#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
DTNB	1838	broad.mit.edu	37	2	25851073	25851073	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:25851073A>C	ENST00000406818.3	-	4	578	c.329T>G	c.(328-330)cTc>cGc	p.L110R	DTNB_ENST00000496972.2_Missense_Mutation_p.L53R|DTNB_ENST00000405222.1_Missense_Mutation_p.L110R|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.L110R|DTNB_ENST00000407038.3_Missense_Mutation_p.L110R|DTNB_ENST00000288642.8_Missense_Mutation_p.L110R|DTNB_ENST00000404103.3_Missense_Mutation_p.L110R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.L110R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	110						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGAGGAGGAGGCTGATAGA	0.428																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(328-330)cTc>cGc		dystrobrevin, beta							155.0	146.0	149.0					2																	25851073		1973	4150	6123	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25851073A>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.329T>G	2.37:g.25851073A>C	ENSP00000384084:p.Leu110Arg					DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.L53R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.L110R|DTNB_ENST00000407661.3_Missense_Mutation_p.L110R|DTNB_ENST00000407038.3_Missense_Mutation_p.L110R|DTNB_ENST00000407186.1_Missense_Mutation_p.L110R|DTNB_ENST00000405222.1_Missense_Mutation_p.L110R|DTNB_ENST00000404103.3_Missense_Mutation_p.L110R	p.L110R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			4	578	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		110					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.329T>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419655	0.83559	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.12	5.12	0.69794	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.995;0.999;0.996;0.999;0.996;0.995;0.998;0.995;0.996	D;D;D;D;D;D;D;D;D	0.78314	0.979;0.991;0.988;0.988;0.991;0.972;0.985;0.979;0.984	D	0.86892	0.2049	10	0.87932	D	0	-13.815	12.3114	0.54929	1.0:0.0:0.0:0.0	.	53;110;110;110;110;110;110;110;110	F5GZG4;O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;DTNB_HUMAN	R	53;110;110;110;110;110;110;110;110;110	ENSP00000444463:L53R;ENSP00000384084:L110R;ENSP00000385482:L110R;ENSP00000385193:L110R;ENSP00000384767:L110R;ENSP00000384787:L110R;ENSP00000385784:L110R;ENSP00000288642:L110R;ENSP00000306529:L110R;ENSP00000340957:L110R	ENSP00000288642:L110R	L	-	2	0	DTNB	25704577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.309000	0.96252	1.935000	0.56089	0.533000	0.62120	CTC		0.428	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		7	26	0	0	0	1	0	7	26				
TECTA	7007	broad.mit.edu	37	11	121028755	121028755	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:121028755G>A	ENST00000392793.1	+	14	4782	c.4511G>A	c.(4510-4512)cGc>cAc	p.R1504H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1504H			O75443	TECTA_HUMAN	tectorin alpha	1504	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTTCCTGCGCTTCCCAGCC	0.657																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4510-4512)cGc>cAc		tectorin alpha							64.0	49.0	54.0					11																	121028755		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028755G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4511G>A	11.37:g.121028755G>A	ENSP00000376543:p.Arg1504His					TECTA_ENST00000264037.2_Missense_Mutation_p.R1504H	p.R1504H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4782	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1504			VWFD 4.			Missense_Mutation	SNP	ENST00000392793.1	37	c.4511G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492781	0.64074	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59906	0.23;0.23	5.67	3.81	0.43845	von Willebrand factor, type D domain (3);	0.061951	0.64402	N	0.000003	T	0.56140	0.1965	N	0.17278	0.47	0.47441	D	0.999423	D	0.89917	1.0	D	0.91635	0.999	T	0.49523	-0.8931	10	0.13108	T	0.6	.	11.7284	0.51722	0.1419:0.0:0.8581:0.0	.	1504	O75443	TECTA_HUMAN	H	1504	ENSP00000376543:R1504H;ENSP00000264037:R1504H	ENSP00000264037:R1504H	R	+	2	0	TECTA	120533965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.851000	0.62896	1.418000	0.47098	-0.253000	0.11424	CGC		0.657	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		11	20	0	0	0	1	0	11	20				
FCGBP	8857	broad.mit.edu	37	19	40430352	40430352	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:40430352C>T	ENST00000221347.6	-	3	1598	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	531	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCACAGTGACGAGGCCCACG	0.652																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1591-1593)Gtc>Atc		Fc fragment of IgG binding protein							49.0	42.0	44.0					19																	40430352		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40430352C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1591G>A	19.37:g.40430352C>T	ENSP00000221347:p.Val531Ile						p.V531I	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		3	1598	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		531			VWFD 1.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.1591G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483276	0.63962	.	.	ENSG00000090920	ENST00000221347	T	0.62232	0.04	5.53	5.53	0.82687	von Willebrand factor, type D domain (3);	0.000000	0.52532	U	0.000075	T	0.74191	0.3684	L	0.55213	1.73	0.37028	D	0.896564	D	0.89917	1.0	D	0.87578	0.998	T	0.70400	-0.4882	10	0.14656	T	0.56	.	18.2443	0.89979	0.0:1.0:0.0:0.0	.	531	Q9Y6R7	FCGBP_HUMAN	I	531	ENSP00000221347:V531I	ENSP00000221347:V531I	V	-	1	0	FCGBP	45122192	0.807000	0.29009	0.481000	0.27354	0.175000	0.22909	2.630000	0.46494	2.608000	0.88229	0.561000	0.74099	GTC		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		16	18	0	0	0	1	0	16	18				
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788.0	697.0	725.0					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	803	0	0	0	1	0	6	803				
PGM2	55276	broad.mit.edu	37	4	37836309	37836309	+	Missense_Mutation	SNP	G	G	A	rs376082425		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr4:37836309G>A	ENST00000381967.4	+	3	419	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	107					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CAGTTTTGACGCCCGAGCTCA	0.343																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(319-321)Gcc>Acc		phosphoglucomutase 2		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	89.0	99.0	95.0		319	6.1	0.9	4		95	0,8600		0,0,4300	no	missense	PGM2	NM_018290.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	107/613	37836309	1,13005	2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37836309G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.319G>A	4.37:g.37836309G>A	ENSP00000371393:p.Ala107Thr					PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	p.A107T	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			3	419	+			107					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.319G>A	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910334	0.52439	2.27E-4	0.0	ENSG00000169299	ENST00000381967	T	0.61274	0.12	6.05	6.05	0.98169	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.093804	0.64402	D	0.000001	T	0.51873	0.1700	L	0.33792	1.035	0.80722	D	1	B	0.15141	0.012	B	0.22753	0.041	T	0.36720	-0.9736	10	0.28530	T	0.3	-11.796	20.6013	0.99457	0.0:0.0:1.0:0.0	.	107	Q96G03	PGM2_HUMAN	T	107	ENSP00000371393:A107T	ENSP00000371393:A107T	A	+	1	0	PGM2	37512704	1.000000	0.71417	0.913000	0.36048	0.039000	0.13416	6.277000	0.72608	2.878000	0.98634	0.650000	0.86243	GCC		0.343	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		3	51	0	0	0	1	0	3	51				
IGSF10	285313	broad.mit.edu	37	3	151164521	151164521	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr3:151164521C>T	ENST00000282466.3	-	4	3247	c.3248G>A	c.(3247-3249)aGt>aAt	p.S1083N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1083					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGAGCAGCACTTGGAAAAGA	0.488																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3247-3249)aGt>aAt		immunoglobulin superfamily, member 10							134.0	136.0	135.0					3																	151164521		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164521C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3248G>A	3.37:g.151164521C>T	ENSP00000282466:p.Ser1083Asn						p.S1083N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3247	-			1083					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3248G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244253	0.22796	.	.	ENSG00000152580	ENST00000282466	T	0.69306	-0.39	5.46	1.44	0.22558	.	0.983709	0.08281	N	0.969987	T	0.48409	0.1498	L	0.32530	0.975	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.14868	-1.0457	10	0.14252	T	0.57	.	9.215	0.37342	0.0:0.3947:0.4677:0.1376	.	1083	Q6WRI0	IGS10_HUMAN	N	1083	ENSP00000282466:S1083N	ENSP00000282466:S1083N	S	-	2	0	IGSF10	152647211	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.080000	0.11339	-0.019000	0.14055	0.591000	0.81541	AGT		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		33	79	0	0	0	1	0	33	79				
