.174000	0.19809	0.591000	0.81541	GCA		0.473	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		15	18	0	0	0	1	0	15	18				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>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.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	104	0	0	0	1	0	6	104				
FAM171B	165215	broad.mit.edu	37	2	187615972	187615972	+	Missense_Mutation	SNP	G	G	A	rs369698664		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:187615972G>A	ENST00000304698.5	+	5	1039	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	279						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTCTTCTACGTCTGAATGAT	0.363																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(835-837)cGt>cAt		family with sequence similarity 171, member B		G	HIS/ARG	0,4406		0,0,2203	94.0	99.0	97.0		836	-0.1	0.3	2		97	4,8596	3.7+/-12.6	0,4,4296	no	missense	FAM171B	NM_177454.3	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	279/827	187615972	4,13002	2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187615972G>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.836G>A	2.37:g.187615972G>A	ENSP00000304108:p.Arg279His						p.R279H	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			5	1039	+			279					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.836G>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	8.421	0.846299	0.16963	0.0	4.65E-4	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.31510	1.49	5.49	-0.0538	0.13816	.	0.499150	0.23532	N	0.047170	T	0.08537	0.0212	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35574	-0.9783	10	0.10636	T	0.68	-3.2722	6.1927	0.20534	0.4053:0.4253:0.1695:0.0	.	279;280	Q6P995;A8K122	F171B_HUMAN;.	H	279	ENSP00000304108:R279H	ENSP00000272804:R279H	R	+	2	0	FAM171B	187324217	0.002000	0.14202	0.300000	0.25030	0.286000	0.27126	1.165000	0.31822	0.048000	0.15891	-0.320000	0.08662	CGT		0.363	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		9	27	0	0	0	1	0	9	27				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	80	0	0	0	1	0	4	80				
ARHGEF10L	55160	broad.mit.edu	37	1	17966763	17966763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:17966763G>T	ENST00000361221.3	+	21	2397	c.2238G>T	c.(2236-2238)tgG>tgT	p.W746C	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.W741C|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.W449C|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.W519C|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.W707C	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	746						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGATTTCCTGGGTCAACAGGT	0.572																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2236-2238)tgG>tgT		Rho guanine nucleotide exchange factor (GEF) 10-like							73.0	62.0	65.0					1																	17966763		2202	4300	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17966763G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2238G>T	1.37:g.17966763G>T	ENSP00000355060:p.Trp746Cys					ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.W449C|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.W741C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.W519C	p.W746C	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	21	2397	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	746					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.2238G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395482	0.83011	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;1.0;0.999	D	0.92724	0.6194	10	0.87932	D	0	-9.0071	18.1276	0.89591	0.0:0.0:1.0:0.0	.	519;741;449;507;702;707;746	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	C	746;707;741;707;519;519;449	ENSP00000355060:W746C;ENSP00000399401:W707C;ENSP00000394621:W741C;ENSP00000364564:W707C;ENSP00000364557:W519C;ENSP00000167825:W449C	ENSP00000167825:W449C	W	+	3	0	ARHGEF10L	17839350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.013000	0.93629	2.621000	0.88768	0.557000	0.71058	TGG		0.572	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		12	0	1	0	2.27111e-07	1	2.52038e-07	12	0				
USP11	8237	broad.mit.edu	37	X	47101057	47101057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:47101057G>T	ENST00000218348.3	+	9	1267	c.1267G>T	c.(1267-1269)Gag>Tag	p.E423*	USP11_ENST00000377107.2_Nonsense_Mutation_p.E380*	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	423	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GAAGAAGAAGGAGTATGTGGA	0.567																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1138-1140)Gag>Tag		ubiquitin specific peptidase 11							119.0	99.0	105.0					X																	47101057		2203	4300	6503	SO:0001587	stop_gained	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101057G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1267G>T	X.37:g.47101057G>T	ENSP00000218348:p.Glu423*					USP11_ENST00000218348.3_Nonsense_Mutation_p.E423*	p.E380*			P51784	UBP11_HUMAN			9	1492	+			423					B2RTX1|Q8IUG6|Q9BWE1	Nonsense_Mutation	SNP	ENST00000218348.3	37	c.1138G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.784217	0.96937	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.1621	12.6565	0.56790	0.0:0.1623:0.8377:0.0	.	.	.	.	X	380;423	.	ENSP00000218348:E423X	E	+	1	0	USP11	46986001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.937000	0.48979	2.235000	0.73313	0.600000	0.82982	GAG		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		23	23	1	0	1.9806e-07	1	2.22512e-07	23	23				
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(226-228)Cga>Tga		protocadherin 11 X-linked							196.0	163.0	174.0					X																	91090729		2203	4300	6503	SO:0001587	stop_gained	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090729C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.226C>T	X.37:g.91090729C>T	ENSP00000362186:p.Arg76*					PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*	p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1071	+			76			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	c.226C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.06	2.01	0.26516	.	0.078447	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6815	0.51461	0.3941:0.6059:0.0:0.0	.	.	.	.	X	76	.	ENSP00000298274:R76X	R	+	1	2	PCDH11X	90977385	0.654000	0.27367	0.960000	0.40013	0.236000	0.25371	0.527000	0.22987	0.784000	0.33661	0.506000	0.49869	CGA		0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		52	102	0	0	0	1	0	52	102				
C3	718	broad.mit.edu	37	19	6678426	6678426	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:6678426G>A	ENST00000245907.6	-	39	4763	c.4671C>T	c.(4669-4671)gaC>gaT	p.D1557D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1557	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACTCGTCAAAGTCATTGGACA	0.582																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4669-4671)gaC>gaT		complement component 3							156.0	105.0	122.0					19																	6678426		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6678426G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4671C>T	19.37:g.6678426G>A						C3_ENST00000599668.1_5'UTR	p.D1557D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	39	4763	-			1557			NTR.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4671C>T	CCDS32883.1																																																																																				0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		14	12	0	0	0	1	0	14	12				
SEMA3D	223117	broad.mit.edu	37	7	84628909	84628909	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr7:84628909G>A	ENST00000284136.6	-	17	2224	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	727					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTACTGGTCGAGGCTGAAGT	0.512																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2179-2181)ctC>ctT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							168.0	142.0	151.0					7																	84628909		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628909G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2181C>T	7.37:g.84628909G>A						SEMA3D_ENST00000484038.1_5'UTR	p.L727L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2224	-			727					A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.2181C>T	CCDS34676.1																																																																																				0.512	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		20	42	0	0	0	1	0	20	42				
KAT2B	8850	broad.mit.edu	37	3	20082165	20082165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:20082165G>T	ENST00000263754.4	+	1	651	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	66					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CACGGCCGAAGGACCGGGAGG	0.746																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(196-198)Gga>Tga		K(lysine) acetyltransferase 2B							6.0	6.0	6.0					3																	20082165		1748	3613	5361	SO:0001587	stop_gained	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20082165G>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.196G>T	3.37:g.20082165G>T	ENSP00000263754:p.Gly66*						p.G66*	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			1	651	+			66					Q6NSK1	Nonsense_Mutation	SNP	ENST00000263754.4	37	c.196G>T	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	42	9.288937	0.99127	.	.	ENSG00000114166	ENST00000263754	.	.	.	2.13	1.19	0.21007	.	0.490868	0.15913	U	0.238500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	8.0638	0.30648	0.1548:0.0:0.8452:0.0	.	.	.	.	X	66	.	ENSP00000263754:G66X	G	+	1	0	KAT2B	20057169	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	2.017000	0.40981	1.184000	0.42957	0.456000	0.33151	GGA		0.746	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		5	17	1	0	5.9392e-07	1	6.51165e-07	5	17				
PLCL1	5334	broad.mit.edu	37	2	198950127	198950127	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:198950127A>T	ENST00000428675.1	+	2	2284	c.1886A>T	c.(1885-1887)gAg>gTg	p.E629V	PLCL1_ENST00000437704.2_Missense_Mutation_p.E531V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	629	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGTACCCAGAGGATTTTGTT	0.368																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1885-1887)gAg>gTg		phospholipase C-like 1	Quinacrine(DB01103)						38.0	41.0	40.0					2																	198950127		2202	4299	6501	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950127A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1886A>T	2.37:g.198950127A>T	ENSP00000402861:p.Glu629Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.E531V	p.E629V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2284	+			629			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1886A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	14.59	2.582100	0.46006	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.68624	-0.34;-0.34	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.64402	D	0.000003	T	0.71091	0.3299	L	0.35414	1.06	0.58432	D	0.999999	D;D	0.59357	0.985;0.985	P;P	0.62298	0.9;0.864	T	0.69529	-0.5121	9	.	.	.	.	15.5299	0.75952	1.0:0.0:0.0:0.0	.	629;555	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	629;531	ENSP00000402861:E629V;ENSP00000414138:E531V	.	E	+	2	0	PLCL1	198658372	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.877000	0.75562	2.254000	0.74563	0.459000	0.35465	GAG		0.368	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		7	24	0	0	0	1	0	7	24				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			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.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	103	0	0	0	1	0	11	103				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	132	0	0	0	1	0	6	132				
RPS6KA6	27330	broad.mit.edu	37	X	83359667	83359667	+	Splice_Site	SNP	T	T	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:83359667T>A	ENST00000262752.2	-	17	1463		c.e17-2		RPS6KA6_ENST00000543399.1_Splice_Site|RPS6KA6_ENST00000495332.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCAAAGACCTACAAAAGAAC	0.294																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.e17-2		ribosomal protein S6 kinase, 90kDa, polypeptide 6							47.0	41.0	43.0					X																	83359667		2202	4296	6498	SO:0001630	splice_region_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83359667T>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1456-2A>T	X.37:g.83359667T>A						RPS6KA6_ENST00000543399.1_Splice_Site|RPS6KA6_ENST00000495332.1_Splice_Site		NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			17	1463	-								B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Splice_Site	SNP	ENST00000262752.2	37		CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788782	0.49997	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5176	0.61549	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA6	83246323	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.615000	0.83006	1.723000	0.51488	0.427000	0.28365	.		0.294	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	Intron	10	13	0	0	0	1	0	10	13				
