#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_ACHILLES_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
DLGAP3	58512	broad.mit.edu	37	1	35369906	35369906	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:35369906G>A	ENST00000373347.1	-	3	1347	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	DLGAP3_ENST00000235180.4_Missense_Mutation_p.A360V|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	360					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.A360V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTGGCTTTGGCCTTGGTCTC	0.592																																							uc001byc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1078-1080)GCC>GTC		discs, large (Drosophila) homolog-associated							56.0	51.0	53.0					1																	35369906		2196	4288	6484	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35369906G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1079C>T	1.37:g.35369906G>A	ENSP00000362444:p.Ala360Val						p.A360V	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			1	1079	-		Myeloproliferative disorder(586;0.0393)	360					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.1079C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525079	0.27299	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.26660	1.72;1.72	4.49	4.49	0.54785	.	0.307999	0.35739	N	0.003003	T	0.19927	0.0479	L	0.40543	1.245	0.31983	N	0.605679	P	0.35328	0.495	B	0.28849	0.095	T	0.19095	-1.0316	10	0.38643	T	0.18	-6.8894	13.4822	0.61342	0.0:0.1568:0.8432:0.0	.	360	O95886	DLGP3_HUMAN	V	360;360;43	ENSP00000362444:A360V;ENSP00000235180:A360V	ENSP00000235180:A360V	A	-	2	0	DLGAP3	35142493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.262000	0.51538	2.492000	0.84095	0.655000	0.94253	GCC		0.592	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		71	154	0	0	0	0.01441	0	71	154				
ERICH3	127254	broad.mit.edu	37	1	75038095	75038095	+	Missense_Mutation	SNP	G	G	T	rs564254097		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:75038095G>T	ENST00000326665.5	-	14	3517	c.3299C>A	c.(3298-3300)gCg>gAg	p.A1100E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1100	Glu-rich.							p.A1100E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTTCTTCCGCTTTAAGTTT	0.443																																							uc001dgg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3298-3300)GCG>GAG		hypothetical protein LOC127254							123.0	131.0	128.0					1																	75038095		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038095G>T																												ENST00000326665.5:c.3299C>A	1.37:g.75038095G>T	ENSP00000322609:p.Ala1100Glu						p.A1100E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3518	-			1100			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3299C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	9.179	1.023113	0.19433	.	.	ENSG00000178965	ENST00000326665	T	0.12984	2.63	4.51	-3.61	0.04556	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45542	-0.9254	9	0.06099	T	0.92	-0.2138	1.9599	0.03384	0.1962:0.1723:0.1191:0.5123	.	1100	Q5RHP9	CA173_HUMAN	E	1100	ENSP00000322609:A1100E	ENSP00000322609:A1100E	A	-	2	0	C1orf173	74810683	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.286000	0.08399	-0.345000	0.08325	-0.311000	0.09066	GCG		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			61	154	1	0	2.22609e-26	0.01441	3.47269e-26	61	154				
PLPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:99772407C>A	ENST00000370185.3	+	7	2630	c.2133C>A	c.(2131-2133)agC>agA	p.S711R	LPPR4_ENST00000370184.1_Missense_Mutation_p.S553R|LPPR4_ENST00000457765.1_Missense_Mutation_p.S653R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522																																							uc001dse.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2131-2133)AGC>AGA		plasticity related gene 1							66.0	59.0	62.0					1																	99772407		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772407C>A																												ENST00000370185.3:c.2133C>A	1.37:g.99772407C>A	ENSP00000359204:p.Ser711Arg					LPPR4_uc010oue.1_Missense_Mutation_p.S653R	p.S711R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2239	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	711					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2133C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905698	0.52333	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.24723	2.41;2.4;1.84	6.02	-1.81	0.07882	.	0.141971	0.64402	D	0.000002	T	0.15305	0.0369	L	0.36672	1.1	0.48975	D	0.99973	D;D	0.59357	0.985;0.974	P;P	0.54026	0.74;0.654	T	0.01940	-1.1243	9	.	.	.	-33.4773	12.9007	0.58123	0.0:0.4922:0.0:0.5078	.	653;711	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	711;653;553	ENSP00000359204:S711R;ENSP00000394913:S653R;ENSP00000359203:S553R	.	S	+	3	2	RP4-788L13.1	99544995	0.002000	0.14202	0.898000	0.35279	0.991000	0.79684	-0.640000	0.05440	-0.309000	0.08779	0.655000	0.94253	AGC		0.522	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			16	38	1	0	6.72482e-11	0.003163	8.96643e-11	16	38				