ITPRIP	85450	broad.mit.edu	37	10	106074846	106074846	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr10:106074846C>T	ENST00000337478.1	-	2	1135	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.D322N|ITPRIP_ENST00000278071.2_Missense_Mutation_p.D322N	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	322						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AAGGCCAGGTCGAACTCGTAC	0.572																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(964-966)Gac>Aac		inositol 1,4,5-trisphosphate receptor interacting protein							81.0	78.0	79.0					10																	106074846		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106074846C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.964G>A	10.37:g.106074846C>T	ENSP00000337178:p.Asp322Asn					ITPRIP_ENST00000337478.1_Missense_Mutation_p.D322N|ITPRIP_ENST00000358187.2_Missense_Mutation_p.D322N	p.D322N	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1416	-			322					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.964G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909338	0.72868	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23754	1.89;1.89;1.89	5.09	5.09	0.68999	.	0.100221	0.64402	D	0.000002	T	0.46034	0.1372	M	0.70595	2.14	0.35607	D	0.808324	D	0.76494	0.999	P	0.62298	0.9	T	0.57505	-0.7800	10	0.51188	T	0.08	-33.5906	13.2165	0.59863	0.0:0.9231:0.0:0.0769	.	322	Q8IWB1	IPRI_HUMAN	N	322	ENSP00000337178:D322N;ENSP00000278071:D322N;ENSP00000350915:D322N	ENSP00000278071:D322N	D	-	1	0	ITPRIP	106064836	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	3.992000	0.56980	2.517000	0.84864	0.462000	0.41574	GAC		0.572	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		25	61	0	0	0	1	0	25	61				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369338.1_Splice_Site|NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369339.3_Intron																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	5	62	0	0	0	1	0	5	62				
OR5M3	219482	broad.mit.edu	37	11	56237552	56237552	+	Missense_Mutation	SNP	C	C	T	rs571368907		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:56237552C>T	ENST00000312240.2	-	1	462	c.422G>A	c.(421-423)cGa>cAa	p.R141Q		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTAATCAGTCGAATACAGAC	0.398																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(421-423)cGa>cAa		olfactory receptor, family 5, subfamily M, member 3							101.0	93.0	96.0					11																	56237552		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237552C>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.422G>A	11.37:g.56237552C>T	ENSP00000312208:p.Arg141Gln						p.R141Q	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	462	-	Esophageal squamous(21;0.00448)		141					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.422G>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040553	0.02013	.	.	ENSG00000174937	ENST00000312240	T	0.00076	8.76	5.13	0.706	0.18133	GPCR, rhodopsin-like superfamily (1);	0.195954	0.25447	N	0.030606	T	0.00039	0.0001	N	0.02854	-0.475	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.12708	-1.0537	10	0.21014	T	0.42	-0.7539	1.9836	0.03432	0.2762:0.4307:0.1345:0.1586	.	141	Q8NGP4	OR5M3_HUMAN	Q	141	ENSP00000312208:R141Q	ENSP00000312208:R141Q	R	-	2	0	OR5M3	55994128	0.000000	0.05858	0.012000	0.15200	0.567000	0.35839	-3.076000	0.00616	0.152000	0.19188	0.478000	0.44815	CGA		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		43	93	0	0	0	1	0	43	93				
NEU2	4759	broad.mit.edu	37	2	233898824	233898824	+	Splice_Site	SNP	A	A	C			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:233898824A>C	ENST00000233840.3	+	2	201		c.e2-1			NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)						ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CTCCCTACTCAGTGGCAAGCT	0.637																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.e2-1		sialidase 2 (cytosolic sialidase)							82.0	82.0	82.0					2																	233898824		2203	4300	6503	SO:0001630	splice_region_variant	4759						exo-alpha-sialidase activity	g.chr2:233898824A>C	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.202-1A>C	2.37:g.233898824A>C								NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	201	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)						Q3KNW4|Q6NTB4	Splice_Site	SNP	ENST00000233840.3	37		CCDS2501.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421427	0.62622	.	.	ENSG00000115488	ENST00000233840	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4315	0.61057	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEU2	233607068	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	6.260000	0.72502	1.765000	0.52091	0.459000	0.35465	.		0.637	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	Intron	23	56	0	0	0	1	0	23	56				
CPT1C	126129	broad.mit.edu	37	19	50212049	50212049	+	Missense_Mutation	SNP	C	C	A	rs141796718		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:50212049C>A	ENST00000392518.4	+	14	1891	c.1519C>A	c.(1519-1521)Ccc>Acc	p.P507T	CPT1C_ENST00000354199.5_Missense_Mutation_p.P507T|CPT1C_ENST00000405931.2_Missense_Mutation_p.P496T|CPT1C_ENST00000598293.1_Missense_Mutation_p.P507T|CPT1C_ENST00000323446.5_Missense_Mutation_p.P507T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	507					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCACCCGGACCCCACACTACC	0.592																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1519-1521)Ccc>Acc		carnitine palmitoyltransferase 1C							88.0	85.0	86.0					19																	50212049		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50212049C>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1519C>A	19.37:g.50212049C>A	ENSP00000376303:p.Pro507Thr					CPT1C_ENST00000323446.5_Missense_Mutation_p.P507T|CPT1C_ENST00000405931.2_Missense_Mutation_p.P496T|CPT1C_ENST00000598293.1_Missense_Mutation_p.P507T|CPT1C_ENST00000354199.5_Missense_Mutation_p.P507T	p.P507T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	14	1891	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	507					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1519C>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	6.860	0.527963	0.13127	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	4.42	1.02	0.19986	.	0.282093	0.25598	N	0.029563	D	0.87724	0.6249	L	0.33093	0.98	0.09310	N	1	B;D;P;P	0.89917	0.135;1.0;0.539;0.77	B;D;B;P	0.91635	0.115;0.999;0.159;0.463	T	0.77264	-0.2652	10	0.19590	T	0.45	-14.511	6.5608	0.22485	0.0:0.5861:0.0:0.4139	.	378;507;496;507	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	T	507;507;496;507;378	ENSP00000376303:P507T;ENSP00000346138:P507T;ENSP00000384465:P496T;ENSP00000319343:P507T	ENSP00000295404:P378T	P	+	1	0	CPT1C	54903861	0.000000	0.05858	0.043000	0.18650	0.648000	0.38561	-0.107000	0.10873	0.494000	0.27859	0.456000	0.33151	CCC		0.592	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		23	71	1	0	5.35356e-11	1	5.74291e-11	23	71				
COL21A1	81578	broad.mit.edu	37	6	55939043	55939043	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr6:55939043G>A	ENST00000244728.5	-	20	2349	c.1952C>T	c.(1951-1953)aCa>aTa	p.T651I	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.T51I|COL21A1_ENST00000370819.1_Missense_Mutation_p.T648I|COL21A1_ENST00000535941.1_Missense_Mutation_p.T651I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	651					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGATCCCGGTGTTCCAGGCTG	0.323																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1951-1953)aCa>aTa		collagen, type XXI, alpha 1							89.0	87.0	88.0					6																	55939043		1810	4065	5875	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55939043G>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1952C>T	6.37:g.55939043G>A	ENSP00000244728:p.Thr651Ile					COL21A1_ENST00000370808.2_Missense_Mutation_p.T51I|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.T651I|COL21A1_ENST00000370819.1_Missense_Mutation_p.T648I	p.T651I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		20	2349	-	Lung NSC(77;0.0483)		651			Collagen-like 3.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1952C>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	5.537	0.284072	0.10513	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.94280	-3.25;-3.39;-3.25;-3.25	4.56	-0.433	0.12287	.	0.361566	0.22973	N	0.053415	T	0.72078	0.3416	N	0.16903	0.455	0.19775	N	0.999959	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.09377	0.0;0.0;0.004	T	0.65524	-0.6147	10	0.33141	T	0.24	.	7.4886	0.27447	0.4941:0.0:0.5059:0.0	.	51;651;651	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	I	651;648;651;648;51	ENSP00000244728:T651I;ENSP00000359855:T648I;ENSP00000444384:T651I;ENSP00000359844:T51I	ENSP00000244728:T651I	T	-	2	0	COL21A1	56047002	0.160000	0.22878	0.153000	0.22517	0.821000	0.46438	0.201000	0.17276	-0.106000	0.12110	-0.137000	0.14449	ACA		0.323	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			17	49	0	0	0	1	0	17	49				