FLNA	2316	broad.mit.edu	37	X	153590696	153590696	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:153590696G>A	ENST00000369850.3	-	18	2806	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	FLNA_ENST00000360319.4_Missense_Mutation_p.T857M|FLNA_ENST00000422373.1_Missense_Mutation_p.T857M|FLNA_ENST00000344736.4_Missense_Mutation_p.T857M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	857					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGTGGGCGTGGCCTGCAG	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.(2569-2571)aCg>aTg		filamin A, alpha							45.0	52.0	49.0					X																	153590696		2123	4203	6326	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590696G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2570C>T	X.37:g.153590696G>A	ENSP00000358866:p.Thr857Met					FLNA_ENST00000369850.3_Missense_Mutation_p.T857M|FLNA_ENST00000344736.4_Missense_Mutation_p.T857M|FLNA_ENST00000360319.4_Missense_Mutation_p.T857M	p.T857M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			18	2818	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		857					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2570C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344021	0.61073	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.91	4.91	0.64330	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.069870	0.56097	D	0.000037	T	0.59770	0.2218	N	0.22421	0.69	0.80722	D	1	P;D	0.54047	0.956;0.964	P;P	0.54924	0.651;0.764	T	0.64651	-0.6357	10	0.87932	D	0	.	11.4197	0.49974	0.0984:0.0:0.9016:0.0	.	857;857	P21333-2;P21333	.;FLNA_HUMAN	M	857;830;857;857;857	ENSP00000353467:T857M;ENSP00000416926:T857M;ENSP00000358866:T857M;ENSP00000358863:T857M	ENSP00000358863:T857M	T	-	2	0	FLNA	153243890	0.998000	0.40836	0.988000	0.46212	0.907000	0.53573	3.136000	0.50554	2.156000	0.67533	0.529000	0.55759	ACG		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			34	85	0	0	0	1	0	34	85				
ICK	22858	broad.mit.edu	37	6	52884097	52884097	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:52884097T>G	ENST00000350082.5	-	6	765	c.419A>C	c.(418-420)aAa>aCa	p.K140T	ICK_ENST00000356971.3_Missense_Mutation_p.K140T	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GTCTGCAATTTTCACAAGTTC	0.388																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.(418-420)aAa>aCa		intestinal cell (MAK-like) kinase							86.0	82.0	83.0					6																	52884097		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52884097T>G	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.419A>C	6.37:g.52884097T>G	ENSP00000263043:p.Lys140Thr					ICK_ENST00000350082.5_Missense_Mutation_p.K140T	p.K140T	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			7	908	-	Lung NSC(77;0.103)		140			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.419A>C	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885897	0.91814	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.63580	-0.05;-0.05	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88145	0.2847	10	0.87932	D	0	-23.6902	15.5966	0.76587	0.0:0.0:0.0:1.0	.	140;140	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	T	140	ENSP00000263043:K140T;ENSP00000349458:K140T	ENSP00000263043:K140T	K	-	2	0	ICK	52992056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.825000	0.86693	2.326000	0.78906	0.533000	0.62120	AAA		0.388	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		8	27	0	0	0	1	0	8	27				
ABCC8	6833	broad.mit.edu	37	11	17419890	17419890	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:17419890C>T	ENST00000389817.3	-	30	3817	c.3749G>A	c.(3748-3750)cGa>cAa	p.R1250Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1251Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1250	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.R1250Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ACTTGCCATTCGGACTTCCAG	0.542																																						ENST00000302539.4																			1	Substitution - Missense(1)	p.R1250Q(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3751-3753)cGa>cAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						190.0	165.0	173.0					11																	17419890		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17419890C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3749G>A	11.37:g.17419890C>T	ENSP00000374467:p.Arg1250Gln					ABCC8_ENST00000389817.3_Missense_Mutation_p.R1250Q	p.R1251Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	30	3877	-			1250			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3752G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669229	0.96754	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.89810	-2.57;-2.57	5.46	5.46	0.80206	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98192	1.0463	10	0.62326	D	0.03	.	19.3005	0.94143	0.0:1.0:0.0:0.0	.	1250	Q09428	ABCC8_HUMAN	Q	1250;1251	ENSP00000374467:R1250Q;ENSP00000303960:R1251Q	ENSP00000303960:R1251Q	R	-	2	0	ABCC8	17376466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.576000	0.86940	0.555000	0.69702	CGA		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		24	17	0	0	0	1	0	24	17				
KIR3DL1	3811	broad.mit.edu	37	19	55284834	55284834	+	Intron	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:55284834A>G	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Silent_p.K40K|KIR2DL1_ENST00000291633.7_Silent_p.K40K|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCCTGGTGAAATCAGAAGAGA	0.493																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(118-120)aaA>aaG		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							99.0	85.0	90.0					19																	55284834		1995	3787	5782	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284834A>G	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44155A>G	19.37:g.55284834A>G						KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.K40K|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	p.K40K	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	160	+			40					O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.120A>G																																																																																					0.493	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		6	222	0	0	0	1	0	6	222				
MTNR1A	4543	broad.mit.edu	37	4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	rs148793802	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:187455100C>T	ENST00000307161.5	-	2	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	266					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507													C|||	6	0.00119808	0.0	0.0	5008	,	,		19771	0.0		0.006	False		,,,				2504	0.0					ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(796-798)Gcc>Acc		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)	C	THR/ALA	1,4405		0,1,2202	72.0	79.0	76.0		796	3.2	0.0	4	dbSNP_134	76	5,8595	3.7+/-12.6	0,5,4295	yes	missense	MTNR1A	NM_005958.3	58	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign	266/351	187455100	6,13000	2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455100C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.796G>A	4.37:g.187455100C>T	ENSP00000302811:p.Ala266Thr					RP11-215A19.2_ENST00000509111.1_Intron	p.A266T	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	997	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	266					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.796G>A	CCDS3848.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	1.808	-0.475429	0.04414	2.27E-4	5.81E-4	ENSG00000168412	ENST00000307161	T	0.71579	-0.58	4.96	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.667620	0.15692	N	0.249369	T	0.52757	0.1754	N	0.25825	0.765	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.33137	-0.9880	10	0.21014	T	0.42	-2.2721	7.511	0.27573	0.1342:0.7171:0.0:0.1487	.	266	P48039	MTR1A_HUMAN	T	266	ENSP00000302811:A266T	ENSP00000302811:A266T	A	-	1	0	MTNR1A	187692094	0.011000	0.17503	0.002000	0.10522	0.003000	0.03518	0.765000	0.26546	1.082000	0.41137	0.655000	0.94253	GCC		0.507	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			39	49	0	0	0	1	0	39	49				
TREX2	11219	broad.mit.edu	37	X	152710335	152710335	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:152710335C>T	ENST00000334497.2	-	11	1824	c.683G>A	c.(682-684)aGc>aAc	p.S228N	TREX2_ENST00000414588.1_Missense_Mutation_p.S227N|TREX2_ENST00000330912.2_Missense_Mutation_p.S185N|TREX2_ENST00000402951.1_Missense_Mutation_p.S228N|TREX2_ENST00000370231.2_Missense_Mutation_p.S185N|TREX2_ENST00000370232.1_Missense_Mutation_p.S228N|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000393862.2_Missense_Mutation_p.S185N|TREX2_ENST00000338525.2_Missense_Mutation_p.S185N			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	228					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGCTGCGCTTGGCTCTGC	0.736								Editing and processing nucleases																														ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(553-555)aGc>aAc	Editing and processing nucleases	three prime repair exonuclease 2							15.0	14.0	14.0					X																	152710335		2185	4270	6455	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710335C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.683G>A	X.37:g.152710335C>T	ENSP00000334993:p.Ser228Asn					TREX2_ENST00000370231.2_Missense_Mutation_p.S185N|TREX2_ENST00000393862.2_Missense_Mutation_p.S185N|TREX2_ENST00000370232.1_Missense_Mutation_p.S228N|TREX2_ENST00000414588.1_Missense_Mutation_p.S227N|TREX2_ENST00000338525.2_Missense_Mutation_p.S185N|TREX2_ENST00000334497.2_Missense_Mutation_p.S228N|TREX2_ENST00000402951.1_Missense_Mutation_p.S228N	p.S185N			Q9BQ50	TREX2_HUMAN			13	2104	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		228					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.554G>A		.	.	.	.	.	.	.	.	.	.	C	1.377	-0.584519	0.03827	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	4.76	2.66	0.31614	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	1.633110	0.04329	U	0.351943	T	0.12561	0.0305	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	10	0.18710	T	0.47	-8.3273	2.1922	0.03902	0.2484:0.4217:0.0:0.3299	.	227;228	Q06S70;Q9BQ50	.;TREX2_HUMAN	N	185;185;185;228;228;228;227;185	ENSP00000377442:S185N;ENSP00000333441:S185N;ENSP00000345218:S185N;ENSP00000334993:S228N;ENSP00000359252:S228N;ENSP00000386078:S228N;ENSP00000401692:S227N;ENSP00000359251:S185N	ENSP00000333441:S185N	S	-	2	0	TREX2	152363529	0.000000	0.05858	0.028000	0.17463	0.137000	0.21094	0.130000	0.15850	0.812000	0.34326	0.468000	0.43344	AGC		0.736	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		12	4	0	0	0	1	0	12	4				
ZNF473	25888	broad.mit.edu	37	19	50549834	50549834	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:50549834C>T	ENST00000595661.1	+	6	2629	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.R712C|ZNF473_ENST00000445728.3_Missense_Mutation_p.R700C|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.R712C|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	712					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAAACGTTCCGTCAGAGCTC	0.502																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2134-2136)Cgt>Tgt		zinc finger protein 473							97.0	101.0	99.0					19																	50549834		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549834C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2134C>T	19.37:g.50549834C>T	ENSP00000472808:p.Arg712Cys					ZNF473_ENST00000445728.3_Missense_Mutation_p.R700C|ZNF473_ENST00000270617.3_Missense_Mutation_p.R712C|ZNF473_ENST00000391821.2_Missense_Mutation_p.R712C|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA	p.R712C			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2629	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	712					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2134C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484780	0.26598	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.01043	5.41;5.41;5.41	4.25	-0.788	0.10939	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.231740	0.06082	N	0.661989	T	0.03390	0.0098	L	0.53617	1.68	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.47005	-0.9150	10	0.51188	T	0.08	0.418	8.3972	0.32564	0.4343:0.4247:0.141:0.0	.	712	Q8WTR7	ZN473_HUMAN	C	712;712;700	ENSP00000270617:R712C;ENSP00000375697:R712C;ENSP00000388961:R700C	ENSP00000270617:R712C	R	+	1	0	ZNF473	55241646	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	-0.429000	0.06982	-0.005000	0.14395	-0.241000	0.12123	CGT		0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		28	53	0	0	0	1	0	28	53				
SH2B1	25970	broad.mit.edu	37	16	28855116	28855116	+	5'Flank	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:28855116G>T	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Missense_Mutation_p.P379T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AACATGACAGGCATGAAGTGG	0.577																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(1135-1137)Cct>Act		Tu translation elongation factor, mitochondrial							71.0	59.0	63.0					16																	28855116		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28855116G>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855116G>T	Exception_encountered						p.P379T	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN			9	1273	-			376					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1135C>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721818	0.89298	.	.	ENSG00000178952	ENST00000313511	T	0.74209	-0.82	6.07	6.07	0.98685	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.056072	0.64402	D	0.000001	D	0.90092	0.6905	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91391	0.5135	10	0.87932	D	0	-3.2328	19.4154	0.94694	0.0:0.0:1.0:0.0	.	376	P49411	EFTU_HUMAN	T	379	ENSP00000322439:P379T	ENSP00000322439:P379T	P	-	1	0	TUFM	28762617	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.114000	0.89570	2.884000	0.98904	0.655000	0.94253	CCT		0.577	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		14	19	1	0	9.31168e-06	1	1.00877e-05	14	19				