MOV10	4343	broad.mit.edu	37	1	113217566	113217566	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:113217566G>T	ENST00000413052.2	+	2	422	c.32G>T	c.(31-33)cGg>cTg	p.R11L	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.R11L|MOV10_ENST00000544796.1_Missense_Mutation_p.R11L|MOV10_ENST00000357443.2_Missense_Mutation_p.R11L	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	11					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R11L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGGCAGCTCCGGGAGGCGGGC	0.632																																							uc001eck.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(31-33)CGG>CTG		Mov10, Moloney leukemia virus 10, homolog							44.0	53.0	50.0					1																	113217566		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113217566G>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.32G>T	1.37:g.113217566G>T	ENSP00000399797:p.Arg11Leu					MOV10_uc001ecl.2_Missense_Mutation_p.R11L|MOV10_uc001ecn.2_Missense_Mutation_p.R11L|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	p.R11L	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	2	302	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	11					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.32G>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850367	0.71719	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000544796;ENST00000285733;ENST00000357443	D;D;D	0.92911	-3.13;-3.13;-3.13	4.58	4.58	0.56647	.	0.489617	0.19799	N	0.105800	D	0.90800	0.7111	L	0.27053	0.805	0.53688	D	0.999972	D;B	0.89917	1.0;0.06	D;B	0.81914	0.995;0.031	D	0.89211	0.3564	10	0.29301	T	0.29	-20.1849	15.2399	0.73461	0.0:0.0:1.0:0.0	.	11;11	Q9H8T8;Q9HCE1	.;MOV10_HUMAN	L	11	ENSP00000399797:R11L;ENSP00000358659:R11L;ENSP00000350028:R11L	ENSP00000285733:R11L	R	+	2	0	MOV10	113019089	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.417000	0.44653	2.527000	0.85204	0.455000	0.32223	CGG		0.632	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		39	75	1	0	6.4685e-43	0.01441	1.04029e-42	39	75				
SPAG17	200162	broad.mit.edu	37	1	118554977	118554977	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:118554977C>A	ENST00000336338.5	-	30	4371	c.4306G>T	c.(4306-4308)Gac>Tac	p.D1436Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1436						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1436Y(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAACTTTGTCTTCTCGAGTT	0.378																																							uc001ehk.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4306-4308)GAC>TAC		sperm associated antigen 17							163.0	138.0	147.0					1																	118554977		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554977C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4306G>T	1.37:g.118554977C>A	ENSP00000337804:p.Asp1436Tyr						p.D1436Y	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4374	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1436					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4306G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454707	0.63290	.	.	ENSG00000155761	ENST00000336338	T	0.60797	0.16	4.72	4.72	0.59763	.	0.198920	0.51477	D	0.000100	T	0.70579	0.3240	M	0.71581	2.175	0.45108	D	0.998122	D	0.89917	1.0	D	0.91635	0.999	T	0.74654	-0.3593	10	0.87932	D	0	.	16.6166	0.84917	0.0:1.0:0.0:0.0	.	1436	Q6Q759	SPG17_HUMAN	Y	1436	ENSP00000337804:D1436Y	ENSP00000337804:D1436Y	D	-	1	0	SPAG17	118356500	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.205000	0.65186	2.460000	0.83146	0.557000	0.71058	GAC		0.378	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		23	57	1	0	6.44725e-10	0.014323	8.38143e-10	23	57				