PCDHA6	56142	broad.mit.edu	37	5	140209518	140209518	+	Silent	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr5:140209518G>A	ENST00000529310.1	+	1	1956	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	614	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P614P(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCCCCGGCAAGCAGCG	0.672																																						ENST00000529310.1																			2	Substitution - coding silent(2)	p.P614P(2)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1840-1842)ccG>ccA									72.0	75.0	74.0					5																	140209518		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209518G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1842G>A	5.37:g.140209518G>A						PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.P614P	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1956	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1842G>A	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		26	74	0	0	0	1	0	26	74				
EPS15	2060	broad.mit.edu	37	1	51868169	51868169	+	Missense_Mutation	SNP	G	G	A	rs368190737		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:51868169G>A	ENST00000371733.3	-	18	1916	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000396122.4_Missense_Mutation_p.S284L|EPS15_ENST00000371730.2_Missense_Mutation_p.S473L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	607	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACCTGTCAGCGAACTTGAGTC	0.264			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1819-1821)tCg>tTg		epidermal growth factor receptor pathway substrate 15		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	64.0	67.0	66.0		878,1820	6.0	1.0	1		66	0,8598		0,0,4299	no	missense,missense	EPS15	NM_001159969.1,NM_001981.2	145,145	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	293/583,607/897	51868169	1,13003	2203	4299	6502	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51868169G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1820C>T	1.37:g.51868169G>A	ENSP00000360798:p.Ser607Leu					EPS15_ENST00000396122.4_Missense_Mutation_p.S284L|EPS15_ENST00000371730.2_Missense_Mutation_p.S473L	p.S607L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			18	1916	-			607			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1820C>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351884	0.41700	2.27E-4	0.0	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.18810	2.19;2.19;2.19	5.96	5.96	0.96718	.	.	.	.	.	T	0.21022	0.0506	L	0.40543	1.245	0.38786	D	0.954878	P;B;D	0.53312	0.734;0.201;0.959	B;B;B	0.42771	0.101;0.021;0.397	T	0.01776	-1.1276	9	0.32370	T	0.25	.	15.9415	0.79758	0.0:0.0:0.8644:0.1356	.	473;607;293	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	L	473;607;284	ENSP00000360795:S473L;ENSP00000360798:S607L;ENSP00000379428:S284L	ENSP00000360795:S473L	S	-	2	0	EPS15	51640757	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.419000	0.66435	2.830000	0.97506	0.585000	0.79938	TCG		0.264	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		8	95	0	0	0	1	0	8	95				
OR2A5	393046	broad.mit.edu	37	7	143748153	143748153	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr7:143748153G>A	ENST00000408906.2	+	1	693	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTACTCGCGCATCCTGGCG	0.607																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(658-660)cGc>cAc		olfactory receptor, family 2, subfamily A, member 5							112.0	113.0	113.0					7																	143748153		2023	4184	6207	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748153G>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.659G>A	7.37:g.143748153G>A	ENSP00000386208:p.Arg220His						p.R220H	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	693	+	Melanoma(164;0.0783)		220					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.659G>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.114105	0.00349	.	.	ENSG00000221836	ENST00000408906	T	0.00107	8.72	5.37	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.528899	0.14160	N	0.337442	T	0.00073	0.0002	N	0.04820	-0.15	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.21211	-1.0252	10	0.02654	T	1	.	4.2447	0.10665	0.2551:0.0:0.5845:0.1604	.	220	Q96R48	OR2A5_HUMAN	H	220	ENSP00000386208:R220H	ENSP00000386208:R220H	R	+	2	0	OR2A5	143379086	0.020000	0.18652	0.896000	0.35187	0.007000	0.05969	0.923000	0.28757	0.851000	0.35264	-0.142000	0.14014	CGC		0.607	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			4	187	0	0	0	1	0	4	187				
HMCN1	83872	broad.mit.edu	37	1	185834881	185834881	+	Silent	SNP	T	T	C			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:185834881T>C	ENST00000271588.4	+	4	736	c.507T>C	c.(505-507)ttT>ttC	p.F169F	HMCN1_ENST00000367492.2_Silent_p.F169F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	169	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCGTATTTGTTCTGACTG	0.338																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(505-507)ttT>ttC		hemicentin 1							72.0	75.0	74.0					1																	185834881		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185834881T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.507T>C	1.37:g.185834881T>C						HMCN1_ENST00000367492.2_Silent_p.F169F	p.F169F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			4	736	+			169			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.507T>C	CCDS30956.1																																																																																				0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	39	0	0	0	1	0	28	39				
CYTIP	9595	broad.mit.edu	37	2	158272280	158272280	+	Missense_Mutation	SNP	C	C	T	rs202198683		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:158272280C>T	ENST00000264192.3	-	8	1110	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	CYTIP_ENST00000540637.1_Missense_Mutation_p.R224Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	330					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCTGCTCTTCCGGGGCAGGGT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19026	0.001		0.0	False		,,,				2504	0.0					ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(988-990)cGg>cAg		cytohesin 1 interacting protein							95.0	90.0	92.0					2																	158272280		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272280C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.989G>A	2.37:g.158272280C>T	ENSP00000264192:p.Arg330Gln					CYTIP_ENST00000540637.1_Missense_Mutation_p.R224Q	p.R330Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1110	-			330					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.989G>A	CCDS2204.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.608138	0.96626	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.63417	1.19;-0.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.76002	2.32	0.47698	D	0.999498	D	0.89917	1.0	D	0.87578	0.998	T	0.80023	-0.1556	10	0.62326	D	0.03	-16.9359	20.4745	0.99168	0.0:1.0:0.0:0.0	.	330	O60759	CYTIP_HUMAN	Q	330;224	ENSP00000264192:R330Q;ENSP00000440801:R224Q	ENSP00000264192:R330Q	R	-	2	0	CYTIP	157980526	0.940000	0.31905	0.993000	0.49108	0.988000	0.76386	6.523000	0.73787	2.941000	0.99782	0.655000	0.94253	CGG		0.512	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		25	44	0	0	0	1	0	25	44				
DGKI	9162	broad.mit.edu	37	7	137237147	137237147	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr7:137237147G>T	ENST00000288490.5	-	20	2115	c.2115C>A	c.(2113-2115)agC>agA	p.S705R	DGKI_ENST00000453654.2_Missense_Mutation_p.S405R|DGKI_ENST00000446122.1_Missense_Mutation_p.S705R|DGKI_ENST00000424189.2_Missense_Mutation_p.S705R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	705					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTCCTCTTGCTCTTCTGTA	0.512																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1213-1215)agC>agA		diacylglycerol kinase, iota							178.0	135.0	149.0					7																	137237147		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237147G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2115C>A	7.37:g.137237147G>T	ENSP00000288490:p.Ser705Arg					DGKI_ENST00000288490.5_Missense_Mutation_p.S705R|DGKI_ENST00000446122.1_Missense_Mutation_p.S705R|DGKI_ENST00000424189.2_Missense_Mutation_p.S705R	p.S405R			O75912	DGKI_HUMAN			20	1754	-			705			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1215C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867850	0.51588	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34275	1.94;1.37;1.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	N	0.21142	0.635	0.80722	D	1	P;P	0.50943	0.904;0.94	B;P	0.51701	0.434;0.677	T	0.02498	-1.1150	10	0.10902	T	0.67	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	405;705	E9PFX6;O75912	.;DGKI_HUMAN	R	405;653;705;705;705	ENSP00000392161:S405R;ENSP00000288490:S705R;ENSP00000399131:S705R	ENSP00000288490:S705R	S	-	3	2	DGKI	136887687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	AGC		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		6	81	1	0	0.00116845	1	0.00120944	6	81				