CLEC12A	160364	broad.mit.edu	37	12	10132100	10132100	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:10132100G>A	ENST00000304361.4	+	3	538	c.356G>A	c.(355-357)cGt>cAt	p.R119H	CLEC12A_ENST00000350667.4_Missense_Mutation_p.R86H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R129H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R119H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAATTATGTCGTGAGCTATAT	0.343																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(355-357)cGt>cAt		C-type lectin domain family 12, member A							78.0	71.0	74.0					12																	10132100		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10132100G>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.356G>A	12.37:g.10132100G>A	ENSP00000302804:p.Arg119His					CLEC12A_ENST00000434319.2_Missense_Mutation_p.R119H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R129H|CLEC12A_ENST00000350667.4_Missense_Mutation_p.R86H	p.R119H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			3	538	+			119					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.356G>A	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406685	0.25378	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	4.72	-5.5	0.02576	C-type lectin-like (1);	.	.	.	.	T	0.10594	0.0259	L	0.31420	0.93	0.09310	N	1	P;P;P	0.37233	0.588;0.453;0.588	B;B;B	0.29524	0.103;0.048;0.103	T	0.04440	-1.0951	9	0.33940	T	0.23	.	16.1218	0.81361	0.2007:0.0:0.7993:0.0	.	86;119;129	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	H	129;119;119;119;86	ENSP00000347916:R129H;ENSP00000379764:R119H;ENSP00000302804:R119H;ENSP00000405244:R119H;ENSP00000345448:R86H	ENSP00000302804:R119H	R	+	2	0	CLEC12A	10023367	0.001000	0.12720	0.000000	0.03702	0.259000	0.26198	-0.278000	0.08490	-1.015000	0.03375	-0.312000	0.09012	CGT		0.343	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		14	9	0	0	0	1	0	14	9				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	204	0	0	0	1	0	5	204				
NRD1	4898	broad.mit.edu	37	1	52258048	52258048	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:52258048C>A	ENST00000354831.7	-	27	3217		c.e27+1		NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TATGCACTTACCACAAGCAGC	0.502																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.e27+1		nardilysin (N-arginine dibasic convertase)							98.0	101.0	100.0					1																	52258048		2203	4300	6503	SO:0001630	splice_region_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52258048C>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.3027+1G>T	1.37:g.52258048C>A						NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site		NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			27	3217	-								A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	37		CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158073	0.57368	.	.	ENSG00000078618	ENST00000440943;ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4881	0.90836	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52030636	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	7.180000	0.77674	2.604000	0.88044	0.555000	0.69702	.		0.502	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Intron	14	23	1	0	1.15088e-07	1	1.30912e-07	14	23				
PCSK9	255738	broad.mit.edu	37	1	55527145	55527145	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:55527145G>A	ENST00000302118.5	+	11	2069	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	593	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCACAGGGAGGCCAGCATCC	0.652																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1777-1779)gaG>gaA		proprotein convertase subtilisin/kexin type 9							30.0	27.0	28.0					1																	55527145		2201	4299	6500	SO:0001819	synonymous_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55527145G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1779G>A	1.37:g.55527145G>A						PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	p.E593E	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			11	2069	+			593					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.1779G>A	CCDS603.1																																																																																				0.652	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		9	8	0	0	0	1	0	9	8				
FAM86EP	348926	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	A	T	rs17410906		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:3952899A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AGCACCGGGCATACTTGACTG	0.557																																						ENST00000281228.8																			0																																																			0							g.chr4:3952899A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952899A>T						FAM86EP_ENST00000313946.8_RNA								0	208	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.557	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	36	0	0	0	1	0	4	36				
SCN3A	6328	broad.mit.edu	37	2	166019317	166019317	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:166019317G>A	ENST00000360093.3	-	8	1207	c.716C>T	c.(715-717)gCc>gTc	p.A239V	SCN3A_ENST00000283254.7_Missense_Mutation_p.A239V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A239V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	239					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGATCAGGGCCCCCACAAT	0.453																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(715-717)gCc>gTc		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						113.0	113.0	113.0					2																	166019317		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019317G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.716C>T	2.37:g.166019317G>A	ENSP00000353206:p.Ala239Val					SCN3A_ENST00000283254.7_Missense_Mutation_p.A239V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A239V	p.A239V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			8	1207	-			239					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.716C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.181397	0.94885	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.93	5.93	0.95920	Ion transport (1);	0.206477	0.34002	N	0.004350	D	0.99393	0.9786	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.998;0.999;0.998	D;D;D;D;D	0.80764	0.994;0.98;0.992;0.992;0.994	D	0.98897	1.0775	10	0.87932	D	0	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	239;239;239;239;239	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	239	ENSP00000353206:A239V;ENSP00000283254:A239V;ENSP00000386726:A239V;ENSP00000403348:A239V	ENSP00000283254:A239V	A	-	2	0	SCN3A	165727563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.814000	0.96858	0.591000	0.81541	GCC		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		39	80	0	0	0	1	0	39	80				
ZNF142	7701	broad.mit.edu	37	2	219508021	219508021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:219508021T>C	ENST00000449707.1	-	8	3639	c.3218A>G	c.(3217-3219)aAt>aGt	p.N1073S	ZNF142_ENST00000411696.2_Missense_Mutation_p.N1073S	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1073					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGTCCCCATTGCTCAACGG	0.602																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3217-3219)aAt>aGt		zinc finger protein 142							53.0	57.0	56.0					2																	219508021		1914	4115	6029	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508021T>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3218A>G	2.37:g.219508021T>C	ENSP00000408643:p.Asn1073Ser					ZNF142_ENST00000449707.1_Missense_Mutation_p.N1073S	p.N1073S			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3997	-		Renal(207;0.0474)	1073					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3218A>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.376298	0.01214	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.10668	2.85;2.85	3.87	-4.37	0.03633	.	0.793170	0.11807	N	0.527574	T	0.04407	0.0121	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38200	-0.9672	10	0.33940	T	0.23	-13.5905	9.6297	0.39772	0.1431:0.6365:0.0:0.2204	.	1073;910	P52746;A8MWU9	ZN142_HUMAN;.	S	1073	ENSP00000408643:N1073S;ENSP00000398798:N1073S	ENSP00000398798:N1073S	N	-	2	0	ZNF142	219216265	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.099000	0.03343	-0.928000	0.03761	-0.250000	0.11733	AAT		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		11	50	0	0	0	1	0	11	50				
SLC12A7	10723	broad.mit.edu	37	5	1093658	1093658	+	Missense_Mutation	SNP	C	C	A	rs562501613		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:1093658C>A	ENST00000264930.5	-	3	375	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	111					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTGGCCTCCCGCCGCCGGCT	0.662																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(331-333)cGg>cTg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						67.0	47.0	54.0					5																	1093658		2185	4289	6474	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1093658C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.332G>T	5.37:g.1093658C>A	ENSP00000264930:p.Arg111Leu						p.R111L	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		3	375	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		111					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.332G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	6.684	0.494726	0.12702	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.85013	-1.93	3.86	1.57	0.23409	.	0.437879	0.21556	N	0.072652	T	0.76550	0.4003	L	0.46157	1.445	0.09310	N	1	B	0.24651	0.108	B	0.20767	0.031	T	0.66131	-0.6000	10	0.48119	T	0.1	.	6.1389	0.20249	0.0:0.6289:0.0:0.3711	.	111	Q9Y666	S12A7_HUMAN	L	111	ENSP00000264930:R111L	ENSP00000264930:R111L	R	-	2	0	SLC12A7	1146658	0.000000	0.05858	0.022000	0.16811	0.029000	0.11900	0.545000	0.23268	0.757000	0.33036	0.455000	0.32223	CGG		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		4	1	1	0	0.00909568	1	0.00930008	4	1				
IL2	3558	broad.mit.edu	37	4	123374885	123374885	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:123374885C>T	ENST00000226730.4	-	3	615	c.331G>A	c.(331-333)Gta>Ata	p.V111I		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	111					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)	p.V111L(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	AGAACTATTACGTTGATATTG	0.353			T	TNFRSF17	intestinal T-cell lymphoma																																	ENST00000226730.4				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		1	Substitution - Missense(1)	p.V111L(1)	endometrium(1)	endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(331-333)Gta>Ata		interleukin 2							140.0	139.0	140.0					4																	123374885		2203	4300	6503	SO:0001583	missense	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123374885C>T	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.331G>A	4.37:g.123374885C>T	ENSP00000226730:p.Val111Ile						p.V111I	NM_000586.3	NP_000577.2	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	3	615	-			111					P01585	Missense_Mutation	SNP	ENST00000226730.4	37	c.331G>A	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	C	1.799	-0.477621	0.04414	.	.	ENSG00000109471	ENST00000226730	.	.	.	4.1	0.342	0.15996	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.727889	0.11874	N	0.521135	T	0.29652	0.0740	L	0.46819	1.47	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22871	-1.0204	9	0.34782	T	0.22	-1.5625	3.0734	0.06239	0.1897:0.4846:0.0:0.3257	.	111	P60568	IL2_HUMAN	I	111	.	ENSP00000226730:V111I	V	-	1	0	IL2	123594335	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	0.123000	0.15708	0.021000	0.15133	-0.384000	0.06662	GTA		0.353	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			16	18	0	0	0	1	0	16	18				
EFCAB2	84288	broad.mit.edu	37	1	245246946	245246946	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:245246946G>T	ENST00000366522.2	+	7	878	c.737G>T	c.(736-738)gGg>gTg	p.G246V	EFCAB2_ENST00000447569.2_Missense_Mutation_p.G110V|EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000366523.1_Missense_Mutation_p.G110V			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	246	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			GCTAAACGTGGGTTTCTTACT	0.294																																						ENST00000366522.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13						c.(736-738)gGg>gTg		EF-hand calcium binding domain 2							75.0	73.0	74.0					1																	245246946		2203	4300	6503	SO:0001583	missense	84288						calcium ion binding	g.chr1:245246946G>T	AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"""EF-hand domain containing"""	28166	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 8"""					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.737G>T	1.37:g.245246946G>T	ENSP00000355479:p.Gly246Val					EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000447569.2_Missense_Mutation_p.G110V|EFCAB2_ENST00000366523.1_Missense_Mutation_p.G110V	p.G246V			Q5VUJ9	EFCB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.015)		7	878	+	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		246			EF-hand 2.		B4DZE9|Q59G23|Q9BS36	Missense_Mutation	SNP	ENST00000366522.2	37	c.737G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.15|17.15|17.15	3.315193|3.315193|3.315193	0.60524|0.60524|0.60524	.|.|.	.|.|.	ENSG00000203666|ENSG00000203666|ENSG00000203666	ENST00000551317;ENST00000425550;ENST00000427529|ENST00000366523;ENST00000366522;ENST00000447569|ENST00000366521	D;D|D;D;D|.	0.85556|0.87650|.	-2.0;-2.0|-2.28;-2.0;-2.0|.	5.93|5.93|5.93	5.02|5.02|5.02	0.67125|0.67125|0.67125	.|EF-hand-like domain (1);|.	0.000000|0.000000|.	0.64402|0.64402|.	D|D|.	0.000001|0.000001|.	T|T|T	0.77246|0.77246|0.77246	0.4102|0.4102|0.4102	M|M|M	0.84683|0.84683|0.84683	2.71|2.71|2.71	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0|.	.|D;D;D;D|.	.|0.91635|.	.|0.998;0.995;0.999;0.993|.	T|T|T	0.79750|0.79750|0.79750	-0.1672|-0.1672|-0.1672	7|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	13.0208|13.0208|13.0208	0.58787|0.58787|0.58787	0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0	.|.|.	.|110;168;246;110|.	.|B4DZE9;B1AN33;Q5VUJ9;Q5VUJ9-2|.	.|.;.;EFCB2_HUMAN;.|.	C|V|C	102;102;18|110;246;110|168	ENSP00000447807:G102C;ENSP00000405269:G102C|ENSP00000355480:G110V;ENSP00000355479:G246V;ENSP00000408661:G110V|.	.|ENSP00000355479:G246V|.	G|G|W	+|+|+	1|2|3	0|0|0	EFCAB2|EFCAB2|EFCAB2	243313569|243313569|243313569	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.877000|0.877000|0.877000	0.34402|0.34402|0.34402	0.531000|0.531000|0.531000	0.34715|0.34715|0.34715	6.820000|6.820000|6.820000	0.75267|0.75267|0.75267	1.532000|1.532000|1.532000	0.49169|0.49169|0.49169	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGT|GGG|TGG		0.294	EFCAB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000097407.2			4	2	1	0	0.00024832	1	0.000265848	4	2				
