#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
MDGA2	161357	broad.mit.edu	37	14	47600938	47600938	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr14:47600938A>C	ENST00000399232.2	-	5	1061	c.697T>G	c.(697-699)Ttt>Gtt	p.F233V	MDGA2_ENST00000439988.3_Missense_Mutation_p.F302V|MDGA2_ENST00000357362.3_Missense_Mutation_p.F4V|MDGA2_ENST00000426342.1_Missense_Mutation_p.F4V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	233					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACAGTCTAAACGACACCATC	0.318																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(10-12)Ttt>Gtt		MAM domain containing glycosylphosphatidylinositol anchor 2							126.0	114.0	118.0					14																	47600938		1863	4100	5963	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47600938A>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.697T>G	14.37:g.47600938A>C	ENSP00000382178:p.Phe233Val					MDGA2_ENST00000439988.2_Missense_Mutation_p.F233V|MDGA2_ENST00000399232.2_Missense_Mutation_p.F302V|MDGA2_ENST00000357362.3_Missense_Mutation_p.F4V	p.F4V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			5	756	-			233					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.10T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.315289|4.315289	0.81358|0.81358	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.59224|.	0.99;0.28;0.99;0.28|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Immunoglobulin subtype (1);|.	0.000000|.	0.53938|.	U|.	0.000054|.	T|T	0.68495|0.68495	0.3007|0.3007	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.75020|.	0.985|.	T|T	0.67086|0.67086	-0.5759|-0.5759	10|5	0.87932|.	D|.	0|.	.|.	14.4248|14.4248	0.67207|0.67207	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233|.	Q7Z553|.	MDGA2_HUMAN|.	V|G	233;4;302;4|35	ENSP00000400011:F233V;ENSP00000405456:F4V;ENSP00000382178:F302V;ENSP00000349925:F4V|.	ENSP00000349925:F4V|.	F|V	-|-	1|2	0|0	MDGA2|MDGA2	46670688|46670688	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.922000|0.922000	0.55478|0.55478	8.728000|8.728000	0.91484|0.91484	2.145000|2.145000	0.66743|0.66743	0.477000|0.477000	0.44152|0.44152	TTT|GTT		0.318	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		32	99	0	0	0	1	0	32	99				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			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.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	86	0	0	0	1	0	5	86				
MKI67	4288	broad.mit.edu	37	10	129907280	129907280	+	Missense_Mutation	SNP	C	C	A	rs201626061		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:129907280C>A	ENST00000368654.3	-	13	3199	c.2824G>T	c.(2824-2826)Gat>Tat	p.D942Y	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.D582Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	942					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATCTTTTCATCGTTTTCTTTT	0.388																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(2824-2826)Gat>Tat		marker of proliferation Ki-67							130.0	126.0	127.0					10																	129907280		2203	4299	6502	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907280C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2824G>T	10.37:g.129907280C>A	ENSP00000357643:p.Asp942Tyr					MKI67_ENST00000368653.3_Missense_Mutation_p.D582Y	p.D942Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3199	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	942					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2824G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	6.994	0.553569	0.13374	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01397	4.99;4.94	3.31	0.919	0.19392	.	1.210510	0.06246	N	0.691167	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	P;P;P	0.41673	0.475;0.475;0.759	B;B;B	0.32805	0.153;0.153;0.115	T	0.51498	-0.8698	10	0.56958	D	0.05	.	7.6249	0.28206	0.5251:0.4749:0.0:0.0	.	941;582;942	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Y	942;582;941	ENSP00000357643:D942Y;ENSP00000357642:D582Y	ENSP00000357642:D582Y	D	-	1	0	MKI67	129797270	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.265000	0.08644	0.182000	0.20032	-0.397000	0.06425	GAT		0.388	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		36	95	1	0	4.39465e-27	1	4.89215e-27	36	95				
PTGS1	5742	broad.mit.edu	37	9	125154632	125154632	+	Missense_Mutation	SNP	C	C	T	rs201184369		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr9:125154632C>T	ENST00000362012.2	+	11	1614	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S	PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S|PTGS1_ENST00000540753.1_Missense_Mutation_p.P475S|PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	537					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCTAGGGAATCCCATCTGTTC	0.522																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1609-1611)Ccc>Tcc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						110.0	112.0	111.0					9																	125154632		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154632C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1609C>T	9.37:g.125154632C>T	ENSP00000354612:p.Pro537Ser					PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S|PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S|PTGS1_ENST00000540753.1_Missense_Mutation_p.P475S	p.P537S	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1614	+			537					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1609C>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347855	0.82022	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.41	3.54	0.40534	.	0.096296	0.64402	D	0.000001	D	0.83801	0.5333	M	0.91818	3.245	0.80722	D	1	P;D;D	0.67145	0.883;0.996;0.966	P;D;P	0.64595	0.861;0.927;0.844	D	0.87307	0.2309	10	0.87932	D	0	-20.6001	15.0443	0.71816	0.0:0.7302:0.2698:0.0	.	475;537;500	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	S	475;537;500;428	ENSP00000437709:P475S;ENSP00000354612:P537S;ENSP00000223423:P500S;ENSP00000362802:P428S	ENSP00000223423:P500S	P	+	1	0	PTGS1	124194453	0.998000	0.40836	0.944000	0.38274	0.953000	0.61014	3.354000	0.52254	0.628000	0.30357	0.655000	0.94253	CCC		0.522	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			6	94	0	0	0	1	0	6	94				
ESR1	2099	broad.mit.edu	37	6	152420001	152420001	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:152420001C>T	ENST00000206249.3	+	8	2050	c.1688C>T	c.(1687-1689)aCg>aTg	p.T563M	ESR1_ENST00000406599.1_Missense_Mutation_p.T302M|ESR1_ENST00000443427.1_Missense_Mutation_p.T563M|ESR1_ENST00000338799.5_Missense_Mutation_p.T563M|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.T451M|ESR1_ENST00000440973.1_Missense_Mutation_p.T563M	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	563	Interaction with AKAP13.|Self-association.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T563M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GTGGAGGAGACGGACCAAAGC	0.602																																						ENST00000440973.1																			1	Substitution - Missense(1)	p.T563M(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1687-1689)aCg>aTg		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						87.0	77.0	81.0					6																	152420001		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152420001C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1688C>T	6.37:g.152420001C>T	ENSP00000206249:p.Thr563Met					ESR1_ENST00000206249.3_Missense_Mutation_p.T563M|ESR1_ENST00000338799.5_Missense_Mutation_p.T563M|ESR1_ENST00000443427.1_Missense_Mutation_p.T563M|ESR1_ENST00000406599.1_Missense_Mutation_p.T302M|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.T451M	p.T563M	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2058	+		Ovarian(120;0.0448)	563			Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1688C>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	4.757	0.140745	0.09083	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;T	0.92149	-2.98;-2.98;-2.5;-2.98;-2.98;-0.4	5.45	-3.08	0.05347	Estrogen-type nuclear receptor, C-terminal (1);	1.846280	0.03073	N	0.157487	T	0.68833	0.3044	N	0.08118	0	0.09310	N	1	P;B;B;B;B;B;B	0.43412	0.806;0.162;0.059;0.023;0.004;0.012;0.014	B;B;B;B;B;B;B	0.39706	0.307;0.021;0.01;0.006;0.008;0.005;0.008	T	0.70575	-0.4834	10	0.45353	T	0.12	.	6.1453	0.20283	0.2434:0.2277:0.0:0.5289	.	238;128;302;490;562;563;563	E7EVR3;B5LY05;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	M	563;563;451;238;563;563;302;150;491	ENSP00000405330:T563M;ENSP00000342630:T563M;ENSP00000415934:T451M;ENSP00000387500:T563M;ENSP00000206249:T563M;ENSP00000384064:T302M	ENSP00000206249:T563M	T	+	2	0	ESR1	152461694	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.083000	0.14871	-0.453000	0.07076	-0.781000	0.03364	ACG		0.602	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			5	37	0	0	0	1	0	5	37				