DDI1	414301	broad.mit.edu	37	11	103908337	103908337	+	Missense_Mutation	SNP	G	G	A	rs114046986		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:103908337G>A	ENST00000302259.3	+	1	1030	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	263							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGACTCGGGCGCCCAGATGAC	0.537																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(787-789)Gcc>Acc		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							92.0	95.0	94.0					11																	103908337		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908337G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.787G>A	11.37:g.103908337G>A	ENSP00000302805:p.Ala263Thr					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.A263T	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1030	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	263					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.787G>A	CCDS31660.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.7	4.562100	0.86335	.	.	ENSG00000170967	ENST00000302259	T	0.70869	-0.52	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.94101	3.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90538	0.4500	10	0.87932	D	0	-25.1598	16.6709	0.85266	0.0:0.0:1.0:0.0	.	263	Q8WTU0	DDI1_HUMAN	T	263	ENSP00000302805:A263T	ENSP00000302805:A263T	A	+	1	0	DDI1	103413547	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	8.821000	0.92009	2.884000	0.98904	0.655000	0.94253	GCC		0.537	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		50	69	0	0	0	1	0	50	69				
HIP1R	9026	broad.mit.edu	37	12	123333379	123333379	+	Silent	SNP	C	C	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr12:123333379C>A	ENST00000253083.4	+	4	462	c.337C>A	c.(337-339)Cgg>Agg	p.R113R		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	113	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGCAACATCCGGGAGATTGG	0.642																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(337-339)Cgg>Agg		huntingtin interacting protein 1 related							88.0	83.0	85.0					12																	123333379		2203	4300	6503	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123333379C>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.337C>A	12.37:g.123333379C>A							p.R113R	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	4	462	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		113			ENTH.		A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.337C>A	CCDS31922.1																																																																																				0.642	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		3	57	1	0	0.150653	1	0.153251	3	57				
TPR	7175	broad.mit.edu	37	1	186307346	186307346	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:186307346T>C	ENST00000367478.4	-	31	4477	c.4181A>G	c.(4180-4182)aAc>aGc	p.N1394S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1394					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTGAATTAAGTTCTGGTTGTT	0.299			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(4180-4182)aAc>aGc		translocated promoter region, nuclear basket protein							101.0	88.0	92.0					1																	186307346		1804	4069	5873	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186307346T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4181A>G	1.37:g.186307346T>C	ENSP00000356448:p.Asn1394Ser						p.N1394S	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	31	4477	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1394					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4181A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530697	0.27387	.	.	ENSG00000047410	ENST00000367478	T	0.35421	1.31	5.47	5.47	0.80525	.	0.137128	0.64402	D	0.000004	T	0.20210	0.0486	N	0.08118	0	0.32832	D	0.504166	B	0.21381	0.055	B	0.15052	0.012	T	0.15925	-1.0420	10	0.16896	T	0.51	.	15.5898	0.76517	0.0:0.0:0.0:1.0	.	1394	P12270	TPR_HUMAN	S	1394	ENSP00000356448:N1394S	ENSP00000356448:N1394S	N	-	2	0	TPR	184573969	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.494000	0.53273	2.078000	0.62432	0.528000	0.53228	AAC		0.299	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		17	27	0	0	0	1	0	17	27				
USH2A	7399	broad.mit.edu	37	1	216011338	216011338	+	Silent	SNP	A	A	G			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:216011338A>G	ENST00000307340.3	-	47	9752	c.9366T>C	c.(9364-9366)acT>acC	p.T3122T	USH2A_ENST00000366943.2_Silent_p.T3122T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3122	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTACCTTGAAGTGATGCCAC	0.383										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9364-9366)acT>acC		Usher syndrome 2A (autosomal recessive, mild)							214.0	193.0	200.0					1																	216011338		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216011338A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9366T>C	1.37:g.216011338A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.T3122T	p.T3122T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9752	-			3122			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.9366T>C	CCDS31025.1																																																																																				0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	88	0	0	0	1	0	4	88				
PCDHB10	56126	broad.mit.edu	37	5	140574091	140574091	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr5:140574091G>A	ENST00000239446.4	+	1	2150	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.711																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1966-1968)Gcc>Acc									23.0	26.0	25.0					5																	140574091		2050	3895	5945	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574091G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1966G>A	5.37:g.140574091G>A	ENSP00000239446:p.Ala656Thr						p.A656T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2150	+			656			Cadherin 6.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1966G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	12.07	1.826506	0.32329	.	.	ENSG00000120324	ENST00000239446	T	0.50548	0.74	3.03	3.03	0.35002	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41719	0.1171	L	0.41906	1.305	0.23168	N	0.998185	B	0.11235	0.004	B	0.12837	0.008	T	0.44019	-0.9355	9	0.66056	D	0.02	.	14.1979	0.65684	0.0:0.0:1.0:0.0	.	656	Q9UN67	PCDBA_HUMAN	T	656	ENSP00000239446:A656T	ENSP00000239446:A656T	A	+	1	0	PCDHB10	140554275	0.005000	0.15991	1.000000	0.80357	0.365000	0.29674	1.367000	0.34204	1.704000	0.51252	0.298000	0.19748	GCC		0.711	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		18	69	0	0	0	1	0	18	69				
ABCA9	10350	broad.mit.edu	37	17	67003937	67003937	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr17:67003937C>T	ENST00000340001.4	-	25	3609	c.3398G>A	c.(3397-3399)aGa>aAa	p.R1133K	ABCA9_ENST00000370732.2_Missense_Mutation_p.R1133K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Intron	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1133					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACTATTTTTTCTCCCATTGCG	0.313																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3397-3399)aGa>aAa		ATP-binding cassette, sub-family A (ABC1), member 9							88.0	89.0	88.0					17																	67003937		2203	4297	6500	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67003937C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3398G>A	17.37:g.67003937C>T	ENSP00000342216:p.Arg1133Lys					ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Intron|ABCA9_ENST00000370732.2_Missense_Mutation_p.R1133K	p.R1133K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			25	3609	-	Breast(10;1.47e-12)		1133					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3398G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	7.509	0.654311	0.14580	.	.	ENSG00000154258	ENST00000340001;ENST00000370732	D;D	0.82167	-1.58;-1.58	4.74	1.67	0.24075	.	0.116034	0.37809	N	0.001928	T	0.70762	0.3261	L	0.42581	1.335	0.09310	N	1	B	0.19935	0.04	B	0.24006	0.05	T	0.51458	-0.8703	10	0.15499	T	0.54	.	4.6556	0.12615	0.0:0.5729:0.161:0.2661	.	1133	Q8IUA7	ABCA9_HUMAN	K	1133	ENSP00000342216:R1133K;ENSP00000359767:R1133K	ENSP00000342216:R1133K	R	-	2	0	ABCA9	64515532	0.000000	0.05858	0.017000	0.16124	0.435000	0.31806	-0.571000	0.05889	0.186000	0.20125	-0.484000	0.04775	AGA		0.313	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		31	58	0	0	0	1	0	31	58				
CMA1	1215	broad.mit.edu	37	14	24975732	24975732	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr14:24975732T>G	ENST00000250378.3	-	3	317	c.288A>C	c.(286-288)caA>caC	p.Q96H	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GATGACGGAATTGCTTTATAA	0.428																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(286-288)caA>caC		chymase 1, mast cell							367.0	319.0	335.0					14																	24975732		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975732T>G		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.288A>C	14.37:g.24975732T>G	ENSP00000250378:p.Gln96His					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	p.Q96H	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	3	317	-			96			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.288A>C	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442263	0.43326	.	.	ENSG00000092009	ENST00000250378	D	0.88509	-2.39	5.52	1.84	0.25277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000047	D	0.86222	0.5881	N	0.12471	0.22	0.44268	D	0.997128	D	0.89917	1.0	D	0.97110	1.0	T	0.83318	-0.0019	10	0.59425	D	0.04	.	6.7204	0.23327	0.0:0.2889:0.0:0.7111	.	96	P23946	CMA1_HUMAN	H	96	ENSP00000250378:Q96H	ENSP00000250378:Q96H	Q	-	3	2	CMA1	24045572	0.085000	0.21516	0.225000	0.23894	0.282000	0.26991	-0.119000	0.10676	0.161000	0.19458	0.533000	0.62120	CAA		0.428	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			38	101	0	0	0	1	0	38	101				