CSTF2	1478	broad.mit.edu	37	X	100079128	100079128	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:100079128C>A	ENST00000372972.2	+	6	600	c.584C>A	c.(583-585)aCa>aAa	p.T195K	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.T195K	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	195	Interactions with CSTF3 and SYMPK.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CATCGCCAGACAAATATCCCA	0.473																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(583-585)aCa>aAa		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							100.0	96.0	97.0					X																	100079128		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100079128C>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.584C>A	X.37:g.100079128C>A	ENSP00000362063:p.Thr195Lys					CSTF2_ENST00000372972.2_Missense_Mutation_p.T195K|CSTF2_ENST00000486615.1_Intron	p.T195K			P33240	CSTF2_HUMAN			6	606	+			195			Interactions with CSTF3 and SYMPK.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.584C>A	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743094	0.49151	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.13657	2.73;2.71;2.57	5.59	5.59	0.84812	.	0.188085	0.56097	D	0.000023	T	0.12092	0.0294	L	0.34521	1.04	0.52501	D	0.999956	B;B;B	0.18310	0.016;0.027;0.016	B;B;B	0.19666	0.011;0.026;0.011	T	0.08889	-1.0700	10	0.07175	T	0.84	-11.682	18.6444	0.91406	0.0:1.0:0.0:0.0	.	195;195;195	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	K	195;195;195;186	ENSP00000387996:T195K;ENSP00000362063:T195K;ENSP00000415705:T186K	ENSP00000362063:T195K	T	+	2	0	CSTF2	99965784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.117000	0.71577	2.346000	0.79739	0.600000	0.82982	ACA		0.473	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		30	84	1	0	2.80507e-11	1	3.23116e-11	30	84				
MRC2	9902	broad.mit.edu	37	17	60758178	60758178	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:60758178C>T	ENST00000303375.5	+	17	2893	c.2491C>T	c.(2491-2493)Cgc>Tgc	p.R831C	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	831					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGAATGGCTGCGCTTCCAGGA	0.726																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2491-2493)Cgc>Tgc		mannose receptor, C type 2							18.0	18.0	18.0					17																	60758178		2201	4296	6497	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60758178C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2491C>T	17.37:g.60758178C>T	ENSP00000307513:p.Arg831Cys						p.R831C	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			17	2893	+			831					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2491C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361967	0.41801	.	.	ENSG00000011028	ENST00000303375	T	0.16897	2.31	5.09	4.05	0.47172	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.642690	0.16067	N	0.231218	T	0.14614	0.0353	L	0.44542	1.39	0.28711	N	0.903524	P	0.47762	0.9	B	0.39299	0.296	T	0.06285	-1.0835	10	0.38643	T	0.18	-18.692	11.0303	0.47769	0.3784:0.6216:0.0:0.0	.	831	Q9UBG0	MRC2_HUMAN	C	831	ENSP00000307513:R831C	ENSP00000307513:R831C	R	+	1	0	MRC2	58111910	0.954000	0.32549	1.000000	0.80357	0.777000	0.43975	2.012000	0.40932	2.354000	0.79902	0.561000	0.74099	CGC		0.726	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			13	39	0	0	0	1	0	13	39				
NHS	4810	broad.mit.edu	37	X	17750472	17750472	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:17750472A>G	ENST00000380060.3	+	8	5119	c.4781A>G	c.(4780-4782)tAc>tGc	p.Y1594C	NHS_ENST00000398097.3_Missense_Mutation_p.Y1438C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1615					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)					AGCAGCCGCTACAGTGTCCGC	0.592																																						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.(4780-4782)tAc>tGc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							50.0	50.0	50.0					X																	17750472		2201	4300	6501	SO:0001583	missense	4810					nucleus		g.chrX:17750472A>G		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.4781A>G	X.37:g.17750472A>G	ENSP00000369400:p.Tyr1594Cys					NHS_ENST00000398097.3_Missense_Mutation_p.Y1438C	p.Y1594C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	5119	+	Hepatocellular(33;0.183)		1594					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4781A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565959	0.86439	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.74526	-0.84;-0.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87053	0.2148	10	0.87932	D	0	-18.4176	15.4001	0.74834	1.0:0.0:0.0:0.0	.	1615;1436;1438;1594	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	1594;1438;1436	ENSP00000369400:Y1594C;ENSP00000381170:Y1438C	ENSP00000369397:Y1436C	Y	+	2	0	NHS	17660393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.902000	0.92568	2.088000	0.63022	0.486000	0.48141	TAC		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		64	50	0	0	0	1	0	64	50				
RNMT	8731	broad.mit.edu	37	18	13741541	13741541	+	Silent	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr18:13741541A>G	ENST00000383314.2	+	7	1065	c.825A>G	c.(823-825)caA>caG	p.Q275Q	RNMT_ENST00000592764.1_Silent_p.Q275Q|RNMT_ENST00000262173.3_Silent_p.Q275Q|RNMT_ENST00000589866.1_Silent_p.Q275Q|RNMT_ENST00000543302.2_Silent_p.Q275Q|RNMT_ENST00000535051.1_Silent_p.Q33Q			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	275	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTGACCCACAAATGTGTTTTG	0.348																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(823-825)caA>caG		RNA (guanine-7-) methyltransferase							131.0	122.0	125.0					18																	13741541		2203	4300	6503	SO:0001819	synonymous_variant	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13741541A>G	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.825A>G	18.37:g.13741541A>G						RNMT_ENST00000589866.1_Silent_p.Q275Q|RNMT_ENST00000543302.2_Silent_p.Q275Q|RNMT_ENST00000535051.1_Silent_p.Q33Q|RNMT_ENST00000592764.1_Silent_p.Q275Q|RNMT_ENST00000262173.3_Silent_p.Q275Q	p.Q275Q			O43148	MCES_HUMAN			7	1065	+			275					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Silent	SNP	ENST00000383314.2	37	c.825A>G	CCDS11867.1																																																																																				0.348	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		11	31	0	0	0	1	0	11	31				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	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	0							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					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							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		6	131	0	0	0	1	0	6	131				
SCN11A	11280	broad.mit.edu	37	3	38949535	38949535	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:38949535G>C	ENST00000302328.3	-	10	1576	c.1378C>G	c.(1378-1380)Ctc>Gtc	p.L460V	SCN11A_ENST00000450244.1_Missense_Mutation_p.L460V|SCN11A_ENST00000456224.3_Missense_Mutation_p.L460V|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000444237.2_Missense_Mutation_p.L460V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	460					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTACCAAAGAGCTTTCTCTTT	0.393																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1378-1380)Ctc>Gtc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						95.0	102.0	100.0					3																	38949535		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38949535G>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1378C>G	3.37:g.38949535G>C	ENSP00000307599:p.Leu460Val					SCN11A_ENST00000456224.3_Missense_Mutation_p.L460V|SCN11A_ENST00000444237.2_Missense_Mutation_p.L460V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L460V	p.L460V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	10	1576	-			460					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1378C>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	8.219	0.802132	0.16397	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96073	-3.9;-3.9;-3.86;-3.77	4.89	-0.106	0.13596	.	1.796430	0.02858	N	0.129874	D	0.85435	0.5696	N	0.12961	0.28	0.09310	N	1	P	0.37781	0.608	B	0.27380	0.079	T	0.81265	-0.1011	10	0.12766	T	0.61	.	0.2398	0.00191	0.2492:0.1663:0.289:0.2956	.	460	Q9UI33	SCNBA_HUMAN	V	460	ENSP00000307599:L460V;ENSP00000400945:L460V;ENSP00000416757:L460V;ENSP00000408028:L460V	ENSP00000307599:L460V	L	-	1	0	SCN11A	38924539	0.000000	0.05858	0.977000	0.42913	0.754000	0.42855	-0.447000	0.06828	-0.029000	0.13827	0.460000	0.39030	CTC		0.393	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		32	42	0	0	0	1	0	32	42				
ASTN1	460	broad.mit.edu	37	1	176838076	176838076	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:176838076C>A	ENST00000367654.3	-	22	3786	c.3575G>T	c.(3574-3576)gGt>gTt	p.G1192V	ASTN1_ENST00000367657.3_Missense_Mutation_p.G1184V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1184V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1184V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1192					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGGGGAACCCAGATCCAG	0.512																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3574-3576)gGt>gTt		astrotactin 1							168.0	155.0	160.0					1																	176838076		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838076C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3575G>T	1.37:g.176838076C>A	ENSP00000356626:p.Gly1192Val					ASTN1_ENST00000367657.3_Missense_Mutation_p.G1184V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1184V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1184V	p.G1192V			O14525	ASTN1_HUMAN			22	3588	-			1192					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3575G>T		.	.	.	.	.	.	.	.	.	.	C	16.53	3.149996	0.57151	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15139	2.45;2.86;2.86;2.45	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.976	T	0.03619	-1.1019	10	0.72032	D	0.01	-21.4986	19.4429	0.94831	0.0:1.0:0.0:0.0	.	1184;1184	O14525-2;B1AJS1	.;.	V	1184;1184;1192;1184;1184	ENSP00000356629:G1184V;ENSP00000354536:G1184V;ENSP00000356626:G1192V;ENSP00000395041:G1184V	ENSP00000354536:G1184V	G	-	2	0	ASTN1	175104699	1.000000	0.71417	0.985000	0.45067	0.103000	0.19146	4.688000	0.61715	2.698000	0.92095	0.655000	0.94253	GGT		0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		29	46	1	0	8.58068e-18	1	1.00108e-17	29	46				
OSTN	344901	broad.mit.edu	37	3	190967905	190967905	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:190967905G>A	ENST00000339051.1	+	3	397	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	133					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AAATTCCAGAGGCTAATTGAT	0.368																																						ENST00000339051.1																			0				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13						c.(397-399)Ggc>Agc		osteocrin							95.0	99.0	98.0					3																	190967905		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190967905G>A	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.397G>A	3.37:g.190967905G>A	ENSP00000342356:p.Gly133Ser					OSTN_ENST00000445281.1_Intron	p.G133S	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	3	397	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		133					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.397G>A	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612943	0.87258	.	.	ENSG00000188729	ENST00000339051	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	M	0.61703	1.905	0.44694	D	0.997681	D	0.89917	1.0	D	0.91635	0.999	T	0.78494	-0.2182	9	0.87932	D	0	-45.2696	14.7921	0.69851	0.0:0.0:1.0:0.0	.	133	P61366	OSTN_HUMAN	S	133	.	ENSP00000342356:G133S	G	+	1	0	OSTN	192450599	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.209000	0.51122	2.566000	0.86566	0.655000	0.94253	GGC		0.368	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		43	60	0	0	0	1	0	43	60				
AKAP8L	26993	broad.mit.edu	37	19	15512057	15512057	+	Silent	SNP	G	G	A	rs371825174		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:15512057G>A	ENST00000397410.5	-	5	850	c.720C>T	c.(718-720)ggC>ggT	p.G240G	AKAP8L_ENST00000595465.2_Silent_p.G179G|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	240						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCGGGAAGGCGCCCCCACCTC	0.642																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(718-720)ggC>ggT		A kinase (PRKA) anchor protein 8-like		G		1,3901		0,1,1950	95.0	110.0	105.0		720	-1.2	0.9	19		105	0,8280		0,0,4140	no	coding-synonymous	AKAP8L	NM_014371.2		0,1,6090	AA,AG,GG		0.0,0.0256,0.0082		240/647	15512057	1,12181	1951	4140	6091	SO:0001819	synonymous_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512057G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.720C>T	19.37:g.15512057G>A						AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Silent_p.G179G	p.G240G	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	784	-			240					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	c.720C>T	CCDS46005.1																																																																																				0.642	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		60	79	0	0	0	1	0	60	79				