SPR	6697	broad.mit.edu	37	2	73115592	73115592	+	Missense_Mutation	SNP	G	G	A	rs373408326		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:73115592G>A	ENST00000234454.5	+	2	527	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	152					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						CAACAGAACCGTGGTTAACAT	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234454.5																			0				lung(4)|ovary(2)	6						c.(454-456)Gtg>Atg		sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)		G	MET/VAL	0,4406		0,0,2203	162.0	141.0	148.0		454	5.6	1.0	2		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPR	NM_003124.4	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	152/262	73115592	1,13005	2203	4300	6503	SO:0001583	missense	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73115592G>A		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.454G>A	2.37:g.73115592G>A	ENSP00000234454:p.Val152Met		OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	SPR_ENST00000498749.1_3'UTR	p.V152M	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN			2	527	+			152					A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	c.454G>A	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593992	0.66219	0.0	1.16E-4	ENSG00000116096	ENST00000234454	D	0.92495	-3.05	5.62	5.62	0.85841	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.84082	2.675	0.80722	D	1	D	0.65815	0.995	P	0.56088	0.791	D	0.95466	0.8547	10	0.59425	D	0.04	-22.0659	18.2235	0.89909	0.0:0.0:1.0:0.0	.	152	P35270	SPRE_HUMAN	M	152	ENSP00000234454:V152M	ENSP00000234454:V152M	V	+	1	0	SPR	72969100	1.000000	0.71417	0.951000	0.38953	0.312000	0.27988	6.349000	0.73013	2.648000	0.89879	0.561000	0.74099	GTG		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			4	75	0	0	0	1	0	4	75				
ELAC2	60528	broad.mit.edu	37	17	12898299	12898299	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr17:12898299C>T	ENST00000338034.4	-	20	2128	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q	ELAC2_ENST00000395962.2_Missense_Mutation_p.R611Q|ELAC2_ENST00000426905.3_Missense_Mutation_p.R590Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	630					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ATCACATGTTCGCAACAGCGA	0.527																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1888-1890)cGa>cAa		elaC ribonuclease Z 2							179.0	186.0	183.0					17																	12898299		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12898299C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1889G>A	17.37:g.12898299C>T	ENSP00000337445:p.Arg630Gln					ELAC2_ENST00000395962.2_Missense_Mutation_p.R611Q|ELAC2_ENST00000426905.3_Missense_Mutation_p.R590Q	p.R630Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			20	2128	-			630					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1889G>A	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167106	0.21621	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.54479	0.57;0.57;0.57	5.31	-1.25	0.09405	Beta-lactamase-like (1);	0.837249	0.11177	N	0.591374	T	0.22205	0.0535	N	0.03029	-0.43	0.09310	N	1	B;B;B;B;B;B;B;B	0.20368	0.044;0.001;0.036;0.001;0.044;0.044;0.023;0.003	B;B;B;B;B;B;B;B	0.24394	0.032;0.001;0.019;0.001;0.032;0.053;0.013;0.012	T	0.22800	-1.0206	10	0.19147	T	0.46	1.6319	4.6861	0.12758	0.1584:0.4305:0.0:0.4111	.	590;613;611;428;630;390;615;258	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	Q	590;630;611	ENSP00000405223:R590Q;ENSP00000337445:R630Q;ENSP00000379291:R611Q	ENSP00000337445:R630Q	R	-	2	0	ELAC2	12839024	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.268000	0.02836	-0.416000	0.07473	-1.284000	0.01376	CGA		0.527	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			4	196	0	0	0	1	0	4	196				
MUC16	94025	broad.mit.edu	37	19	9085673	9085673	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:9085673T>C	ENST00000397910.4	-	1	6345	c.6142A>G	c.(6142-6144)Atc>Gtc	p.I2048V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2048	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGAAGTGATTGCATTCCTC	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6142-6144)Atc>Gtc		mucin 16, cell surface associated							160.0	154.0	156.0					19																	9085673		2001	4170	6171	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085673T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6142A>G	19.37:g.9085673T>C	ENSP00000381008:p.Ile2048Val						p.I2048V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6345	-			2048			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6142A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.559	-0.846024	0.02671	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	0.137	0.137	0.14787	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.19706	0.038	B	0.26310	0.068	T	0.36529	-0.9744	7	0.87932	D	0	.	.	.	.	.	2048	B5ME49	.	V	2048	ENSP00000381008:I2048V	ENSP00000381008:I2048V	I	-	1	0	MUC16	8946673	0.016000	0.18221	0.019000	0.16419	0.063000	0.16089	-0.123000	0.10611	0.249000	0.21456	0.246000	0.17985	ATC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	115	0	0	0	1	0	4	115				
DYRK1B	9149	broad.mit.edu	37	19	40316880	40316880	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:40316880G>C	ENST00000593685.1	-	10	1926	c.1458C>G	c.(1456-1458)agC>agG	p.S486R	DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S458R|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	486	Interaction with RANBP9.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AATATCGGTTGCTGTAGCGGT	0.612																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1456-1458)agC>agG		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							44.0	47.0	46.0					19																	40316880		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316880G>C	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1458C>G	19.37:g.40316880G>C	ENSP00000469863:p.Ser486Arg					DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S458R|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R	p.S486R			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		10	1926	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		486			Interaction with RANBP9.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1458C>G	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004055	0.54254	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.59083	0.29;0.33;0.33	4.32	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	N	0.24115	0.695	0.47511	D	0.99944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.57596	-0.7784	10	0.42905	T	0.14	.	9.9807	0.41811	0.1019:0.0:0.8981:0.0	.	446;486;458	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	R	486;458;446	ENSP00000312789:S486R;ENSP00000221803:S458R;ENSP00000403182:S446R	ENSP00000312789:S486R	S	-	3	2	DYRK1B	45008720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.993000	0.40747	0.786000	0.33708	0.563000	0.77884	AGC		0.612	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		25	42	0	0	0	1	0	25	42				
TAAR8	83551	broad.mit.edu	37	6	132874168	132874168	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:132874168G>T	ENST00000275200.1	+	1	337	c.337G>T	c.(337-339)Gca>Tca	p.A113S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	113					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGTGATGTGGCATTTTGTTA	0.478																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(337-339)Gca>Tca		trace amine associated receptor 8							273.0	235.0	248.0					6																	132874168		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874168G>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.337G>T	6.37:g.132874168G>T	ENSP00000275200:p.Ala113Ser						p.A113S	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	337	+	Breast(56;0.112)		113					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.337G>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	g	3.602	-0.081315	0.07141	.	.	ENSG00000146385	ENST00000275200	T	0.72394	-0.65	4.72	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.195811	0.32147	N	0.006516	T	0.23094	0.0558	N	0.05534	-0.03	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.20974	-1.0259	10	0.22109	T	0.4	-5.8045	5.9723	0.19359	0.1065:0.0:0.563:0.3306	.	113	Q969N4	TAAR8_HUMAN	S	113	ENSP00000275200:A113S	ENSP00000275200:A113S	A	+	1	0	TAAR8	132915861	0.000000	0.05858	0.029000	0.17559	0.774000	0.43823	-1.100000	0.03339	0.692000	0.31613	-0.121000	0.15023	GCA		0.478	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		6	193	1	0	3.59834e-05	1	3.72459e-05	6	193				
UBQLNL	143630	broad.mit.edu	37	11	5537357	5537357	+	Silent	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:5537357G>A	ENST00000380184.1	-	1	578	c.315C>T	c.(313-315)ggC>ggT	p.G105G	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	105	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GAGATCTGGAGCCCTGCTTGG	0.542																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(313-315)ggC>ggT		ubiquilin-like							194.0	174.0	181.0					11																	5537357		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5537357G>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.315C>T	11.37:g.5537357G>A						HBG2_ENST00000380259.2_Intron	p.G105G	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	578	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	105			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.315C>T	CCDS31385.1																																																																																				0.542	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		6	82	0	0	0	1	0	6	82				