QRICH2	84074	broad.mit.edu	37	17	74272813	74272813	+	Missense_Mutation	SNP	G	G	C	rs368576920		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr17:74272813G>C	ENST00000262765.5	-	17	4982	c.4803C>G	c.(4801-4803)caC>caG	p.H1601Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1601										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTTGTAAATGTGGCCATCCA	0.597																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(4801-4803)caC>caG		glutamine rich 2							117.0	91.0	100.0					17																	74272813		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74272813G>C	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4803C>G	17.37:g.74272813G>C	ENSP00000262765:p.His1601Gln						p.H1601Q	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			17	4982	-			1601					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4803C>G	CCDS32741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378700|2.378700	0.42207|0.42207	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000532549|ENST00000262765	.|T	.|0.17054	.|2.3	5.63|5.63	-4.37|-4.37	0.03633|0.03633	.|.	.|.	.|.	.|.	.|.	T|T	0.31295|0.31295	0.0792|0.0792	L|L	0.52126|0.52126	1.63|1.63	0.25579|0.25579	N|N	0.986818|0.986818	.|D	.|0.71674	.|0.998	.|D	.|0.64237	.|0.923	T|T	0.33523|0.33523	-0.9865|-0.9865	5|9	.|0.49607	.|T	.|0.09	-32.7874|-32.7874	16.9865|16.9865	0.86341|0.86341	0.3038:0.0:0.6962:0.0|0.3038:0.0:0.6962:0.0	.|.	.|1601	.|Q9H0J4	.|QRIC2_HUMAN	D|Q	200|1601	.|ENSP00000262765:H1601Q	.|ENSP00000262765:H1601Q	H|H	-|-	1|3	0|2	QRICH2|QRICH2	71784408|71784408	0.788000|0.788000	0.28762|0.28762	0.963000|0.963000	0.40424|0.40424	0.874000|0.874000	0.50279|0.50279	-0.171000|-0.171000	0.09883|0.09883	-0.836000|-0.836000	0.04229|0.04229	-0.367000|-0.367000	0.07326|0.07326	CAT|CAC		0.597	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		40	67	0	0	0	1	0	40	67				
PCSK2	5126	broad.mit.edu	37	20	17446197	17446197	+	Splice_Site	SNP	G	G	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr20:17446197G>T	ENST00000262545.2	+	11	1744	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	PCSK2_ENST00000377899.1_Splice_Site_p.E458*|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Splice_Site_p.E442*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	477					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAGGACCCTGAGTAAGTGGG	0.537																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e11+1		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						44.0	44.0	44.0					20																	17446197		2203	4300	6503	SO:0001630	splice_region_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446197G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1430+1G>T	20.37:g.17446197G>T						PCSK2_ENST00000536609.1_Splice_Site_p.E442_splice|PCSK2_ENST00000377899.1_Splice_Site_p.E458_splice|PCSK2_ENST00000459871.1_3'UTR	p.E477_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			11	1744	+			477					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37	c.1430_splice	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	42	9.360997	0.99148	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	5.68	4.73	0.59995	.	0.232716	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-27.7534	9.5846	0.39508	0.1605:0.0:0.8395:0.0	.	.	.	.	X	458;477;442	.	ENSP00000262545:E477X	E	+	1	0	PCSK2	17394197	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.858000	0.55979	1.398000	0.46701	0.555000	0.69702	GAG		0.537	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Nonsense_Mutation	11	11	1	0	0.000151284	1	0.000159389	11	11				
IRF7	3665	broad.mit.edu	37	11	614247	614247	+	Silent	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:614247C>T	ENST00000397574.2	-	6	975	c.606G>A	c.(604-606)ggG>ggA	p.G202G	IRF7_ENST00000525445.1_Silent_p.G96G|IRF7_ENST00000397570.1_Silent_p.G202G|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000330243.5_Silent_p.G215G|IRF7_ENST00000348655.6_Silent_p.G202G|IRF7_ENST00000397566.1_Silent_p.G215G	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	202					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGATCTGCCCCCCATGACG	0.677																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(643-645)ggG>ggA		interferon regulatory factor 7							43.0	42.0	43.0					11																	614247		2200	4299	6499	SO:0001819	synonymous_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:614247C>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.606G>A	11.37:g.614247C>T						IRF7_ENST00000348655.6_Silent_p.G202G|IRF7_ENST00000330243.5_Silent_p.G215G|IRF7_ENST00000397570.1_Silent_p.G202G|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000397574.2_Silent_p.G202G|IRF7_ENST00000525445.1_Silent_p.G96G	p.G215G	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1054	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	202					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	c.645G>A	CCDS7703.1																																																																																				0.677	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		3	13	0	0	0	1	0	3	13				
DSCC1	79075	broad.mit.edu	37	8	120859294	120859294	+	Silent	SNP	T	T	C			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr8:120859294T>C	ENST00000313655.4	-	4	727	c.513A>G	c.(511-513)caA>caG	p.Q171Q		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	171					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGCCTGAATTTGATCAAGCA	0.303																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(511-513)caA>caG		DNA replication and sister chromatid cohesion 1							86.0	81.0	83.0					8																	120859294		2203	4299	6502	SO:0001819	synonymous_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120859294T>C		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.513A>G	8.37:g.120859294T>C							p.Q171Q	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	727	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		171					Q969N5	Silent	SNP	ENST00000313655.4	37	c.513A>G	CCDS6330.1																																																																																				0.303	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		11	37	0	0	0	1	0	11	37				
LETM1	3954	broad.mit.edu	37	4	1821092	1821092	+	Silent	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr4:1821092C>T	ENST00000302787.2	-	11	2012	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	572					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CATCCTCCTTCAGCAGCTCCA	0.527																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1714-1716)ctG>ctA		leucine zipper-EF-hand containing transmembrane protein 1							131.0	105.0	114.0					4																	1821092		2203	4300	6503	SO:0001819	synonymous_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1821092C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1716G>A	4.37:g.1821092C>T							p.L572L	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		11	2012	-			572					B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	c.1716G>A	CCDS3355.1																																																																																				0.527	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			27	24	0	0	0	1	0	27	24				
CCDC141	285025	broad.mit.edu	37	2	179702125	179702125	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:179702125T>A	ENST00000420890.2	-	23	3938	c.3821A>T	c.(3820-3822)gAt>gTt	p.D1274V	CCDC141_ENST00000295723.5_Missense_Mutation_p.D699V|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1274										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTGCATGCATCCGCAAAGGC	0.522																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3820-3822)gAt>gTt		coiled-coil domain containing 141							84.0	85.0	85.0					2																	179702125		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179702125T>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3821A>T	2.37:g.179702125T>A	ENSP00000395995:p.Asp1274Val					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D699V	p.D1274V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	3938	-			699					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.3821A>T		.	.	.	.	.	.	.	.	.	.	T	20.7	4.031787	0.75504	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.57907	0.37;0.95;0.95	4.84	4.84	0.62591	.	0.295669	0.28624	N	0.014699	T	0.67088	0.2856	L	0.55481	1.735	0.54753	D	0.999981	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.70809	-0.4771	10	0.87932	D	0	-7.2851	15.1269	0.72489	0.0:0.0:0.0:1.0	.	699;699	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	V	1274;718;699	ENSP00000395995:D1274V;ENSP00000344627:D718V;ENSP00000295723:D699V	ENSP00000295723:D699V	D	-	2	0	CCDC141	179410370	1.000000	0.71417	0.462000	0.27118	0.983000	0.72400	3.904000	0.56325	2.100000	0.63781	0.528000	0.53228	GAT		0.522	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		23	38	0	0	0	1	0	23	38				