GALC	2581	broad.mit.edu	37	14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T	rs200378205	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). {ECO:0000269|PubMed:10234611}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		15418	0.002		0.0	False		,,,				2504	0.0					ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM990620	GALC	M		c.(1591-1593)cGc>cAc		galactosylceramidase							123.0	119.0	120.0					14																	88411975		1885	4098	5983	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411975C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1592G>A	14.37:g.88411975C>T	ENSP00000261304:p.Arg531His					GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	p.R531H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			14	1698	-			531		R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1592G>A	CCDS9878.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.14	3.314547	0.60524	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.5	4.61	0.57282	.	0.048176	0.85682	D	0.000000	D	0.97745	0.9260	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	D	0.98792	1.0736	10	0.87932	D	0	-13.106	15.9398	0.79745	0.1363:0.8637:0.0:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	H	531;475;505;320;508	ENSP00000261304:R531H;ENSP00000437513:R475H;ENSP00000377199:R505H;ENSP00000377198:R508H	ENSP00000261304:R531H	R	-	2	0	GALC	87481728	1.000000	0.71417	0.840000	0.33206	0.012000	0.07955	7.637000	0.83313	1.441000	0.47550	0.585000	0.79938	CGC		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			24	28	0	0	0	1	0	24	28				
BCRP7	100133163	broad.mit.edu	37	22	18846113	18846113	+	3'UTR	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr22:18846113C>T	ENST00000412938.1	+	0	3471																											ATCTCCTCCACGCACTGGCGC	0.612																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846113C>T																												ENST00000412938.1:c.*3468C>T	22.37:g.18846113C>T														0	3471	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.612	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	13	0	0	0	1	0	5	13				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	71	0	0	0	1	0	4	71				
ZNF615	284370	broad.mit.edu	37	19	52496399	52496399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:52496399G>A	ENST00000602063.1	-	6	2279	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R655*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R649*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R644*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R655*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	644					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTGTGAAATCGCTGATGTTGT	0.383																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1930-1932)Cga>Tga		zinc finger protein 615							164.0	163.0	163.0					19																	52496399		2203	4300	6503	SO:0001587	stop_gained	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496399G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1930C>T	19.37:g.52496399G>A	ENSP00000473089:p.Arg644*					ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R644*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R655*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R649*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R655*	p.R644*			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2279	-		all_neural(266;0.117)	644					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Nonsense_Mutation	SNP	ENST00000602063.1	37	c.1930C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320580	0.95682	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	.	.	.	3.04	-0.779	0.10973	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3564	0.43967	0.0:0.0:0.5213:0.4787	.	.	.	.	X	644;654;649;598	.	ENSP00000347019:R654X	R	-	1	2	ZNF615	57188211	0.000000	0.05858	0.451000	0.26982	0.940000	0.58332	-0.264000	0.08658	-0.372000	0.07992	-1.028000	0.02416	CGA		0.383	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		89	44	0	0	0	1	0	89	44				
FAM86EP	348926	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:3952901A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CACCGGGCATACTTGACTGAC	0.552																																						ENST00000281228.8																			0																																																			0							g.chr4:3952901A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952901A>T						FAM86EP_ENST00000313946.8_RNA								0	206	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.552	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	36	0	0	0	1	0	4	36				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			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.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	94	0	0	0	1	0	6	94				
FABP7	2173	broad.mit.edu	37	6	123102370	123102370	+	Intron	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:123102370G>T	ENST00000368444.3	+	3	668				FABP7_ENST00000356535.4_Missense_Mutation_p.V127F	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain						cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	ATTCTTCCTTGTTTTTTTCTC	0.398																																						ENST00000356535.4																			0				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(379-381)Gtt>Ttt		fatty acid binding protein 7, brain	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)						89.0	87.0	87.0					6																	123102370		2203	4300	6503	SO:0001627	intron_variant	2173				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	g.chr6:123102370G>T	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"""Fatty acid binding protein family"""	3562	protein-coding gene	gene with protein product	"""brain lipid binding protein"""	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.348+31G>T	6.37:g.123102370G>T						FABP7_ENST00000368444.3_Intron	p.V127F			O15540	FABP7_HUMAN		GBM - Glioblastoma multiforme(226;0.226)	3	415	+			0			Fatty acid binding.		B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP	ENST00000368444.3	37	c.379G>T	CCDS5127.1	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046105	0.19748	.	.	ENSG00000164434	ENST00000356535	T	0.17691	2.26	3.07	-6.13	0.02118	.	.	.	.	.	T	0.01592	0.0051	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35624	-0.9781	7	.	.	.	.	1.222	0.01926	0.2134:0.1699:0.3467:0.2701	.	127	Q9H047	.	F	127	ENSP00000348931:V127F	.	V	+	1	0	FABP7	123144069	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-1.619000	0.02048	-3.213000	0.00214	0.305000	0.20034	GTT		0.398	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446		3	19	1	0	1	1	1	3	19				
TRIM71	131405	broad.mit.edu	37	3	32933116	32933116	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:32933116G>A	ENST00000383763.5	+	4	2483	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	807					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGGAAGGGCGCATCATTGTG	0.597																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2419-2421)cGc>cAc		tripartite motif containing 71, E3 ubiquitin protein ligase							89.0	95.0	93.0					3																	32933116		2053	4201	6254	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933116G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2420G>A	3.37:g.32933116G>A	ENSP00000373272:p.Arg807His						p.R807H	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2483	+			807						Missense_Mutation	SNP	ENST00000383763.5	37	c.2420G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871648	0.33069	.	.	ENSG00000206557	ENST00000383763	T	0.71817	-0.6	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	N	0.04245	-0.25	0.80722	D	1	B	0.26845	0.161	B	0.15052	0.012	T	0.49204	-0.8964	10	0.13470	T	0.59	-38.5	18.4265	0.90611	0.0:0.0:1.0:0.0	.	807	Q2Q1W2	LIN41_HUMAN	H	807	ENSP00000373272:R807H	ENSP00000373272:R807H	R	+	2	0	TRIM71	32908120	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.762000	0.98944	2.687000	0.91594	0.655000	0.94253	CGC		0.597	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		4	116	0	0	0	1	0	4	116				
WASH3P	374666	broad.mit.edu	37	15	102516500	102516500	+	RNA	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr15:102516500C>T	ENST00000557932.1	+	0	1448				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CCCCCAGACCCAGACTTGGGC	0.632																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516500C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516500C>T														0	1448	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.632	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		11	29	0	0	0	1	0	11	29				
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1117-1119)gCg>gTg		transmembrane protein 132D							76.0	72.0	73.0					12																	129822360		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822360G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1118C>T	12.37:g.129822360G>A	ENSP00000408581:p.Ala373Val						p.A373V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	373					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1118C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		89	13	0	0	0	1	0	89	13				
ADCY2	108	broad.mit.edu	37	5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:7709333C>T	ENST00000338316.4	+	10	1500	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	471					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAGAACGACGGAGCCCCCA	0.587																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1411-1413)Cgg>Tgg		adenylate cyclase 2 (brain)							63.0	59.0	61.0					5																	7709333		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709333C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1411C>T	5.37:g.7709333C>T	ENSP00000342952:p.Arg471Trp					RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W	p.R471W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			10	1500	+			471					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1411C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539393	0.65085	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82167	-1.11;-1.58	5.62	2.72	0.32119	.	0.231720	0.35708	N	0.003037	D	0.82935	0.5145	L	0.42245	1.32	0.32307	N	0.564209	D;D	0.69078	0.997;0.995	P;P	0.57468	0.821;0.757	D	0.84299	0.0504	10	0.72032	D	0.01	.	8.6077	0.33784	0.3958:0.5374:0.0:0.0668	.	291;471	B7Z2C1;Q08462	.;ADCY2_HUMAN	W	471;322;291	ENSP00000342952:R471W;ENSP00000444803:R291W	ENSP00000342952:R471W	R	+	1	2	ADCY2	7762333	0.911000	0.30947	0.623000	0.29173	0.932000	0.56968	1.452000	0.35156	0.704000	0.31869	-0.319000	0.08680	CGG		0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		15	24	0	0	0	1	0	15	24				
SQSTM1	8878	broad.mit.edu	37	5	179251284	179251284	+	Missense_Mutation	SNP	C	C	T	rs201263163		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:179251284C>T	ENST00000389805.4	+	4	812	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	SQSTM1_ENST00000510187.1_Missense_Mutation_p.R212C|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000402874.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R128C	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	212	Interaction with GABRR3. {ECO:0000250}.|LIM protein-binding (LB).				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGTCCTCCTCGTGCAGGGGA	0.622																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(634-636)Cgt>Tgt		sequestosome 1		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	54.0	59.0	57.0		382,382,634	3.7	0.5	5		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SQSTM1	NM_001142298.1,NM_001142299.1,NM_003900.4	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	128/357,128/357,212/441	179251284	1,13005	2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179251284C>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.634C>T	5.37:g.179251284C>T	ENSP00000374455:p.Arg212Cys					SQSTM1_ENST00000402874.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R128C|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R212C	p.R212C	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	812	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	212			Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.634C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541000	0.27563	0.0	1.16E-4	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;T;D;D;T;D	0.82893	-1.66;1.84;1.46;-1.66;-1.66;2.4;-1.66	4.61	3.72	0.42706	.	0.628331	0.17023	N	0.190047	T	0.78168	0.4241	L	0.44542	1.39	0.26976	N	0.965472	P;D	0.56287	0.9;0.975	B;B	0.44315	0.2;0.446	T	0.69514	-0.5125	10	0.46703	T	0.11	-3.7211	10.9568	0.47362	0.0:0.8099:0.1901:0.0	.	212;212	Q13501;E7EMC7	SQSTM_HUMAN;.	C	128;128;128;212;68;128;212;128	ENSP00000366128:R128C;ENSP00000427308:R128C;ENSP00000394534:R128C;ENSP00000374455:R212C;ENSP00000385553:R128C;ENSP00000424477:R212C;ENSP00000353944:R128C	ENSP00000353944:R128C	R	+	1	0	SQSTM1	179183890	0.011000	0.17503	0.454000	0.27019	0.198000	0.23893	0.248000	0.18198	1.039000	0.40074	-0.305000	0.09177	CGT		0.622	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			19	29	0	0	0	1	0	19	29				
HIST1H3G	8355	broad.mit.edu	37	6	26271424	26271424	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:26271424G>A	ENST00000305910.3	-	1	188	c.189C>T	c.(187-189)atC>atT	p.I63I	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	63					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCAACTTGCGGATCAGCAGCT	0.617																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(187-189)atC>atT		histone cluster 1, H3g							75.0	77.0	76.0					6																	26271424		2203	4300	6503	SO:0001819	synonymous_variant	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271424G>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.189C>T	6.37:g.26271424G>A							p.I63I	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	188	-			63					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000305910.3	37	c.189C>T	CCDS4602.1																																																																																				0.617	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		49	96	0	0	0	1	0	49	96				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>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.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	99	0	0	0	1	0	4	99				