NEB	4703	broad.mit.edu	37	2	152381049	152381049	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:152381049C>T	ENST00000172853.10	-	124	17398	c.17251G>A	c.(17251-17253)Gca>Aca	p.A5751T	NEB_ENST00000409198.1_Missense_Mutation_p.A5751T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T|NEB_ENST00000427231.2_Missense_Mutation_p.A7452T|NEB_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000397345.3_Missense_Mutation_p.A7452T			P20929	NEBU_HUMAN	nebulin	5751					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTGGCTGCCTGTGTGGCC	0.507																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(22354-22356)Gca>Aca		nebulin							203.0	204.0	204.0					2																	152381049		2020	4205	6225	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152381049C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17251G>A	2.37:g.152381049C>T	ENSP00000172853:p.Ala5751Thr					NEB_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000172853.10_Missense_Mutation_p.A5751T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T|NEB_ENST00000397345.3_Missense_Mutation_p.A7452T|NEB_ENST00000409198.1_Missense_Mutation_p.A5751T	p.A7452T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	152	22556	-			5751					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.22354G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.215493	0.79352	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.55234	0.53;0.75;0.75;0.53;0.53	5.86	4.98	0.66077	.	0.146213	0.64402	D	0.000009	T	0.50939	0.1645	N	0.11000	0.08	0.80722	D	1	B;B;D	0.64830	0.025;0.168;0.994	B;B;P	0.62885	0.12;0.192;0.908	T	0.54702	-0.8254	10	0.45353	T	0.12	.	14.4013	0.67047	0.0:0.9295:0.0:0.0705	.	5751;7452;2182	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	T	5751;7452;7452;1800;2182;5751	ENSP00000386259:A5751T;ENSP00000380505:A7452T;ENSP00000416578:A7452T;ENSP00000410961:A2182T;ENSP00000172853:A5751T	ENSP00000172853:A5751T	A	-	1	0	NEB	152089295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.058000	0.71126	2.766000	0.95052	0.655000	0.94253	GCA		0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	129	0	0	0	1	0	4	129				
CHD4	1108	broad.mit.edu	37	12	6711235	6711235	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:6711235T>C	ENST00000357008.2	-	4	492	c.329A>G	c.(328-330)tAt>tGt	p.Y110C	CHD4_ENST00000544040.1_Missense_Mutation_p.Y103C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y107C|CHD4_ENST00000309577.6_Missense_Mutation_p.Y110C	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	110					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCCAGGAGTATAGTCGCTGCC	0.552																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(328-330)tAt>tGt		chromodomain helicase DNA binding protein 4							32.0	35.0	34.0					12																	6711235		2203	4298	6501	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711235T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.329A>G	12.37:g.6711235T>C	ENSP00000349508:p.Tyr110Cys					CHD4_ENST00000357008.2_Missense_Mutation_p.Y110C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y107C|CHD4_ENST00000544040.1_Missense_Mutation_p.Y103C	p.Y110C			Q14839	CHD4_HUMAN			4	492	-			110					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.329A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167273	0.57476	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942;ENST00000545584	D;D;D;D;T	0.91407	-2.79;-2.82;-2.81;-2.84;0.47	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.95001	0.8382	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.99;0.995	D	0.95502	0.8578	10	0.87932	D	0	.	15.851	0.78930	0.0:0.0:0.0:1.0	.	110;110;103	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	107;103;110;110;84;110;103	ENSP00000440392:Y107C;ENSP00000440542:Y103C;ENSP00000312419:Y110C;ENSP00000349508:Y110C;ENSP00000437506:Y110C	ENSP00000312419:Y110C	Y	-	2	0	CHD4	6581496	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.698000	0.84413	2.152000	0.67230	0.477000	0.44152	TAT		0.552	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	39	0	0	0	1	0	9	39				
TACC2	10579	broad.mit.edu	37	10	123970988	123970988	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:123970988T>G	ENST00000369005.1	+	9	7388	c.7048T>G	c.(7048-7050)Ttt>Gtt	p.F2350V	TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2350	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTTTAACCCTTTTTCTTCCAC	0.468																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7048-7050)Ttt>Gtt		transforming, acidic coiled-coil containing protein 2							180.0	195.0	190.0					10																	123970988		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970988T>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7048T>G	10.37:g.123970988T>G	ENSP00000358001:p.Phe2350Val					TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V|TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V	p.F2350V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7388	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2350			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7048T>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025718	0.75390	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	1.87;1.4;2.02;1.93;1.87;1.4;2.02;0.08;-0.14;1.23;1.29;1.25;1.24;1.23;0.28	4.74	4.74	0.60224	.	0.000000	0.37623	N	0.002011	T	0.78509	0.4294	M	0.82323	2.585	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.999;0.999;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.985;0.997;0.996;0.998;0.998;0.998;0.998;0.998	T	0.77245	-0.2659	10	0.19590	T	0.45	-9.8863	14.5623	0.68148	0.0:0.0:0.0:1.0	.	445;2354;428;2305;2354;428;428;54;496;2350	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2350;496;2354;2305;2350;496;2354;2340;54;54;428;428;428;428;445;89	ENSP00000358001:F2350V;ENSP00000425062:F496V;ENSP00000424467:F2354V;ENSP00000427618:F2305V;ENSP00000334280:F2350V;ENSP00000350701:F496V;ENSP00000395048:F2354V;ENSP00000357997:F54V;ENSP00000357996:F54V;ENSP00000353763:F428V;ENSP00000357995:F428V;ENSP00000422815:F428V;ENSP00000260733:F428V;ENSP00000420967:F445V;ENSP00000422725:F89V	ENSP00000260733:F428V	F	+	1	0	TACC2	123960978	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	7.880000	0.87243	1.911000	0.55334	0.454000	0.30748	TTT		0.468	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			22	152	0	0	0	1	0	22	152				
GPR114	221188	broad.mit.edu	37	16	57608859	57608859	+	Silent	SNP	A	A	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr16:57608859A>T	ENST00000340339.4	+	11	1864	c.1341A>T	c.(1339-1341)gcA>gcT	p.A447A	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.A447A	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGGCGGATGCACCAAGTGTCA	0.652																																						ENST00000340339.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(1339-1341)gcA>gcT		G protein-coupled receptor 114							76.0	59.0	65.0					16																	57608859		2198	4300	6498	SO:0001819	synonymous_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57608859A>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1341A>T	16.37:g.57608859A>T						GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.A447A	p.A447A	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			11	1864	+			447					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	c.1341A>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	A	1.331	-0.596740	0.03771	.	.	ENSG00000159618	ENST00000394361	.	.	.	5.56	-2.27	0.06846	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.09310	N	0.999999	B	0.18610	0.029	B	0.14023	0.01	T	0.31251	-0.9950	7	0.11485	T	0.65	.	10.2449	0.43334	0.4142:0.0:0.5858:0.0	.	408	B4E148	.	L	408	.	ENSP00000377888:H408L	H	+	2	0	GPR114	56166360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.005000	0.13129	-0.629000	0.05575	-0.608000	0.04076	CAC		0.652	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		4	29	0	0	0	1	0	4	29				
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	T	rs121909241		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:89692911G>T	ENST00000371953.3	+	5	1752	c.395G>T	c.(394-396)gGt>gTt	p.G132V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		59	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)	prostate(16)|central_nervous_system(14)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM045431|CM063078|CM074468	PTEN	M	rs121909241	c.(394-396)gGt>gTt		phosphatase and tensin homolog							137.0	127.0	130.0					10																	89692911		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692911G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.395G>T	10.37:g.89692911G>T	ENSP00000361021:p.Gly132Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G132V	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1752	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.395G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827556	0.90955	.	.	ENSG00000171862	ENST00000371953	D	0.99532	-6.1	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.93594	3.435	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97294	0.9926	8	.	.	.	-10.5526	18.7776	0.91918	0.0:0.0:1.0:0.0	.	132	P60484	PTEN_HUMAN	V	132	ENSP00000361021:G132V	.	G	+	2	0	PTEN	89682891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		14	51	1	0	4.3838e-07	1	4.70262e-07	14	51				