NME9	347736	broad.mit.edu	37	3	138036991	138036991	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr3:138036991G>A	ENST00000333911.3	-	4	293	c.266C>T	c.(265-267)gCa>gTa	p.A89V	NME9_ENST00000536478.1_Splice_Site_p.A67V|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Splice_Site_p.A67V|NME9_ENST00000484930.1_Intron|NME9_ENST00000383180.2_Splice_Site_p.A67V			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	89	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGTACTTACTGCATAAAACAG	0.398																																						ENST00000383180.2																			0											c.e6+1		NME/NM23 family member 9							130.0	117.0	121.0					3																	138036991		2203	4300	6503	SO:0001630	splice_region_variant	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138036991G>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.267+1C>T	3.37:g.138036991G>A						NME9_ENST00000536478.1_Splice_Site_p.A67_splice|NME9_ENST00000484930.1_Intron|NME9_ENST00000333911.3_Splice_Site_p.A89_splice|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Splice_Site_p.A67_splice	p.A67_splice	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			6	437	-			89			Thioredoxin.		Q7Z4A8|Q8N1V7	Splice_Site	SNP	ENST00000333911.3	37	c.201_splice		.	.	.	.	.	.	.	.	.	.	G	15.63	2.889411	0.52014	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000536478;ENST00000333911;ENST00000475751	T;T;T;T;T	0.13196	3.96;3.96;3.96;2.61;2.61	5.08	5.08	0.68730	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.191707	0.44688	D	0.000423	T	0.08891	0.0220	N	0.10685	0.025	0.80722	D	1	B;B	0.13145	0.004;0.007	B;B	0.15052	0.005;0.012	T	0.19844	-1.0293	10	0.46703	T	0.11	-16.9493	15.9633	0.79948	0.0:0.0:1.0:0.0	.	89;67	Q86XW9;Q86XW9-2	TXND6_HUMAN;.	V	67;67;67;89;89	ENSP00000372667:A67V;ENSP00000321929:A67V;ENSP00000440143:A67V;ENSP00000335444:A89V;ENSP00000419147:A89V	ENSP00000321929:A67V	A	-	2	0	TXNDC6	139519681	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	5.011000	0.64011	2.357000	0.79964	0.491000	0.48974	GCA		0.398	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130	Missense_Mutation	3	40	0	0	0	1	0	3	40				
ZNF33B	7582	broad.mit.edu	37	10	43088188	43088188	+	Missense_Mutation	SNP	G	G	T	rs573343671		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr10:43088188G>T	ENST00000359467.3	-	5	2324	c.2210C>A	c.(2209-2211)gCt>gAt	p.A737D	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CTGATGTTTAGCAAGGTCTGA	0.393																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2209-2211)gCt>gAt		zinc finger protein 33B							158.0	153.0	155.0					10																	43088188		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088188G>T	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2210C>A	10.37:g.43088188G>T	ENSP00000352444:p.Ala737Asp					ZNF33B_ENST00000486187.1_RNA	p.A737D	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2324	-			737					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2210C>A	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.543958	0.27563	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.29917	1.55	2.64	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21632	N	0.071478	T	0.23410	0.0566	L	0.28740	0.885	0.23411	N	0.99774	P	0.39717	0.684	B	0.43413	0.419	T	0.07908	-1.0748	10	0.36615	T	0.2	.	7.8829	0.29633	0.1342:0.0:0.8658:0.0	.	737	Q06732	ZN33B_HUMAN	D	737;703	ENSP00000352444:A737D	ENSP00000352444:A737D	A	-	2	0	ZNF33B	42408194	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-1.114000	0.03293	0.681000	0.31386	0.409000	0.27619	GCT		0.393	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		41	99	1	0	9.73076e-26	1	1.06318e-25	41	99				
HPN	3249	broad.mit.edu	37	19	35540280	35540280	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:35540280G>A	ENST00000262626.2	+	3	928	c.103G>A	c.(103-105)Gca>Aca	p.A35T	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.A35T	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	35					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CATCGGGGCGGCATCCTGGGC	0.662																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(103-105)Gca>Aca		hepsin	Coagulation factor VIIa(DB00036)						89.0	83.0	85.0					19																	35540280		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35540280G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.103G>A	19.37:g.35540280G>A	ENSP00000262626:p.Ala35Thr					HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.A35T	p.A35T	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	928	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		35					B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.103G>A	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341356	0.60963	.	.	ENSG00000105707	ENST00000262626;ENST00000392226	D;D	0.89196	-2.48;-2.48	4.85	3.73	0.42828	.	0.152293	0.43260	D	0.000582	D	0.88280	0.6394	L	0.27053	0.805	0.45837	D	0.998703	D	0.63880	0.993	D	0.74674	0.984	D	0.84507	0.0620	10	0.24483	T	0.36	.	9.8713	0.41175	0.0:0.0:0.7961:0.2039	.	35	P05981	HEPS_HUMAN	T	35	ENSP00000262626:A35T;ENSP00000376060:A35T	ENSP00000262626:A35T	A	+	1	0	HPN	40232120	0.843000	0.29541	0.589000	0.28718	0.756000	0.42949	2.984000	0.49353	2.396000	0.81511	0.313000	0.20887	GCA		0.662	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		4	109	0	0	0	1	0	4	109				
ADAMTS2	9509	broad.mit.edu	37	5	178634658	178634658	+	Silent	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr5:178634658G>A	ENST00000251582.7	-	4	848	c.747C>T	c.(745-747)caC>caT	p.H249H	ADAMTS2_ENST00000274609.5_Silent_p.H249H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	249					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCTGTTGGCGTGCTCCTCTA	0.657																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(745-747)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							109.0	92.0	98.0					5																	178634658		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634658G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.747C>T	5.37:g.178634658G>A						ADAMTS2_ENST00000274609.5_Silent_p.H249H	p.H249H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	4	848	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	249						Silent	SNP	ENST00000251582.7	37	c.747C>T	CCDS4444.1																																																																																				0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	96	0	0	0	1	0	6	96				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			7	56	0	0	0	1	0	7	56				
GAL3ST3	89792	broad.mit.edu	37	11	65810901	65810901	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:65810901C>T	ENST00000312006.4	-	3	654	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.V125M	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	125					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CTGGCCAGCACGTGCGGCGGC	0.711																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(373-375)Gtg>Atg		galactose-3-O-sulfotransferase 3							13.0	16.0	15.0					11																	65810901		2185	4258	6443	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810901C>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.373G>A	11.37:g.65810901C>T	ENSP00000308591:p.Val125Met					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.V125M	p.V125M	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	654	-			125					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.373G>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974393	0.34848	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.18810	2.19;2.19	4.62	-0.287	0.12858	.	0.513086	0.18906	N	0.127917	T	0.11922	0.0290	N	0.21282	0.65	0.26327	N	0.977578	B	0.11235	0.004	B	0.09377	0.004	T	0.22034	-1.0228	10	0.33940	T	0.23	-15.9552	8.9044	0.35515	0.0:0.5704:0.0:0.4296	.	125	Q96A11	G3ST3_HUMAN	M	125	ENSP00000308591:V125M;ENSP00000434829:V125M	ENSP00000308591:V125M	V	-	1	0	GAL3ST3	65567477	0.391000	0.25221	0.994000	0.49952	0.989000	0.77384	-0.283000	0.08433	-0.007000	0.14345	0.561000	0.74099	GTG		0.711	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		8	13	0	0	0	1	0	8	13				
C2orf44	80304	broad.mit.edu	37	2	24262247	24262247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:24262247G>A	ENST00000295148.4	-	2	175	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGAAGCCGCAAATCAGTT	0.507			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(118-120)Cgg>Tgg		chromosome 2 open reading frame 44							119.0	105.0	110.0					2																	24262247		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262247G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.118C>T	2.37:g.24262247G>A	ENSP00000295148:p.Arg40Trp					C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		40					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.118C>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874935	0.17395	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.43688	3.4;3.4;0.94	5.24	3.37	0.38596	.	0.488094	0.24352	N	0.039266	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.61;0.924	B;B	0.40782	0.275;0.34	T	0.05209	-1.0899	10	0.39692	T	0.17	2.1853	7.5072	0.27551	0.1561:0.0:0.7084:0.1355	.	40;40	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	W	40	ENSP00000295148:R40W;ENSP00000385816:R40W;ENSP00000413426:R40W	ENSP00000295148:R40W	R	-	1	2	C2orf44	24115751	0.973000	0.33851	0.336000	0.25522	0.420000	0.31355	1.353000	0.34045	0.660000	0.30964	0.655000	0.94253	CGG		0.507	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		3	59	0	0	0	1	0	3	59				