LARP1B	55132	broad.mit.edu	37	4	129128488	129128488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:129128488C>T	ENST00000326639.6	+	19	2708	c.2497C>T	c.(2497-2499)Ctt>Ttt	p.L833F	LARP1B_ENST00000264584.5_Missense_Mutation_p.L774F|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L252F|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	833						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TGACCCAAAACTTCAGGAATA	0.313																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2497-2499)Ctt>Ttt		La ribonucleoprotein domain family, member 1B							57.0	61.0	59.0					4																	129128488		2202	4292	6494	SO:0001583	missense	55132						RNA binding	g.chr4:129128488C>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2497C>T	4.37:g.129128488C>T	ENSP00000321997:p.Leu833Phe					LARP1B_ENST00000264584.5_Missense_Mutation_p.L774F|LARP1B_ENST00000354456.3_Missense_Mutation_p.L252F|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR	p.L833F	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			19	2708	+			833					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.2497C>T	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561895	0.45590	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.04049	3.72;3.72;3.72	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.24586	0.0596	M	0.89968	3.075	0.47994	D	0.999564	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.01909	-1.1249	10	0.87932	D	0	.	10.6408	0.45592	0.0:0.9123:0.0:0.0877	.	43;252;833	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	F	833;774;252	ENSP00000321997:L833F;ENSP00000264584:L774F;ENSP00000346444:L252F	ENSP00000264584:L774F	L	+	1	0	LARP1B	129347938	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.672000	0.54583	2.211000	0.71520	0.561000	0.74099	CTT		0.313	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		10	9	0	0	0	1	0	10	9				
OR51E2	81285	broad.mit.edu	37	11	4703777	4703777	+	Silent	SNP	G	G	A	rs376037939	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:4703777G>A	ENST00000396950.3	-	2	404	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	55					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		21712	0.0		0.0	False		,,,				2504	0.0031					ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(163-165)caC>caT		olfactory receptor, family 51, subfamily E, member 2		G		0,4402		0,0,2201	117.0	98.0	104.0		165	-2.8	0.0	11		104	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR51E2	NM_030774.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		55/321	4703777	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703777G>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.165C>T	11.37:g.4703777G>A							p.H55H	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	404	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	55					B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	37	c.165C>T	CCDS7751.1																																																																																				0.517	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		6	77	0	0	0	1	0	6	77				
PARP14	54625	broad.mit.edu	37	3	122420030	122420030	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:122420030G>A	ENST00000474629.2	+	6	2895	c.2629G>A	c.(2629-2631)Gtg>Atg	p.V877M		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	877	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTACCACCACGTGATCCATGC	0.577																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(2629-2631)Gtg>Atg		poly (ADP-ribose) polymerase family, member 14							29.0	30.0	29.0					3																	122420030		1995	4154	6149	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420030G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2629G>A	3.37:g.122420030G>A	ENSP00000418194:p.Val877Met						p.V877M	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	2895	+			877			Macro 1.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2629G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365398	0.61513	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.35789	1.29	6.06	5.19	0.71726	Appr-1-p processing (3);	0.090614	0.46758	N	0.000275	T	0.73218	0.3559	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.744;0.998	D	0.83494	0.0071	10	0.87932	D	0	.	14.27	0.66147	0.0718:0.0:0.9282:0.0	.	877;877	Q460N5-4;Q460N5	.;PAR14_HUMAN	M	877;796	ENSP00000418194:V877M	ENSP00000381228:V796M	V	+	1	0	PARP14	123902720	0.995000	0.38212	0.882000	0.34594	0.147000	0.21601	2.188000	0.42612	1.577000	0.49804	-0.150000	0.13652	GTG		0.577	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		10	46	0	0	0	1	0	10	46				
SLC7A3	84889	broad.mit.edu	37	X	70147405	70147405	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:70147405C>T	ENST00000374299.3	-	7	1256	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R371H			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	371					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAAGTACACGGAACAGGAG	0.587																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1111-1113)cGt>cAt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						102.0	67.0	79.0					X																	70147405		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147405C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1112G>A	X.37:g.70147405C>T	ENSP00000363417:p.Arg371His					SLC7A3_ENST00000298085.4_Missense_Mutation_p.R371H	p.R371H			Q8WY07	CTR3_HUMAN			7	1256	-	Renal(35;0.156)		371					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1112G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889718	0.33348	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90844	-2.74;-2.74	4.96	1.49	0.22878	Amino acid permease domain (1);	0.312400	0.33496	N	0.004850	D	0.88284	0.6395	M	0.70595	2.14	0.36344	D	0.859655	B	0.19583	0.037	B	0.27715	0.082	D	0.83729	0.0197	10	0.66056	D	0.02	.	7.7656	0.28978	0.0:0.4054:0.0:0.5946	.	371	Q8WY07	CTR3_HUMAN	H	371	ENSP00000363417:R371H;ENSP00000298085:R371H	ENSP00000298085:R371H	R	-	2	0	SLC7A3	70064130	0.035000	0.19736	0.180000	0.23079	0.826000	0.46750	0.402000	0.20965	0.077000	0.16863	0.436000	0.28706	CGT		0.587	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		12	30	0	0	0	1	0	12	30				
ATP7A	538	broad.mit.edu	37	X	77298882	77298882	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:77298882A>C	ENST00000341514.6	+	21	4228	c.4073A>C	c.(4072-4074)aAt>aCt	p.N1358T	ATP7A_ENST00000350425.4_Missense_Mutation_p.N361T|ATP7A_ENST00000343533.5_Missense_Mutation_p.N1280T	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1358					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTCGGATAAATTTTGTCTTT	0.343																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4072-4074)aAt>aCt		ATPase, Cu++ transporting, alpha polypeptide							151.0	148.0	149.0					X																	77298882		2203	4298	6501	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77298882A>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4073A>C	X.37:g.77298882A>C	ENSP00000345728:p.Asn1358Thr					ATP7A_ENST00000350425.4_Missense_Mutation_p.N361T|ATP7A_ENST00000343533.5_Missense_Mutation_p.N1280T	p.N1358T	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			21	4228	+			1358					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4073A>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023494	0.75390	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.99716	-6.51;-6.51;-6.51	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.96333	3.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96791	0.9582	10	0.87932	D	0	-20.874	14.4366	0.67284	1.0:0.0:0.0:0.0	.	1358	Q04656	ATP7A_HUMAN	T	1280;361;1358	ENSP00000343026:N1280T;ENSP00000343678:N361T;ENSP00000345728:N1358T	ENSP00000345728:N1358T	N	+	2	0	ATP7A	77185538	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	8.859000	0.92264	1.788000	0.52465	0.486000	0.48141	AAT		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		32	53	0	0	0	1	0	32	53				
SMC4	10051	broad.mit.edu	37	3	160137275	160137275	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:160137275G>C	ENST00000357388.3	+	12	2252	c.1801G>C	c.(1801-1803)Gat>Cat	p.D601H	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.D601H|SMC4_ENST00000360111.2_Missense_Mutation_p.D601H|SMC4_ENST00000469762.1_Missense_Mutation_p.D576H|SMC4_ENST00000344722.5_Missense_Mutation_p.D601H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	601	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAAGTCCTTGATGCAATAAT	0.338																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1801-1803)Gat>Cat		structural maintenance of chromosomes 4							60.0	66.0	64.0					3																	160137275		2202	4299	6501	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160137275G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1801G>C	3.37:g.160137275G>C	ENSP00000349961:p.Asp601His					SMC4_ENST00000344722.5_Missense_Mutation_p.D601H|SMC4_ENST00000469762.1_Missense_Mutation_p.D576H|SMC4_ENST00000462787.1_Missense_Mutation_p.D601H|SMC4_ENST00000360111.2_Missense_Mutation_p.D601H|RP11-432B6.3_ENST00000483754.1_Intron	p.D601H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	2252	+			601			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1801G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176935	0.78564	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.04	5.0	0.66597	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.128394	0.64402	D	0.000001	D	0.92044	0.7479	M	0.83483	2.645	0.80722	D	1	P;P;D;P	0.58970	0.827;0.848;0.984;0.924	P;P;P;P	0.55455	0.448;0.622;0.776;0.742	D	0.92421	0.5945	10	0.56958	D	0.05	-34.8452	16.2231	0.82269	0.0732:0.0:0.9268:0.0	.	601;576;576;601	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	601;601;576;601;601;195	ENSP00000349961:D601H;ENSP00000353225:D601H;ENSP00000417964:D576H;ENSP00000420734:D601H;ENSP00000341382:D601H	ENSP00000341382:D601H	D	+	1	0	SMC4	161619969	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.364000	0.66110	2.873000	0.98535	0.563000	0.77884	GAT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			66	39	0	0	0	1	0	66	39				
MICAL1	64780	broad.mit.edu	37	6	109775014	109775014	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:109775014C>T	ENST00000358807.3	-	3	604	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	MICAL1_ENST00000368952.4_Missense_Mutation_p.R117Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.R98Q|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	98	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CACAGCGACCCGCAGCCCGCA	0.657																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(349-351)cGg>cAg		microtubule associated monooxygenase, calponin and LIM domain containing 1							70.0	64.0	66.0					6																	109775014		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109775014C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.293G>A	6.37:g.109775014C>T	ENSP00000351664:p.Arg98Gln					MICAL1_ENST00000358577.3_Missense_Mutation_p.R98Q|MICAL1_ENST00000358807.3_Missense_Mutation_p.R98Q	p.R117Q			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	3	640	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	98					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.350G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618195	0.96649	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.41	5.41	0.78517	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	N	0.04508	-0.205	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.57877	-0.7735	10	0.87932	D	0	.	16.7269	0.85424	0.0:1.0:0.0:0.0	.	117;98;98	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	Q	98;117;98;98	ENSP00000351664:R98Q;ENSP00000357948:R117Q;ENSP00000351385:R98Q;ENSP00000407075:R98Q	ENSP00000351385:R98Q	R	-	2	0	MICAL1	109881707	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	7.617000	0.83032	2.815000	0.96918	0.561000	0.74099	CGG		0.657	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		66	35	0	0	0	1	0	66	35				
UMOD	7369	broad.mit.edu	37	16	20352470	20352470	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:20352470T>G	ENST00000570689.1	-	7	1666	c.1520A>C	c.(1519-1521)tAt>tCt	p.Y507S	UMOD_ENST00000424589.1_Missense_Mutation_p.Y540S|UMOD_ENST00000302509.4_Missense_Mutation_p.Y507S|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.Y507S|UMOD_ENST00000396138.4_Missense_Mutation_p.Y556S|UMOD_ENST00000396134.2_Missense_Mutation_p.Y540S			P07911	UROM_HUMAN	uromodulin	507	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTGTGGCATAGCAGTTGGT	0.542																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1618-1620)tAt>tCt		uromodulin							116.0	93.0	101.0					16																	20352470		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352470T>G	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1520A>C	16.37:g.20352470T>G	ENSP00000460548:p.Tyr507Ser					UMOD_ENST00000302509.4_Missense_Mutation_p.Y507S|UMOD_ENST00000396142.2_Missense_Mutation_p.Y507S|UMOD_ENST00000570689.1_Missense_Mutation_p.Y507S|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.Y556S|UMOD_ENST00000424589.1_Missense_Mutation_p.Y540S	p.Y540S	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			8	1742	-			507			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1619A>C	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470063	0.63625	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.34	4.23	0.50019	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.155783	0.30419	N	0.009672	D	0.91546	0.7330	M	0.90650	3.135	0.38922	D	0.957765	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	D	0.92358	0.5895	10	0.87932	D	0	-15.4511	10.1115	0.42565	0.1501:0.0:0.0:0.8499	.	540;507	E9PEA4;P07911	.;UROM_HUMAN	S	507;540;540;507;485;507	ENSP00000379438:Y540S;ENSP00000416346:Y540S;ENSP00000306279:Y507S;ENSP00000379446:Y507S	ENSP00000306279:Y507S	Y	-	2	0	UMOD	20259971	0.344000	0.24827	0.988000	0.46212	0.977000	0.68977	0.461000	0.21940	0.939000	0.37446	0.533000	0.62120	TAT		0.542	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			16	25	0	0	0	1	0	16	25				