AOX1	316	broad.mit.edu	37	2	201515849	201515849	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:201515849T>G	ENST00000374700.2	+	26	3241	c.3000T>G	c.(2998-3000)aaT>aaG	p.N1000K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1000					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGCAGAGAATTATTGGAAGA	0.478																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2998-3000)aaT>aaG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						163.0	163.0	163.0					2																	201515849		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515849T>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3000T>G	2.37:g.201515849T>G	ENSP00000363832:p.Asn1000Lys					AOX1_ENST00000485106.1_3'UTR	p.N1000K	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			26	3241	+			1000					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3000T>G	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943686	0.53079	.	.	ENSG00000138356	ENST00000374700	T	0.46451	0.87	5.65	3.12	0.35913	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.227966	0.50627	D	0.000103	T	0.70456	0.3226	H	0.95539	3.685	0.53688	D	0.99997	D	0.76494	0.999	D	0.77004	0.989	T	0.73193	-0.4060	10	0.87932	D	0	-27.4012	8.6288	0.33906	0.0:0.1776:0.0:0.8224	.	1000	Q06278	ADO_HUMAN	K	1000	ENSP00000363832:N1000K	ENSP00000363832:N1000K	N	+	3	2	AOX1	201224094	1.000000	0.71417	0.798000	0.32154	0.396000	0.30629	1.967000	0.40491	0.476000	0.27440	0.533000	0.62120	AAT		0.478	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		10	110	0	0	0	1	0	10	110				
SPHKAP	80309	broad.mit.edu	37	2	228860280	228860280	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:228860280C>T	ENST00000392056.3	-	8	4625	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1527						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTCTTCCTCATTGGCA	0.572																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4579-4581)Gaa>Aaa		SPHK1 interactor, AKAP domain containing							205.0	174.0	184.0					2																	228860280		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228860280C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4579G>A	2.37:g.228860280C>T	ENSP00000375909:p.Glu1527Lys					SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K	p.E1527K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	8	4625	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1527					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4579G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856546	0.91355	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.16073	2.37;2.39	6.06	6.06	0.98353	.	0.101697	0.64402	D	0.000003	T	0.40297	0.1111	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.56746	0.974;0.977	P;P	0.56563	0.638;0.801	T	0.09015	-1.0694	10	0.72032	D	0.01	-18.2095	19.609	0.95594	0.0:1.0:0.0:0.0	.	1527;1527	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	1527	ENSP00000375909:E1527K;ENSP00000339886:E1527K	ENSP00000339886:E1527K	E	-	1	0	SPHKAP	228568524	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	6.535000	0.73838	2.882000	0.98803	0.655000	0.94253	GAA		0.572	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	133	0	0	0	1	0	4	133				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			0							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	49	0	0	0	1	0	3	49				
RAD54B	25788	broad.mit.edu	37	8	95416419	95416419	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:95416419T>C	ENST00000336148.5	-	6	954	c.830A>G	c.(829-831)aAt>aGt	p.N277S		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	277					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACAGTTCTTATTGAATACCCA	0.353								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(829-831)aAt>aGt	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							131.0	119.0	123.0					8																	95416419		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95416419T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.830A>G	8.37:g.95416419T>C	ENSP00000336606:p.Asn277Ser						p.N277S	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		6	954	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.830A>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968233	0.74131	.	.	ENSG00000197275	ENST00000336148	D	0.93133	-3.17	5.24	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	M	0.69823	2.125	0.80722	D	1	D	0.59357	0.985	P	0.53549	0.729	D	0.91599	0.5293	10	0.30854	T	0.27	-14.0991	11.1114	0.48235	0.0:0.0731:0.0:0.9269	.	277	Q9Y620	RA54B_HUMAN	S	277	ENSP00000336606:N277S	ENSP00000336606:N277S	N	-	2	0	RAD54B	95485595	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	3.503000	0.53340	0.822000	0.34565	0.533000	0.62120	AAT		0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		28	58	0	0	0	1	0	28	58				
GMPPB	29925	broad.mit.edu	37	3	49760869	49760869	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr3:49760869T>G	ENST00000480687.1	-	3	282	c.166A>C	c.(166-168)Atg>Ctg	p.M56L	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	56					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCTGCGACATGTAGCTCACG	0.627																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(166-168)Atg>Ctg		GDP-mannose pyrophosphorylase B							104.0	99.0	100.0					3																	49760869		2203	4300	6503	SO:0001583	missense	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49760869T>G	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.166A>C	3.37:g.49760869T>G	ENSP00000418565:p.Met56Leu					GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L|AMIGO3_ENST00000535833.1_5'UTR	p.M56L			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	282	-			56					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.166A>C	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377615	0.61735	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	T;T;T	0.72394	-0.65;-0.65;-0.65	4.66	4.66	0.58398	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	N	0.12853	0.265	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.003;0.006	T	0.45833	-0.9234	10	0.17369	T	0.5	-40.1237	13.0675	0.59043	0.0:0.0:0.0:1.0	.	56;56	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	L	56	ENSP00000418565:M56L;ENSP00000309092:M56L;ENSP00000311130:M56L	ENSP00000309092:M56L	M	-	1	0	GMPPB	49735873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.501000	0.60393	1.959000	0.56917	0.454000	0.30748	ATG		0.627	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		10	64	0	0	0	1	0	10	64				
MARCH6	10299	broad.mit.edu	37	5	10426565	10426565	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr5:10426565G>A	ENST00000274140.5	+	24	2569	c.2437G>A	c.(2437-2439)Gtg>Atg	p.V813M	MARCH6_ENST00000449913.2_Missense_Mutation_p.V765M|MARCH6_ENST00000510792.1_Missense_Mutation_p.V511M|MARCH6_ENST00000503788.1_Missense_Mutation_p.V708M	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	813					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGCAGCTCCCGTGATCTCTGT	0.428																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2437-2439)Gtg>Atg		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							435.0	370.0	392.0					5																	10426565		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426565G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2437G>A	5.37:g.10426565G>A	ENSP00000274140:p.Val813Met					MARCH6_ENST00000503788.1_Missense_Mutation_p.V708M|MARCH6_ENST00000510792.1_Missense_Mutation_p.V511M|MARCH6_ENST00000449913.2_Missense_Mutation_p.V765M	p.V813M	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			24	2569	+			813					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2437G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069362	0.93950	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.50277	1.76;0.75;1.76;0.75	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.987;0.999;0.972	T	0.76173	-0.3056	10	0.87932	D	0	-22.7286	20.0572	0.97657	0.0:0.0:1.0:0.0	.	708;765;393;813	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	M	765;708;813;511	ENSP00000414643:V765M;ENSP00000425930:V708M;ENSP00000274140:V813M;ENSP00000424512:V511M	ENSP00000274140:V813M	V	+	1	0	MARCH6	10479565	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	9.418000	0.97395	2.826000	0.97356	0.655000	0.94253	GTG		0.428	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		4	183	0	0	0	1	0	4	183				