PDE6D	5147	broad.mit.edu	37	2	232602765	232602765	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:232602765G>A	ENST00000287600.4	-	3	417	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	PDE6D_ENST00000409772.1_Missense_Mutation_p.R75C	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	75					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)	p.R75C(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		TGTTCCAGGCGGAATTTTTCC	0.443																																						ENST00000287600.4																			1	Substitution - Missense(1)	p.R75C(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(223-225)Cgc>Tgc		phosphodiesterase 6D, cGMP-specific, rod, delta							143.0	132.0	136.0					2																	232602765		2203	4300	6503	SO:0001583	missense	5147				regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding	g.chr2:232602765G>A	AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"""Phosphodiesterases"""	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.223C>T	2.37:g.232602765G>A	ENSP00000287600:p.Arg75Cys					PDE6D_ENST00000409772.1_Missense_Mutation_p.R75C	p.R75C	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)	3	417	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)	75					O43250	Missense_Mutation	SNP	ENST00000287600.4	37	c.223C>T	CCDS33398.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144284	0.57044	.	.	ENSG00000156973	ENST00000287600;ENST00000409772;ENST00000428104	.	.	.	5.65	5.65	0.86999	Immunoglobulin E-set (1);	0.047608	0.85682	D	0.000000	T	0.63698	0.2533	M	0.85462	2.755	0.80722	D	1	B;P	0.48694	0.445;0.914	B;B	0.41619	0.09;0.361	T	0.71968	-0.4432	9	0.62326	D	0.03	-3.6776	14.5602	0.68130	0.0:0.0:0.8538:0.1462	.	75;75	B8ZZK5;O43924	.;PDE6D_HUMAN	C	75;75;56	.	ENSP00000287600:R75C	R	-	1	0	PDE6D	232311009	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.826000	0.55738	2.660000	0.90430	0.467000	0.42956	CGC		0.443	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332407.1			22	36	0	0	0	1	0	22	36				
PRDM2	7799	broad.mit.edu	37	1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TACCATCACCGTAACCCCATG	0.443																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3922-3924)cGt>cAt		PR domain containing 2, with ZNF domain							140.0	139.0	139.0					1																	14108213		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108213G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3923G>A	1.37:g.14108213G>A	ENSP00000235372:p.Arg1308His					PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	p.R1308H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4779	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1308					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3923G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502016	0.64298	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02050	4.59;4.48;4.48;4.48	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.29908	0.895	0.47037	D	0.999293	D;B;B	0.89917	1.0;0.167;0.257	D;B;B	0.74023	0.982;0.031;0.042	T	0.38672	-0.9650	10	0.87932	D	0	.	10.4416	0.44469	0.1477:0.0:0.8523:0.0	.	1166;1308;1308	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1308;1308;1308;1107;1107	ENSP00000235372:R1308H;ENSP00000312352:R1308H;ENSP00000411103:R1107H;ENSP00000341621:R1107H	ENSP00000235372:R1308H	R	+	2	0	PRDM2	13980800	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	6.781000	0.75068	1.635000	0.50512	0.655000	0.94253	CGT		0.443	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		4	164	0	0	0	1	0	4	164				
MRGPRX3	117195	broad.mit.edu	37	11	18159128	18159128	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:18159128C>G	ENST00000396275.2	+	3	740	c.379C>G	c.(379-381)Ccc>Gcc	p.P127A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATCCTGTGGCCCATCTGGTA	0.572																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(379-381)Ccc>Gcc		MAS-related GPR, member X3							122.0	114.0	117.0					11																	18159128		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159128C>G		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.379C>G	11.37:g.18159128C>G	ENSP00000379571:p.Pro127Ala						p.P127A	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	740	+			127					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.379C>G	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461289	0.43736	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.60424	0.19;0.19	1.46	0.49	0.16861	GPCR, rhodopsin-like superfamily (1);	0.090649	0.48767	D	0.000162	T	0.78349	0.4269	H	0.95816	3.725	0.24607	N	0.993749	D	0.89917	1.0	D	0.87578	0.998	T	0.67542	-0.5644	10	0.87932	D	0	.	6.8887	0.24216	0.2756:0.7244:0.0:0.0	.	127	Q96LB0	MRGX3_HUMAN	A	127	ENSP00000379571:P127A;ENSP00000436242:P127A	ENSP00000379571:P127A	P	+	1	0	MRGPRX3	18115704	0.132000	0.22450	0.854000	0.33618	0.204000	0.24138	1.909000	0.39917	0.175000	0.19841	-0.511000	0.04467	CCC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		6	138	0	0	0	1	0	6	138				
STAB2	55576	broad.mit.edu	37	12	104118778	104118778	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr12:104118778C>T	ENST00000388887.2	+	45	4913	c.4709C>T	c.(4708-4710)gCc>gTc	p.A1570V		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTGAATTTGCCATCTGCAAC	0.468																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4708-4710)gCc>gTc		stabilin 2							166.0	172.0	170.0					12																	104118778		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104118778C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4709C>T	12.37:g.104118778C>T	ENSP00000373539:p.Ala1570Val						p.A1570V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			45	4913	+			1570			EGF-like 14.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4709C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787891	0.90367	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.97710	-4.5	5.38	5.38	0.77491	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	L	0.58969	1.84	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.99809	1.1040	10	0.87932	D	0	.	17.8939	0.88880	0.0:1.0:0.0:0.0	.	1570	Q8WWQ8	STAB2_HUMAN	V	1570;257	ENSP00000373539:A1570V	ENSP00000258495:A257V	A	+	2	0	STAB2	102642908	1.000000	0.71417	0.778000	0.31720	0.866000	0.49608	6.368000	0.73104	2.515000	0.84797	0.561000	0.74099	GCC		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	234	0	0	0	1	0	4	234				
LRFN2	57497	broad.mit.edu	37	6	40359850	40359850	+	Silent	SNP	C	C	T	rs201948377		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr6:40359850C>T	ENST00000338305.6	-	3	2744	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	734						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGACCCCTCCCGCCGCCGCAG	0.672																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2200-2202)gcG>gcA		leucine rich repeat and fibronectin type III domain containing 2							22.0	22.0	22.0					6																	40359850		2194	4289	6483	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359850C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2202G>A	6.37:g.40359850C>T							p.A734A	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2744	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		734					A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.2202G>A	CCDS34443.1																																																																																				0.672	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		9	17	0	0	0	1	0	9	17				
ITIH2	3698	broad.mit.edu	37	10	7759621	7759621	+	Missense_Mutation	SNP	C	C	T	rs199888149		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr10:7759621C>T	ENST00000358415.4	+	6	666	c.500C>T	c.(499-501)aCg>aTg	p.T167M	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.T156M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	167	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACTTCAGAACGGAAGTAAAT	0.488																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(499-501)aCg>aTg		inter-alpha-trypsin inhibitor heavy chain 2							164.0	170.0	168.0					10																	7759621		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7759621C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.500C>T	10.37:g.7759621C>T	ENSP00000351190:p.Thr167Met					ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.T156M	p.T167M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			6	666	+			167			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.500C>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814287	0.50527	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.24151	1.87;1.87;1.87	5.34	4.43	0.53597	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.049080	0.85682	D	0.000000	T	0.49115	0.1538	M	0.75447	2.3	0.53005	D	0.999961	D	0.76494	0.999	D	0.67548	0.952	T	0.53092	-0.8487	10	0.72032	D	0.01	-25.9385	14.3936	0.66996	0.0:0.9275:0.0:0.0725	.	167	P19823	ITIH2_HUMAN	M	167;142;156	ENSP00000351190:T167M;ENSP00000388826:T142M;ENSP00000368906:T156M	ENSP00000351190:T167M	T	+	2	0	ITIH2	7799627	0.960000	0.32886	0.943000	0.38184	0.037000	0.13140	2.233000	0.43027	2.484000	0.83849	0.563000	0.77884	ACG		0.488	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		9	206	0	0	0	1	0	9	206				