CYP4X1	260293	broad.mit.edu	37	1	47495700	47495700	+	Silent	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:47495700T>C	ENST00000371901.3	+	2	466	c.216T>C	c.(214-216)atT>atC	p.I72I	CYP4X1_ENST00000538609.1_Silent_p.I71I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	72						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTGAGGAAATTATTGAAAAAT	0.418																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(214-216)atT>atC		cytochrome P450, family 4, subfamily X, polypeptide 1							144.0	149.0	147.0					1																	47495700		2203	4300	6503	SO:0001819	synonymous_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47495700T>C	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.216T>C	1.37:g.47495700T>C						CYP4X1_ENST00000538609.1_Silent_p.I71I	p.I72I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			2	466	+			72					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	37	c.216T>C	CCDS544.1																																																																																				0.418	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		33	40	0	0	0	1	0	33	40				
PXN	5829	broad.mit.edu	37	12	120660787	120660787	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:120660787C>G	ENST00000228307.7	-	4	513	c.372G>C	c.(370-372)caG>caC	p.Q124H	PXN_ENST00000424649.2_Missense_Mutation_p.Q124H|PXN_ENST00000536957.1_Missense_Mutation_p.Q122H|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000267257.7_Missense_Mutation_p.Q124H	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	124					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGATTTCTGCTTGTTGG	0.522																																						ENST00000536957.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(364-366)caG>caC		paxillin							101.0	103.0	103.0					12																	120660787		2036	4185	6221	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120660787C>G	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.372G>C	12.37:g.120660787C>G	ENSP00000228307:p.Gln124His					PXN_ENST00000424649.2_Missense_Mutation_p.Q124H|PXN_ENST00000267257.7_Missense_Mutation_p.Q124H|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.Q124H|PXN_ENST00000538144.1_5'UTR	p.Q122H			P49023	PAXI_HUMAN			4	841	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		124					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.366G>C	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205639	0.58234	.	.	ENSG00000089159	ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.2	5.2	0.72013	.	0.059426	0.64402	D	0.000002	T	0.76593	0.4009	M	0.74258	2.255	0.80722	D	1	D;B	0.76494	0.999;0.02	D;B	0.85130	0.997;0.086	T	0.76735	-0.2850	10	0.44086	T	0.13	-10.9845	18.7469	0.91797	0.0:1.0:0.0:0.0	.	124;124	P49023-2;P49023	.;PAXI_HUMAN	H	124;124;122;124;125	ENSP00000228307:Q124H;ENSP00000391283:Q124H;ENSP00000443887:Q122H;ENSP00000267257:Q124H;ENSP00000443745:Q125H	ENSP00000228307:Q124H	Q	-	3	2	PXN	119145170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.480000	0.45206	2.442000	0.82660	0.591000	0.81541	CAG		0.522	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		25	28	0	0	0	1	0	25	28				
C1QTNF1	114897	broad.mit.edu	37	17	77042776	77042776	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:77042776G>A	ENST00000339142.2	+	4	850	c.295G>A	c.(295-297)Ggg>Agg	p.G99R	C1QTNF1_ENST00000311661.4_Splice_Site_p.G17R|C1QTNF1_ENST00000354124.3_Splice_Site_p.G109R|C1QTNF1_ENST00000580454.1_Splice_Site_p.G99R|C1QTNF1_ENST00000581774.1_Splice_Site_p.G99R|C1QTNF1_ENST00000392445.2_Splice_Site_p.G99R|C1QTNF1_ENST00000579760.1_Splice_Site_p.G99R|C1QTNF1_ENST00000578229.1_Splice_Site_p.G17R|C1QTNF1_ENST00000580474.1_Splice_Site_p.G99R|C1QTNF1_ENST00000583904.1_Splice_Site_p.G99R	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	99	Collagen-like.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TATCTTGAAAGGTCAGATGGC	0.627											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.e4+1		C1q and tumor necrosis factor related protein 1							68.0	68.0	68.0					17																	77042776		2203	4300	6503	SO:0001630	splice_region_variant	114897					collagen		g.chr17:77042776G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.295+1G>A	17.37:g.77042776G>A			OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000583904.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000581774.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580454.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580474.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000354124.3_Splice_Site_p.G109_splice|C1QTNF1_ENST00000578229.1_Splice_Site_p.G17_splice|C1QTNF1_ENST00000392445.2_Splice_Site_p.G99_splice|C1QTNF1_ENST00000311661.4_Splice_Site_p.G17_splice|C1QTNF1_ENST00000579760.1_Splice_Site_p.G99_splice	p.G99_splice	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	850	+			99			Collagen-like.		Q6ZMH6|Q96NF2|Q9GZR4	Splice_Site	SNP	ENST00000339142.2	37	c.295_splice	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.629964	0.87660	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.99353	-5.77;-5.77;-5.77	4.21	4.21	0.49690	.	0.093306	0.42682	D	0.000673	D	0.99576	0.9847	H	0.94734	3.575	0.53688	D	0.999971	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97739	1.0207	10	0.87932	D	0	.	17.1023	0.86653	0.0:0.0:1.0:0.0	.	109;109;99	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	R	99;17;109;99;109	ENSP00000340864:G99R;ENSP00000311265:G17R;ENSP00000343230:G109R	ENSP00000311265:G17R	G	+	1	0	C1QTNF1	74554371	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.806000	0.86020	2.312000	0.78011	0.556000	0.70494	GGG		0.627	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	Missense_Mutation	60	110	0	0	0	1	0	60	110				
BAGE2	85319	broad.mit.edu	37	21	11098920	11098920	+	RNA	SNP	A	A	G	rs78230864	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr21:11098920A>G	ENST00000470054.1	-	0	5							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gggagataccagagaccctaa	0.572																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098920A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098920A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	5	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.572	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	21	0	0	0	1	0	6	21				
RRP1	8568	broad.mit.edu	37	21	45217427	45217427	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr21:45217427G>A	ENST00000497547.1	+	6	664	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		AGTGGGCGCCGAGGAGGTGAG	0.637																																						ENST00000497547.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8						c.(547-549)Gag>Aag		ribosomal RNA processing 1							54.0	60.0	58.0					21																	45217427		2066	4184	6250	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45217427G>A	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.547G>A	21.37:g.45217427G>A	ENSP00000417464:p.Glu183Lys					RRP1_ENST00000471909.1_3'UTR	p.E183K	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	6	664	+			183					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.547G>A	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	5.484	0.274260	0.10403	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.41400	1.0	4.77	-8.65	0.00870	.	1.468930	0.03833	N	0.269374	T	0.18215	0.0437	N	0.11313	0.125	0.09310	N	1	B;P;B	0.35174	0.054;0.488;0.14	B;B;B	0.23419	0.006;0.046;0.006	T	0.34129	-0.9841	10	0.87932	D	0	.	8.2319	0.31603	0.4238:0.392:0.1842:0.0	.	183;50;183	B4DZM3;Q96J73;P56182	.;.;RRP1_HUMAN	K	183	ENSP00000417464:E183K	ENSP00000383237:E183K	E	+	1	0	RRP1	44041855	0.000000	0.05858	0.001000	0.08648	0.929000	0.56500	-0.070000	0.11523	-1.434000	0.01975	0.561000	0.74099	GAG		0.637	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		35	34	0	0	0	1	0	35	34				
KIAA0430	9665	broad.mit.edu	37	16	15729877	15729877	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:15729877G>A	ENST00000396368.3	-	3	673	c.467C>T	c.(466-468)tCt>tTt	p.S156F	KIAA0430_ENST00000548025.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S156F|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S156F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	156					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGAAGATGCAGACTGGAAAGC	0.512																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(466-468)tCt>tTt		KIAA0430							186.0	186.0	186.0					16																	15729877		2085	4221	6306	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729877G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.467C>T	16.37:g.15729877G>A	ENSP00000379654:p.Ser156Phe					KIAA0430_ENST00000548025.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S156F|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S156F	p.S156F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	673	-			155					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.467C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343553	0.82022	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742;ENST00000551298;ENST00000549219	.	.	.	5.55	5.55	0.83447	.	0.093331	0.47852	D	0.000203	T	0.64472	0.2601	N	0.24115	0.695	0.80722	D	1	D;D;D;D;P	0.67145	0.996;0.958;0.958;0.958;0.93	D;P;P;P;P	0.63192	0.912;0.735;0.735;0.735;0.548	T	0.68716	-0.5335	9	0.87932	D	0	.	19.5144	0.95157	0.0:0.0:1.0:0.0	.	155;155;156;155;155	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	F	156;156;155;156;156;156;156	.	ENSP00000315718:S155F	S	-	2	0	KIAA0430	15637378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	2.618000	0.88619	0.655000	0.94253	TCT		0.512	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		13	155	0	0	0	1	0	13	155				
ZNF585B	92285	broad.mit.edu	37	19	37677126	37677126	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:37677126T>A	ENST00000532828.2	-	5	1564	c.1313A>T	c.(1312-1314)tAt>tTt	p.Y438F	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.Y26F|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y383F|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCACATTTATAAGGTTTCTC	0.378																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1312-1314)tAt>tTt		zinc finger protein 585B							103.0	105.0	104.0					19																	37677126		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677126T>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1313A>T	19.37:g.37677126T>A	ENSP00000433773:p.Tyr438Phe					ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y383F|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.Y26F|CTC-454I21.3_ENST00000585860.2_Intron	p.Y438F	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1564	-			438					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1313A>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660503	0.29515	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.18338	2.22;2.22;2.22	2.35	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34088	N	0.004273	T	0.15262	0.0368	N	0.05608	-0.01	0.20403	N	0.999907	B;P	0.52061	0.002;0.95	B;D	0.65573	0.018;0.936	T	0.09100	-1.0690	10	0.38643	T	0.18	.	5.3257	0.15905	0.254:0.0:0.0:0.746	.	383;438	E9PQH3;Q52M93	.;Z585B_HUMAN	F	383;438;26	ENSP00000436774:Y383F;ENSP00000433773:Y438F;ENSP00000442139:Y26F	ENSP00000442139:Y26F	Y	-	2	0	ZNF585B	42368966	0.000000	0.05858	0.686000	0.30086	0.821000	0.46438	0.128000	0.15810	0.105000	0.17753	0.254000	0.18369	TAT		0.378	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		15	169	0	0	0	1	0	15	169				
FREM2	341640	broad.mit.edu	37	13	39262004	39262004	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr13:39262004G>T	ENST00000280481.7	+	1	739	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	175					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTGGAGGTGGTCTTCACCCA	0.677																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(523-525)Gtc>Ttc		FRAS1 related extracellular matrix protein 2							73.0	74.0	73.0					13																	39262004		2197	4298	6495	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262004G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.523G>T	13.37:g.39262004G>T	ENSP00000280481:p.Val175Phe						p.V175F	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	739	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	175					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.523G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874844	0.51695	.	.	ENSG00000150893	ENST00000280481	T	0.21191	2.02	4.93	2.06	0.26882	.	0.281827	0.34338	N	0.004043	T	0.21145	0.0509	L	0.53249	1.67	0.34721	D	0.728729	B	0.29590	0.25	B	0.35182	0.197	T	0.26467	-1.0102	10	0.40728	T	0.16	.	9.3567	0.38171	0.0899:0.5417:0.3684:0.0	.	175	Q5SZK8	FREM2_HUMAN	F	175	ENSP00000280481:V175F	ENSP00000280481:V175F	V	+	1	0	FREM2	38160004	0.919000	0.31177	0.999000	0.59377	0.995000	0.86356	0.312000	0.19397	1.255000	0.44051	0.655000	0.94253	GTC		0.677	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	6	1	0	0.000602214	1	0.000637227	5	6				