COL12A1	1303	broad.mit.edu	37	6	75827179	75827179	+	Missense_Mutation	SNP	C	C	T	rs183898615	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:75827179C>T	ENST00000322507.8	-	47	7747	c.7438G>A	c.(7438-7440)Gtg>Atg	p.V2480M	COL12A1_ENST00000416123.2_Missense_Mutation_p.V2480M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V2480M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V1316M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2480	Nonhelical region (NC3).|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAATGAACACGTGCCGTTCA	0.418													C|||	2	0.000399361	0.0	0.0	5008	,	,		18900	0.002		0.0	False		,,,				2504	0.0					ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7438-7440)Gtg>Atg		collagen, type XII, alpha 1							126.0	123.0	124.0					6																	75827179		1981	4186	6167	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75827179C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7438G>A	6.37:g.75827179C>T	ENSP00000325146:p.Val2480Met					COL12A1_ENST00000345356.6_Missense_Mutation_p.V1316M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V2480M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V2480M	p.V2480M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			47	7747	-			2480			Nonhelical region (NC3).|VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7438G>A	CCDS43482.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.0	4.359394	0.82353	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.91	5.91	0.95273	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.83223	2.63	0.49582	D	0.999809	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.88876	0.3336	10	0.51188	T	0.08	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1316;2480	Q99715-2;Q99715	.;COCA1_HUMAN	M	2480;118;2480;1316;2480;2480;34	ENSP00000325146:V2480M;ENSP00000399812:V118M;ENSP00000305147:V1316M;ENSP00000412864:V2480M;ENSP00000421216:V2480M;ENSP00000423423:V34M	ENSP00000325146:V2480M	V	-	1	0	COL12A1	75883899	1.000000	0.71417	0.979000	0.43373	0.935000	0.57460	5.999000	0.70665	2.802000	0.96397	0.655000	0.94253	GTG		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	71	0	0	0	1	0	5	71				
LRP1B	53353	broad.mit.edu	37	2	141232707	141232707	+	Splice_Site	SNP	C	C	T	rs77794732		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:141232707C>T	ENST00000389484.3	-	60	10596	c.9625G>A	c.(9625-9627)Gtc>Atc	p.V3209I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V3209F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			2	Substitution - Missense(2)	p.V3209F(2)	lung(2)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e60+1		low density lipoprotein receptor-related protein 1B							77.0	73.0	74.0					2																	141232707		2203	4299	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232707C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9625+1G>A	2.37:g.141232707C>T		TSP Lung(27;0.18)					p.V3209_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	60	10596	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3209					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.9625_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762279	0.69763	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.93099	0.7803	L	0.39633	1.23	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	D	0.91614	0.5305	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	I	3209;3147	ENSP00000374135:V3209I	.	V	-	1	0	LRP1B	140949177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.771000	0.85420	2.704000	0.92352	0.650000	0.86243	GTC		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	13	89	0	0	0	1	0	13	89				
ARID2	196528	broad.mit.edu	37	12	46244876	46244876	+	Silent	SNP	G	G	A	rs78234941	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:46244876G>A	ENST00000334344.6	+	15	3142	c.2970G>A	c.(2968-2970)tcG>tcA	p.S990S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.S841S|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Silent_p.S600S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	990	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATGTCGTCGTCCTCTACCC	0.498			"""N, S, F"""		hepatocellular carcinoma								G|||	2	0.000399361	0.0008	0.0	5008	,	,		24572	0.0		0.001	False		,,,				2504	0.0					ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2968-2970)tcG>tcA		AT rich interactive domain 2 (ARID, RFX-like)		G		0,4406		0,0,2203	250.0	217.0	229.0		2970	-11.3	0.6	12	dbSNP_131	229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARID2	NM_152641.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		990/1836	46244876	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244876G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2970G>A	12.37:g.46244876G>A						ARID2_ENST00000422737.1_Silent_p.S841S|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.S600S	p.S990S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3142	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	990			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.2970G>A	CCDS31783.1																																																																																				0.498	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	86	0	0	0	1	0	9	86				
MEFV	4210	broad.mit.edu	37	16	3304558	3304558	+	Silent	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr16:3304558G>A	ENST00000219596.1	-	2	549	c.510C>T	c.(508-510)gaC>gaT	p.D170D	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	170					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TGCCCTGCGCGTCCAGGCCCT	0.766																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(508-510)gaC>gaT		Mediterranean fever	Colchicine(DB01394)						5.0	5.0	5.0					16																	3304558		2082	4113	6195	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304558G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.510C>T	16.37:g.3304558G>A						MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	p.D170D	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			2	549	-			170					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.510C>T	CCDS10498.1																																																																																				0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		3	6	0	0	0	1	0	3	6				
RAG1	5896	broad.mit.edu	37	11	36597054	36597054	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:36597054G>C	ENST00000299440.5	+	2	2312	c.2200G>C	c.(2200-2202)Gat>Cat	p.D734H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	734					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TACTCTTTGTGATGCCACCCG	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2200-2202)Gat>Cat		recombination activating gene 1							86.0	83.0	84.0					11																	36597054		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597054G>C	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2200G>C	11.37:g.36597054G>C	ENSP00000299440:p.Asp734His						p.D734H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2312	+	all_lung(20;0.226)	all_hematologic(20;0.107)	734					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2200G>C	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995247	0.74703	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87179	-2.22;-2.22	6.13	6.13	0.99165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95709	0.8756	10	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	734	P15918	RAG1_HUMAN	H	734	ENSP00000434610:D734H;ENSP00000299440:D734H	ENSP00000299440:D734H	D	+	1	0	RAG1	36553630	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	GAT		0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		10	80	0	0	0	1	0	10	80				
FRAS1	80144	broad.mit.edu	37	4	79254489	79254489	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr4:79254489C>T	ENST00000325942.6	+	19	2641	c.2201C>T	c.(2200-2202)cCt>cTt	p.P734L	FRAS1_ENST00000264895.6_Missense_Mutation_p.P734L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	734					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACTGTGGGCCTTCCCATGTG	0.522																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2200-2202)cCt>cTt		Fraser syndrome 1							96.0	91.0	93.0					4																	79254489		1991	4170	6161	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79254489C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2201C>T	4.37:g.79254489C>T	ENSP00000326330:p.Pro734Leu					FRAS1_ENST00000325942.6_Missense_Mutation_p.P734L	p.P734L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			19	2641	+			734					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.2201C>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949855	0.34377	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.31769	2.21;1.48	5.47	4.62	0.57501	Growth factor, receptor (1);	0.363085	0.28365	N	0.015610	T	0.32645	0.0836	L	0.56199	1.76	0.25269	N	0.98953	P;B;B	0.38020	0.615;0.415;0.415	B;B;B	0.41510	0.359;0.269;0.159	T	0.14531	-1.0469	10	0.15952	T	0.53	.	14.5674	0.68188	0.1476:0.8524:0.0:0.0	.	734;734;734	E9PHH6;Q86XX4;A2RRR8	.;FRAS1_HUMAN;.	L	734	ENSP00000326330:P734L;ENSP00000264895:P734L	ENSP00000264895:P734L	P	+	2	0	FRAS1	79473513	0.004000	0.15560	0.006000	0.13384	0.978000	0.69477	2.014000	0.40951	1.276000	0.44395	0.467000	0.42956	CCT		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	13	0	0	0	1	0	10	13				