ZNF491	126069	broad.mit.edu	37	19	11917051	11917051	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:11917051A>G	ENST00000323169.5	+	3	614	c.283A>G	c.(283-285)Agg>Ggg	p.R95G	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AACACATGAAAGGCCTCACAC	0.393																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(283-285)Agg>Ggg		zinc finger protein 491							53.0	54.0	53.0					19																	11917051		2199	4300	6499	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917051A>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.283A>G	19.37:g.11917051A>G	ENSP00000313443:p.Arg95Gly					ZNF491_ENST00000492230.1_Intron	p.R95G	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	614	+			95					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.283A>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	9.208	1.030182	0.19512	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.33654	1.4;1.84	0.914	-1.83	0.07833	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39064	0.1064	M	0.90145	3.09	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.48603	-0.9021	9	0.87932	D	0	.	2.4194	0.04444	0.4341:0.0:0.3403:0.2256	.	95	Q8N8L2	ZN491_HUMAN	G	95	ENSP00000313443:R95G;ENSP00000392176:R95G	ENSP00000313443:R95G	R	+	1	2	ZNF491	11778051	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	-0.865000	0.04073	-1.443000	0.01068	AGG		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		31	45	0	0	0	1	0	31	45				
SLC31A1	1317	broad.mit.edu	37	9	116018436	116018436	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr9:116018436A>T	ENST00000374212.4	+	2	160	c.8A>T	c.(7-9)cAt>cTt	p.H3L	SLC31A1_ENST00000374210.6_Missense_Mutation_p.H3L|CDC26_ENST00000490408.1_Intron	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	3					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAAATGGATCATTCCCACCAT	0.383																																					Ovarian(135;1049 1799 4519 17564 28677)	ENST00000374212.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(7-9)cAt>cTt		solute carrier family 31 (copper transporter), member 1							98.0	83.0	88.0					9																	116018436		2203	4300	6503	SO:0001583	missense	1317					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:116018436A>T	U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"""Solute carriers"""	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.8A>T	9.37:g.116018436A>T	ENSP00000363329:p.His3Leu					CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.H3L	p.H3L	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN			2	160	+			3					A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	c.8A>T	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384677	0.61845	.	.	ENSG00000136868	ENST00000374212;ENST00000374210	T;T	0.70516	-0.24;-0.49	6.04	3.54	0.40534	.	0.814417	0.11271	N	0.581493	T	0.65657	0.2712	L	0.52573	1.65	0.09310	N	0.999999	B;B	0.26002	0.139;0.005	B;B	0.25140	0.058;0.015	T	0.59904	-0.7366	10	0.87932	D	0	-7.9244	10.9009	0.47051	0.6723:0.3277:0.0:0.0	.	3;3	Q5T1M3;O15431	.;COPT1_HUMAN	L	3	ENSP00000363329:H3L;ENSP00000363327:H3L	ENSP00000363327:H3L	H	+	2	0	SLC31A1	115058257	0.000000	0.05858	0.509000	0.27700	0.891000	0.51852	0.265000	0.18515	1.089000	0.41292	0.460000	0.39030	CAT		0.383	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		21	54	0	0	0	1	0	21	54				
OR51Q1	390061	broad.mit.edu	37	11	5444143	5444143	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:5444143G>A	ENST00000300778.4	+	1	803	c.713G>A	c.(712-714)cGt>cAt	p.R238H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R238H(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGACTCCGTGCCCTCAAT	0.488																																						ENST00000300778.4																			1	Substitution - Missense(1)	p.R238H(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(712-714)cGt>cAt		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							135.0	112.0	120.0					11																	5444143		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444143G>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.713G>A	11.37:g.5444143G>A	ENSP00000300778:p.Arg238His					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.R238H	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	803	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	238					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.713G>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940677	0.34283	.	.	ENSG00000167360	ENST00000300778	T	0.00188	8.59	5.0	0.992	0.19819	GPCR, rhodopsin-like superfamily (1);	0.139312	0.33854	N	0.004499	T	0.00300	0.0009	M	0.67397	2.05	0.09310	N	1	D	0.63046	0.992	P	0.54312	0.748	T	0.47129	-0.9141	10	0.87932	D	0	.	8.5457	0.33419	0.3939:0.0:0.6061:0.0	.	238	Q8NH59	O51Q1_HUMAN	H	238	ENSP00000300778:R238H	ENSP00000300778:R238H	R	+	2	0	OR51Q1	5400719	0.013000	0.17824	0.000000	0.03702	0.134000	0.20937	1.256000	0.32921	0.332000	0.23536	0.380000	0.24917	CGT		0.488	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		25	63	0	0	0	1	0	25	63				
ATP13A1	57130	broad.mit.edu	37	19	19756730	19756730	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:19756730T>C	ENST00000357324.6	-	24	3339	c.3313A>G	c.(3313-3315)Atc>Gtc	p.I1105V	ATP13A1_ENST00000291503.5_Missense_Mutation_p.I987V|GMIP_ENST00000203556.4_5'Flank|GMIP_ENST00000587238.1_5'Flank|GMIP_ENST00000445806.2_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1105						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGCCATGATGTAGACGGTG	0.582																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(3313-3315)Atc>Gtc		ATPase type 13A1							248.0	219.0	229.0					19																	19756730		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19756730T>C	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3313A>G	19.37:g.19756730T>C	ENSP00000349877:p.Ile1105Val					ATP13A1_ENST00000291503.5_Missense_Mutation_p.I987V	p.I1105V	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			24	3339	-			1105					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.3313A>G	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117045	0.56505	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.56103	0.48;0.48	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.52573	1.65	0.80722	D	1	B;B	0.31227	0.209;0.314	B;B	0.30855	0.099;0.121	T	0.51624	-0.8682	10	0.59425	D	0.04	-36.8812	11.9855	0.53145	0.0:0.0:0.0:1.0	.	1105;987	Q9HD20;Q9HD20-2	AT131_HUMAN;.	V	987;1105	ENSP00000291503:I987V;ENSP00000349877:I1105V	ENSP00000291503:I987V	I	-	1	0	ATP13A1	19617730	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.713000	0.68415	1.931000	0.55961	0.402000	0.26972	ATC		0.582	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		66	128	0	0	0	1	0	66	128				
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1				BMS1 pseudogene 20																		CCCCCACCCCGTCATGTACAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22661187G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661187G>A								NR_027293.1						0	279	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	30	0	0	0	1	0	3	30				
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			2	4						2	4	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			0							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			2	4						2	4	---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101438349	101438350	+	Frame_Shift_Ins	INS	-	-	G	rs142377552	byFrequency	TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr15:101438349_101438350insG	ENST00000329841.5	+	8	1374_1375	c.842_843insG	c.(841-846)ctggggfs	p.LG281fs	ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.LG174fs|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACGCTGGAGCTGGGGGGGAAGA	0.569																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(841-843)cggfs		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101438349_101438350insG	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.849dupG	15.37:g.101438356_101438356dupG	ENSP00000332256:p.Leu281fs					ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs|RP11-66B24.4_ENST00000560351.1_RNA	p.R281fs	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	1374_1375	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		281					Q6NT64	Frame_Shift_Ins	INS	ENST00000329841.5	37	c.842_843insG	CCDS10389.1																																																																																				0.569	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			12	48						12	48	---	---	---	---