SUSD4	55061	broad.mit.edu	37	1	223402701	223402701	+	Missense_Mutation	SNP	C	C	T	rs370135332		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:223402701C>T	ENST00000343846.3	-	5	1387	c.754G>A	c.(754-756)Gga>Aga	p.G252R	SUSD4_ENST00000494793.2_Missense_Mutation_p.G252R|SUSD4_ENST00000366878.4_Missense_Mutation_p.G252R|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.G92R|SUSD4_ENST00000484758.2_Missense_Mutation_p.G183R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	252	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACGAAATCTCCGTGACTCACC	0.532																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(754-756)Gga>Aga		sushi domain containing 4		C	ARG/GLY	0,4222		0,0,2111	60.0	66.0	64.0		754	5.8	1.0	1		64	2,8494		1,0,4247	no	missense	SUSD4	NM_017982.3	125	1,0,6358	TT,TC,CC		0.0235,0.0,0.0157	probably-damaging	252/491	223402701	2,12716	2111	4248	6359	SO:0001583	missense	55061					integral to membrane		g.chr1:223402701C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.754G>A	1.37:g.223402701C>T	ENSP00000344219:p.Gly252Arg					SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.G92R|SUSD4_ENST00000366878.4_Missense_Mutation_p.G252R	p.G252R			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	5	1387	-			252			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.754G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438394	0.96168	0.0	2.35E-4	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.56611	0.45;0.45;0.45	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.46442	D	0.000288	T	0.74558	0.3732	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75900	-0.3154	10	0.87932	D	0	-14.0915	20.1257	0.97981	0.0:1.0:0.0:0.0	.	252	Q5VX71	SUSD4_HUMAN	R	252;252;183;92	ENSP00000344219:G252R;ENSP00000355843:G252R;ENSP00000399288:G92R	ENSP00000344219:G252R	G	-	1	0	SUSD4	221469324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	2.767000	0.95098	0.655000	0.94253	GGA		0.532	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	27	0	0	0	1	0	3	27				
TUBGCP5	114791	broad.mit.edu	37	15	22848945	22848945	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr15:22848945T>C	ENST00000283645.4	+	10	1122	c.992T>C	c.(991-993)aTt>aCt	p.I331T	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I331T	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	331					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAGGAGTTCATTGATGAAGTC	0.458																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(991-993)aTt>aCt		tubulin, gamma complex associated protein 5							155.0	139.0	145.0					15																	22848945		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22848945T>C	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.992T>C	15.37:g.22848945T>C	ENSP00000283645:p.Ile331Thr					TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I331T	p.I331T	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	10	1122	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	331					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.992T>C	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	17.36	3.370971	0.61624	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.08546	3.08;3.08	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00377	-1.1778	10	0.52906	T	0.07	-22.6322	15.7228	0.77728	0.0:0.0:0.0:1.0	.	331;331	Q96RT8;E9PB12	GCP5_HUMAN;.	T	331	ENSP00000283645:I331T;ENSP00000409217:I331T	ENSP00000283645:I331T	I	+	2	0	TUBGCP5	20400386	1.000000	0.71417	0.957000	0.39632	0.534000	0.34807	7.520000	0.81821	2.179000	0.69175	0.533000	0.62120	ATT		0.458	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		20	21	0	0	0	1	0	20	21				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	125	0	0	0	1	0	6	125				
GBAP1	2630	broad.mit.edu	37	1	155188471	155188471	+	RNA	DEL	C	C	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:155188471delC	ENST00000486869.1	-	0	96					NR_002188.2				glucosidase, beta, acid pseudogene 1																		TCAGGATGCTCCCCACCACTC	0.542																																						ENST00000486869.1																			0																																																			0							g.chr1:155188471delC	J03060		1q22	2012-11-19	2010-01-19	2010-01-19	ENSG00000160766	ENSG00000160766			4178	pseudogene	pseudogene			"""glucosidase, beta; acid, pseudogene"""	GBAP			Standard	NR_002188		Approved		uc001fjd.3		OTTHUMG00000176393		1.37:g.155188471delC								NR_002188.2						0	96	-									RNA	DEL	ENST00000486869.1	37																																																																																						0.542	GBAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000087219.2	NR_002188.2		7	0						7	0	---	---	---	---
ANKRD20A8P	729171	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTCACCTAATGTATAAGATGGA	0.327																																						ENST00000432432.2																			0																																																			0							g.chr2:95513688_95513689insTA			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95513691_95513692dupTA								NR_040113.1						0	850	-								A6NC18	RNA	INS	ENST00000432432.2	37																																																																																						0.327	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	73						9	73	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			8	7						8	7	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184046479	184046480	+	Frame_Shift_Ins	INS	-	-	TACCTAGCGGA	rs185303351		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:184046479_184046480insTACCTAGCGGA	ENST00000346169.2	+	27	4285_4286	c.4014_4015insTACCTAGCGGA	c.(4015-4017)tacfs	p.-1339fs	EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.-1346fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.-1300fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.-1339fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.-1346fs|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.-1253fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.-1176fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.-1252fs|EIF4G1_ENST00000342981.4_Frame_Shift_Ins_p.-1340fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.-1144fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.-1175fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.-1143fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.-1346fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.-1299fs	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L1338L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTGTGGCTCTACCTAGCGGA	0.525																																						ENST00000342981.4																			1	Substitution - coding silent(1)	p.L1338L(1)	lung(1)	central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4015-4020)ctacctfs		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001589	frameshift_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046479_184046480insTACCTAGCGGA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4015_4025dupTACCTAGCGGA	3.37:g.184046480_184046490dupTACCTAGCGGA	ENSP00000316879:p.Tyr1339fs					EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.P1252fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.P1144fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.P1143fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.P1300fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.P1299fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.P1175fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.P1176fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.P1253fs	p.P1340fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4431_4432	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1339			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Frame_Shift_Ins	INS	ENST00000346169.2	37	c.4017_4018insTACCTAGCGGA	CCDS3259.1																																																																																				0.525	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		12	284						12	284	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457553	110457553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr8:110457553delA	ENST00000378402.5	+	38	5559	c.5455delA	c.(5455-5457)aaafs	p.K1819fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1819	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGGGAAGTAAAGGCTTGGC	0.478										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5455-5457)aafs		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							101.0	100.0	101.0					8																	110457553		1970	4163	6133	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457553delA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5455delA	8.37:g.110457553delA	ENSP00000367655:p.Lys1819fs	HNSCC(38;0.096)					p.K1819fs	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5559	+			1819			IPT/TIG 10.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.5455delA	CCDS47911.1																																																																																				0.478	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	50						20	50	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008357	50008357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:50008357delC	ENST00000285273.4	-	4	1383	c.272delG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000442502.2_Frame_Shift_Del_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Del_p.G16fs|CA10_ENST00000451037.2_Frame_Shift_Del_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Del_p.G97fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TACCTTCCTGCCCCCCGTGTT	0.493																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gcfs		carbonic anhydrase X							264.0	257.0	259.0					17																	50008357		2203	4300	6503	SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008357delC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.272delG	17.37:g.50008357delC	ENSP00000285273:p.Gly91fs					CA10_ENST00000285273.4_Frame_Shift_Del_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Del_p.G97fs|CA10_ENST00000442502.2_Frame_Shift_Del_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Del_p.G16fs	p.G91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212	-			91					B2R7J0|B4DGL6	Frame_Shift_Del	DEL	ENST00000285273.4	37	c.272delG	CCDS32684.1																																																																																				0.493	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		8	406						8	406	---	---	---	---
TK1	7083	broad.mit.edu	37	17	76171208	76171209	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:76171208_76171209delCG	ENST00000301634.7	-	6	673_674	c.435_436delCG	c.(433-438)agcgtgfs	p.V147fs	TK1_ENST00000405273.1_Frame_Shift_Del_p.V147fs|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000590862.1_Frame_Shift_Del_p.V147fs|TK1_ENST00000588734.1_Frame_Shift_Del_p.V147fs	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	147					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	AGCTTCACCACGCTCTCGGCCA	0.614																																						ENST00000588734.1																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(433-438)agtgfs		thymidine kinase 1, soluble																																				SO:0001589	frameshift_variant	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76171208_76171209delCG		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.435_436delCG	17.37:g.76171208_76171209delCG	ENSP00000301634:p.Val147fs					TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Frame_Shift_Del_p.SV145fs|TK1_ENST00000590862.1_Frame_Shift_Del_p.SV145fs|TK1_ENST00000301634.7_Frame_Shift_Del_p.SV145fs	p.SV145fs			P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	673_674	-			145					B2RC58|Q969V0|Q9UMG9	Frame_Shift_Del	DEL	ENST00000301634.7	37	c.435_436delCG	CCDS11754.1																																																																																				0.614	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		21	80						21	80	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47424918	47424918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:47424918delT	ENST00000404338.3	+	1	2986	c.2986delT	c.(2986-2988)tttfs	p.F996fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	996					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TTACAGCCTGTTTCGAGAAGA	0.483																																						ENST00000404338.3																			0											c.(2986-2988)ttfs		Rho GTPase activating protein 35							62.0	62.0	62.0					19																	47424918		1939	4147	6086	SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424918delT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2986delT	19.37:g.47424918delT	ENSP00000385720:p.Phe996fs						p.F996fs	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2986	+			996					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2986delT	CCDS46127.1																																																																																				0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		16	41						16	41	---	---	---	---
PRKX	5613	broad.mit.edu	37	X	3631199	3631200	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:3631199_3631200delGG	ENST00000262848.5	-	1	449_450	c.95_96delCC	c.(94-96)cccfs	p.P32fs		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	32					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CCTCAGGGCTGGGGCAGAGCGC	0.757																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(94-96)cfs		protein kinase, X-linked																																				SO:0001589	frameshift_variant	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3631199_3631200delGG		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.95_96delCC	X.37:g.3631201_3631202delGG	ENSP00000262848:p.Pro32fs						p.P32fs	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN			1	449_450	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	32						Frame_Shift_Del	DEL	ENST00000262848.5	37	c.95_96delCC	CCDS14125.1																																																																																				0.757	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		2	4						2	4	---	---	---	---