NDUFA13	51079	broad.mit.edu	37	19	19627082	19627082	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:19627082C>T	ENST00000507754.4	+	1	519	c.35C>T	c.(34-36)cCg>cTg	p.P12L	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.P12L|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L|TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L|TSSK6_ENST00000585580.3_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	12					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GACATGCCTCCGCCGGGGGGC	0.617																																						ENST00000555938.1																			0											c.(34-36)cCg>cTg									39.0	44.0	43.0					19																	19627082		2203	4300	6503	SO:0001583	missense	0							g.chr19:19627082C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.35C>T	19.37:g.19627082C>T	ENSP00000423673:p.Pro12Leu					CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L	p.P12L							1	47	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.35C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	35	5.558020	0.96514	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	D;D;D	0.89810	-2.57;-2.57;-2.57	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.95043	3.615	0.47441	D	0.999429	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97349	0.9962	10	0.87932	D	0	.	16.5154	0.84299	0.0:1.0:0.0:0.0	.	12;12;12	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	L	12;95;12;12	ENSP00000423673:P12L;ENSP00000252576:P95L;ENSP00000452549:P12L	ENSP00000252576:P95L	P	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19488082	1.000000	0.71417	0.985000	0.45067	0.952000	0.60782	6.163000	0.71880	2.504000	0.84457	0.650000	0.86243	CCG		0.617	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		16	36	0	0	0	1	0	16	36				
GPR158	57512	broad.mit.edu	37	10	25464746	25464746	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:25464746A>C	ENST00000376351.3	+	1	756	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	133					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACACACGCCACCAACTTCCT	0.652																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(397-399)Acc>Ccc		G protein-coupled receptor 158							71.0	73.0	72.0					10																	25464746		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464746A>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.397A>C	10.37:g.25464746A>C	ENSP00000365529:p.Thr133Pro					GPR158-AS1_ENST00000449643.1_RNA	p.T133P	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	756	+			133					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.397A>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692986	0.68271	.	.	ENSG00000151025	ENST00000376351	T	0.76968	-1.06	4.72	3.59	0.41128	.	0.322125	0.28031	N	0.016867	D	0.82444	0.5038	M	0.63843	1.955	0.53005	D	0.999969	P	0.49862	0.929	P	0.59948	0.866	T	0.81883	-0.0728	10	0.72032	D	0.01	.	8.3714	0.32417	0.8394:0.0:0.1606:0.0	.	133	Q5T848	GP158_HUMAN	P	133	ENSP00000365529:T133P	ENSP00000365529:T133P	T	+	1	0	GPR158	25504752	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.934000	0.56553	0.850000	0.35239	0.383000	0.25322	ACC		0.652	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	78	0	0	0	1	0	5	78				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	52	0	0	0	1	0	4	52				
ABCB11	8647	broad.mit.edu	37	2	169826554	169826554	+	Splice_Site	SNP	C	C	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:169826554C>A	ENST00000263817.6	-	15	1934		c.e15+1			NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11						bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTCCACAAACCTTACTCAGC	0.512																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.e15+1		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						176.0	171.0	173.0					2																	169826554		1966	4176	6142	SO:0001630	splice_region_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169826554C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1809+1G>T	2.37:g.169826554C>A								NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			15	1934	-								Q53TL2|Q9UNB2	Splice_Site	SNP	ENST00000263817.6	37		CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060955	0.76074	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7022	0.91625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB11	169534800	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.409000	0.81822	0.585000	0.79938	.		0.512	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	Intron	4	87	1	0	1	1	1	4	87				
FGD3	89846	broad.mit.edu	37	9	95796871	95796871	+	Missense_Mutation	SNP	C	C	T	rs199718653		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr9:95796871C>T	ENST00000375482.3	+	17	2330	c.1834C>T	c.(1834-1836)Cgg>Tgg	p.R612W	FGD3_ENST00000416701.2_Missense_Mutation_p.R611W|FGD3_ENST00000538555.1_Missense_Mutation_p.R215W|FGD3_ENST00000337352.6_Missense_Mutation_p.R612W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	612	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGCCCCCTGCGGCTGTCAGA	0.662																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1834-1836)Cgg>Tgg		FYVE, RhoGEF and PH domain containing 3		C	TRP/ARG,TRP/ARG	5,3949		0,5,1972	41.0	49.0	47.0		1834,1834	2.2	0.0	9		47	0,8284		0,0,4142	yes	missense,missense	FGD3	NM_001083536.1,NM_033086.2	101,101	0,5,6114	TT,TC,CC		0.0,0.1265,0.0409	possibly-damaging,possibly-damaging	612/726,612/726	95796871	5,12233	1977	4142	6119	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95796871C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1834C>T	9.37:g.95796871C>T	ENSP00000364631:p.Arg612Trp					FGD3_ENST00000337352.6_Missense_Mutation_p.R612W|FGD3_ENST00000416701.2_Missense_Mutation_p.R611W|FGD3_ENST00000538555.1_Missense_Mutation_p.R215W	p.R612W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			17	2330	+			612			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1834C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705259	0.15172	0.001265	0.0	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.72725	-0.56;-0.56;-0.56;-0.68	4.29	2.18	0.27775	Pleckstrin homology domain (2);	1.710450	0.03653	N	0.241383	T	0.58666	0.2138	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.001	T	0.49234	-0.8961	10	0.72032	D	0.01	.	6.347	0.21355	0.2378:0.6633:0.0:0.0989	.	611;612	F8W7P2;Q5JSP0	.;FGD3_HUMAN	W	612;611;612;215	ENSP00000364631:R612W;ENSP00000413833:R611W;ENSP00000336914:R612W;ENSP00000442560:R215W	ENSP00000336914:R612W	R	+	1	2	FGD3	94836692	0.759000	0.28416	0.003000	0.11579	0.064000	0.16182	1.440000	0.35024	0.396000	0.25283	0.561000	0.74099	CGG		0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		3	58	0	0	0	1	0	3	58				
METTL25	84190	broad.mit.edu	37	12	82796857	82796857	+	Silent	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:82796857T>C	ENST00000248306.3	+	5	1296	c.1227T>C	c.(1225-1227)agT>agC	p.S409S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	409							methyltransferase activity (GO:0008168)										GAGTTTGCAGTGTGGGTTGTT	0.393																																						ENST00000248306.3																			0											c.(1225-1227)agT>agC		methyltransferase like 25							99.0	94.0	95.0					12																	82796857		2203	4300	6503	SO:0001819	synonymous_variant	84190							g.chr12:82796857T>C	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1227T>C	12.37:g.82796857T>C						METTL25_ENST00000547357.1_3'UTR	p.S409S	NM_032230.2	NP_115606.2					5	1296	+								Q9H5Y3	Silent	SNP	ENST00000248306.3	37	c.1227T>C	CCDS9024.1																																																																																				0.393	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		7	45	0	0	0	1	0	7	45				
OR10H3	26532	broad.mit.edu	37	19	15852463	15852463	+	Silent	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:15852463C>T	ENST00000305892.1	+	1	261	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGATCTGCTCTTCACCCATC	0.512																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(259-261)ctC>ctT		olfactory receptor, family 10, subfamily H, member 3							566.0	472.0	504.0					19																	15852463		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852463C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.261C>T	19.37:g.15852463C>T							p.L87L	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	261	+			87					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.261C>T	CCDS12334.1																																																																																				0.512	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			11	294	0	0	0	1	0	11	294				
TMC4	147798	broad.mit.edu	37	19	54667527	54667527	+	Silent	SNP	C	C	T	rs149954505		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:54667527C>T	ENST00000376591.4	-	8	1355	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Silent_p.P402P|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	408					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAACACGGGCGGCAGCACAA	0.567											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(1222-1224)ccG>ccA		transmembrane channel-like 4		C	,	0,4406		0,0,2203	103.0	96.0	98.0		1224,1206	-10.3	0.0	19	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMC4	NM_001145303.1,NM_144686.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	408/713,402/707	54667527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54667527C>T	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1224G>A	19.37:g.54667527C>T			OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	TMC4_ENST00000301187.4_Silent_p.P402P	p.P408P	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			8	1355	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		408					Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.1224G>A	CCDS46174.1																																																																																				0.567	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			19	29	0	0	0	1	0	19	29				
PEX16	9409	broad.mit.edu	37	11	45937359	45937359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:45937359C>T	ENST00000378750.5	-	4	497	c.254G>A	c.(253-255)tGg>tAg	p.W85*	PEX16_ENST00000532681.1_5'UTR|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000241041.3_Nonsense_Mutation_p.W85*			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	85					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CACGCTCAGCCATGTCAGCAG	0.632																																						ENST00000241041.3																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(253-255)tGg>tAg		peroxisomal biogenesis factor 16							147.0	149.0	148.0					11																	45937359		2203	4299	6502	SO:0001587	stop_gained	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45937359C>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.254G>A	11.37:g.45937359C>T	ENSP00000368024:p.Trp85*					PEX16_ENST00000378750.5_Nonsense_Mutation_p.W85*|PEX16_ENST00000532681.1_5'UTR|PEX16_ENST00000532554.1_Intron	p.W85*	NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	4	271	-			85					Q9BWB9	Nonsense_Mutation	SNP	ENST00000378750.5	37	c.254G>A	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678964	0.88542	.	.	ENSG00000121680	ENST00000241041;ENST00000378750	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9161	18.2326	0.89938	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000241041:W85X	W	-	2	0	PEX16	45893935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.206000	0.77891	2.480000	0.83734	0.561000	0.74099	TGG		0.632	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		10	128	0	0	0	1	0	10	128				
RP1L1	94137	broad.mit.edu	37	8	10470654	10470654	+	Silent	SNP	G	G	A	rs200317816	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:10470654G>A	ENST00000382483.3	-	4	1177	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	318					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662													G|||	39	0.00778754	0.0	0.0	5008	,	,		16661	0.0		0.0	False		,,,				2504	0.0399					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(952-954)gaC>gaT		retinitis pigmentosa 1-like 1		G		0,4274		0,0,2137	84.0	93.0	90.0		954	-10.9	0.2	8		90	3,8481		0,3,4239	no	coding-synonymous	RP1L1	NM_178857.5		0,3,6376	AA,AG,GG		0.0354,0.0,0.0235		318/2401	10470654	3,12755	2137	4242	6379	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470654G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.954C>T	8.37:g.10470654G>A							p.D318D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1177	-			318					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.954C>T	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	119	0	0	0	1	0	9	119				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	66	0	0	0	1	0	3	66				
FLNA	2316	broad.mit.edu	37	X	153588855	153588855	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chrX:153588855G>A	ENST00000369850.3	-	22	3544	c.3308C>T	c.(3307-3309)aCg>aTg	p.T1103M	FLNA_ENST00000422373.1_Missense_Mutation_p.T1103M|FLNA_ENST00000360319.4_Missense_Mutation_p.T1103M|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.T1103M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1103					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)					GCCCTCCACCGTCAGGCCCAG	0.687											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3307-3309)aCg>aTg		filamin A, alpha							43.0	47.0	46.0					X																	153588855		2003	4143	6146	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:153588855G>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.3308C>T	X.37:g.153588855G>A	ENSP00000358866:p.Thr1103Met		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000360319.4_Missense_Mutation_p.T1103M|FLNA_ENST00000344736.4_Missense_Mutation_p.T1103M|FLNA_ENST00000369850.3_Missense_Mutation_p.T1103M	p.T1103M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3556	-	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)		1103					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3308C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508222	0.64410	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.33	4.44	0.53790	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.092737	0.44483	D	0.000458	D	0.93229	0.7843	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94109	0.7369	10	0.87932	D	0	.	15.0188	0.71613	0.0:0.1392:0.8608:0.0	.	1103;1103	P21333-2;P21333	.;FLNA_HUMAN	M	1103;1076;1103;1103;1103	ENSP00000353467:T1103M;ENSP00000416926:T1103M;ENSP00000358866:T1103M;ENSP00000358863:T1103M	ENSP00000358863:T1103M	T	-	2	0	FLNA	153242049	1.000000	0.71417	0.865000	0.33974	0.734000	0.41952	7.932000	0.87634	0.986000	0.38683	0.525000	0.51046	ACG		0.687	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			29	7	0	0	0	1	0	29	7				
CLCA2	9635	broad.mit.edu	37	1	86898058	86898058	+	Silent	SNP	A	A	G	rs141878978	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr1:86898058A>G	ENST00000370565.4	+	5	753	c.591A>G	c.(589-591)tcA>tcG	p.S197S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	197	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTAGGTGTTCATCTGACATCA	0.333																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(589-591)tcA>tcG		chloride channel accessory 2		A		0,4406		0,0,2203	126.0	127.0	127.0		591	2.7	1.0	1	dbSNP_134	127	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CLCA2	NM_006536.5		0,2,6501	GG,GA,AA		0.0233,0.0,0.0154		197/944	86898058	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86898058A>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.591A>G	1.37:g.86898058A>G							p.S197S	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	5	753	+		Lung NSC(277;0.238)	197					A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.591A>G	CCDS708.1																																																																																				0.333	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		7	87	0	0	0	1	0	7	87				
CSMD3	114788	broad.mit.edu	37	8	113237027	113237027	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:113237027G>T	ENST00000297405.5	-	71	11341	c.11097C>A	c.(11095-11097)aaC>aaA	p.N3699K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3699						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGTGTTCAAGTTGGGATCAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(11095-11097)aaC>aaA		CUB and Sushi multiple domains 3							390.0	328.0	349.0					8																	113237027		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237027G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11097C>A	8.37:g.113237027G>T	ENSP00000297405:p.Asn3699Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K	p.N3699K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11341	-			3699					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11097C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819742	0.50633	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	2.1;2.09;2.13;1.79;2.11	5.5	3.7	0.42460	.	0.128944	0.50627	D	0.000115	T	0.42359	0.1199	L	0.54323	1.7	0.37984	D	0.933706	D;D;P	0.76494	0.999;0.998;0.732	D;D;P	0.81914	0.995;0.99;0.458	T	0.42632	-0.9440	10	0.72032	D	0.01	.	9.3393	0.38069	0.2824:0.0:0.7176:0.0	.	3530;3699;3659	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3659;3699;2969;3530;3629	ENSP00000345799:N3659K;ENSP00000297405:N3699K;ENSP00000341558:N2969K;ENSP00000412263:N3530K;ENSP00000343124:N3629K	ENSP00000297405:N3699K	N	-	3	2	CSMD3	113306203	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.610000	0.36869	0.789000	0.33779	0.591000	0.81541	AAC		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		54	122	1	0	5.82388e-19	1	6.36313e-19	54	122				
OR4A5	81318	broad.mit.edu	37	11	51412102	51412102	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:51412102C>A	ENST00000319760.6	-	1	346	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTATAAATAGCTGGCCCATGC	0.433																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(292-294)caG>caT		olfactory receptor, family 4, subfamily A, member 5							65.0	67.0	66.0					11																	51412102		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412102C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.294G>T	11.37:g.51412102C>A	ENSP00000367664:p.Gln98His						p.Q98H	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	346	-		all_lung(304;0.236)	98					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.294G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	2.506	-0.314127	0.05422	.	.	ENSG00000221840	ENST00000319760	T	0.01240	5.12	1.93	0.953	0.19590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000391	T	0.05640	0.0148	H	0.98446	4.235	0.27345	N	0.956419	B	0.28082	0.2	B	0.33620	0.167	T	0.11348	-1.0591	10	0.87932	D	0	.	4.4439	0.11588	0.0:0.6505:0.0:0.3495	.	98	Q8NH83	OR4A5_HUMAN	H	98	ENSP00000367664:Q98H	ENSP00000367664:Q98H	Q	-	3	2	OR4A5	51268678	0.000000	0.05858	0.166000	0.22797	0.015000	0.08874	-0.383000	0.07398	0.377000	0.24735	-1.608000	0.00805	CAG		0.433	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		21	38	1	0	2.27731e-05	1	2.3993e-05	21	38				
SF3B2	10992	broad.mit.edu	37	11	65826471	65826471	+	Silent	SNP	C	C	T	rs61736588		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:65826471C>T	ENST00000322535.6	+	10	1186	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	SF3B2_ENST00000528302.1_Silent_p.Y362Y	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	379					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTGAAATTTACGAGCCCAACT	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17870	0.0		0.0	False		,,,				2504	0.0					ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1084-1086)taC>taT		splicing factor 3b, subunit 2, 145kDa		C		0,4402		0,0,2201	91.0	90.0	91.0		1137	-2.7	1.0	11	dbSNP_129	91	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SF3B2	NM_006842.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		379/896	65826471	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826471C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1137C>T	11.37:g.65826471C>T						SF3B2_ENST00000322535.6_Silent_p.Y379Y	p.Y362Y			Q13435	SF3B2_HUMAN			9	1140	+			379					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.1086C>T	CCDS31612.1																																																																																				0.507	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			3	75	0	0	0	1	0	3	75				
SOHLH1	402381	broad.mit.edu	37	9	138591340	138591340	+	De_novo_Start_InFrame	SNP	C	C	T	rs375000520		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr9:138591340C>T	ENST00000298466.5	-	0	34				KCNT1_ENST00000371757.2_5'Flank|KCNT1_ENST00000298480.5_5'Flank|SOHLH1_ENST00000425225.1_De_novo_Start_InFrame|KCNT1_ENST00000487664.1_5'Flank	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGCGACCCCACGCGCACGGCC	0.677																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12								spermatogenesis and oogenesis specific basic helix-loop-helix 1							26.0	25.0	25.0					9																	138591340		2194	4291	6485			402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138591340C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915		9.37:g.138591340C>T						SOHLH1_ENST00000425225.1_De_novo_Start_InFrame		NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	0	34	-		Myeloproliferative disorder(178;0.0511)						C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Translation_Start_Site	SNP	ENST00000298466.5	37		CCDS35174.1																																																																																				0.677	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		5	4	0	0	0	1	0	5	4				
CATSPER1	117144	broad.mit.edu	37	11	65793293	65793293	+	Silent	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:65793293G>A	ENST00000312106.5	-	1	695	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	186	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACTCACTGTAGGGATTGGGTC	0.602																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(556-558)ccC>ccT		cation channel, sperm associated 1							64.0	61.0	62.0					11																	65793293		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793293G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.558C>T	11.37:g.65793293G>A							p.P186P	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	695	-			186			His-rich.		Q96P76	Silent	SNP	ENST00000312106.5	37	c.558C>T	CCDS8127.1																																																																																				0.602	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		5	55	0	0	0	1	0	5	55				
TMEM136	219902	broad.mit.edu	37	11	120198157	120198157	+	Silent	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:120198157T>C	ENST00000375095.2	+	2	248	c.7T>C	c.(7-9)Tta>Cta	p.L3L	TMEM136_ENST00000314475.2_Silent_p.L25L|TMEM136_ENST00000529187.1_Silent_p.L25L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	3						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		CAGGATGGCATTAGCTCTGTG	0.448																																						ENST00000375095.2																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(7-9)Tta>Cta		transmembrane protein 136							169.0	155.0	160.0					11																	120198157		2203	4299	6502	SO:0001819	synonymous_variant	219902					integral to membrane		g.chr11:120198157T>C	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.7T>C	11.37:g.120198157T>C						TMEM136_ENST00000529187.1_Silent_p.L25L|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000314475.2_Silent_p.L25L	p.L3L	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	2	248	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	3					B4DGQ4|B4E230|Q8IZ79	Silent	SNP	ENST00000375095.2	37	c.7T>C	CCDS55793.1																																																																																				0.448	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		8	68	0	0	0	1	0	8	68				
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4						2	4	---	---	---	---
TRBV7-7	28591	broad.mit.edu	37	7	142120169	142120170	+	RNA	DEL	CA	CA	-	rs566281538|rs534874890|rs558731694	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr7:142120169_142120170delCA	ENST00000390377.1	-	0	49									T cell receptor beta variable 7-7																		GTAGTCATCTcacacacacaca	0.426																																						ENST00000390377.1																			0																																																			0							g.chr7:142120169_142120170delCA	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120179_142120180delCA														0	49	-									RNA	DEL	ENST00000390377.1	37																																																																																						0.426	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		9	30						9	30	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994626	11994627	+	IGR	DEL	GT	GT	-	rs576201574		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:11994626_11994627delGT	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						gtatttgtgcgtgtgtgtgtgt	0.51																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994626_11994627delGT	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994636_11994637delGT								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.510	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		8	69						8	69	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		7	304						7	304	---	---	---	---
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																						ENST00000568520.1																			0																																																			0							g.chr16:33365420delA																													16.37:g.33365420delA														0	249	-									RNA	DEL	ENST00000568520.1	37																																																																																						0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432134.1			3	5						3	5	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)ctgdel	p.L20del	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGACCTCTCctgctgctgctgc	0.709																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(43-45)del		acid phosphatase, testicular				168,3966		7,154,1906						-0.3	0.0			15	194,7852		8,178,3837	no	coding	ACPT	NM_033068.2		15,332,5743	A1A1,A1R,RR		2.4111,4.0639,2.9721				362,11818				SO:0001651	inframe_deletion	93650					integral to membrane	acid phosphatase activity	g.chr19:51293714_51293716delCTG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.43_45delCTG	19.37:g.51293723_51293725delCTG	ENSP00000270593:p.Leu20del					ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	43_45	+		all_neural(266;0.057)	20					C0H3P7|Q9BZG3|Q9BZG4	In_Frame_Del	DEL	ENST00000270593.1	37	c.43_45delCTG	CCDS12802.1																																																																																				0.709	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		2	4						2	4	---	---	---	---