RPTN	126638	broad.mit.edu	37	1	152128367	152128367	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:152128367T>A	ENST00000316073.3	-	3	1272	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	403	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.Y403F(2)		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						TGTCTGACCATAGTGAGAACT	0.507																																							uc001ezs.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1207-1209)TAT>TTT		repetin							764.0	665.0	695.0					1																	152128367		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128367T>A	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.1208A>T	1.37:g.152128367T>A	ENSP00000317895:p.Tyr403Phe						p.Y403F	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1273	-			403			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1208A>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	t	10.58	1.391159	0.25118	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.11604	2.76	4.57	-0.843	0.10744	.	.	.	.	.	T	0.02304	0.0071	M	0.62723	1.935	0.09310	N	1	P	0.45126	0.851	B	0.35688	0.208	T	0.41448	-0.9508	9	0.13470	T	0.59	.	3.8926	0.09125	0.0:0.3274:0.1931:0.4796	.	403	Q6XPR3	RPTN_HUMAN	F	403;58	ENSP00000317895:Y403F	ENSP00000317895:Y403F	Y	-	2	0	RPTN	150394991	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.074000	0.14662	-0.102000	0.12197	0.318000	0.21364	TAT		0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		315	631	0	0	0	0.01441	0	315	631				
SPTA1	6708	broad.mit.edu	37	1	158627290	158627290	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:158627290C>T	ENST00000368147.4	-	19	2962	c.2782G>A	c.(2782-2784)Ggt>Agt	p.G928S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	928					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G928S(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATCAGCACCATAGTTAGTA	0.438																																							uc001fst.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2782-2784)GGT>AGT		spectrin, alpha, erythrocytic 1							128.0	132.0	131.0					1																	158627290		1948	4149	6097	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627290C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2782G>A	1.37:g.158627290C>T	ENSP00000357129:p.Gly928Ser						p.G928S	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2981	-	all_hematologic(112;0.0378)		928			Spectrin 10.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2782G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003730	0.93287	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.72835	-0.69;-0.69	4.68	4.68	0.58851	.	0.000000	0.32503	N	0.006011	D	0.84955	0.5587	M	0.89968	3.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87352	0.2338	10	0.62326	D	0.03	.	16.6727	0.85271	0.0:1.0:0.0:0.0	.	928	P02549	SPTA1_HUMAN	S	928	ENSP00000357130:G928S;ENSP00000357129:G928S	ENSP00000357129:G928S	G	-	1	0	SPTA1	156893914	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.677000	0.74503	2.569000	0.86673	0.655000	0.94253	GGT		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		28	53	0	0	0	0.005443	0	28	53				
IGSF8	93185	broad.mit.edu	37	1	160061677	160061677	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:160061677A>T	ENST00000368086.1	-	6	1994	c.1778T>A	c.(1777-1779)gTc>gAc	p.V593D	IGSF8_ENST00000314485.7_Missense_Mutation_p.V593D|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	593					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V593D(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCACCAGTGACTAGGGCCAC	0.567																																							uc001fva.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1777-1779)GTC>GAC		immunoglobulin superfamily, member 8							119.0	103.0	109.0					1																	160061677		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160061677A>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1778T>A	1.37:g.160061677A>T	ENSP00000357065:p.Val593Asp					IGSF8_uc001fuz.2_Missense_Mutation_p.V593D|IGSF8_uc009wtf.2_Missense_Mutation_p.V593D	p.V593D	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		6	1823	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		593			Helical; (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1778T>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	A	9.675	1.147792	0.21288	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.06068	3.35;3.35	3.42	2.24	0.28232	.	0.082365	0.46758	U	0.000272	T	0.02571	0.0078	N	0.19112	0.55	0.20074	N	0.999937	D	0.61697	0.99	P	0.53649	0.731	T	0.46527	-0.9185	10	0.34782	T	0.22	-11.5081	8.0901	0.30795	0.8951:0.0:0.1049:0.0	.	593	Q969P0	IGSF8_HUMAN	D	593;593;506	ENSP00000316664:V593D;ENSP00000357065:V593D	ENSP00000316664:V593D	V	-	2	0	IGSF8	158328301	0.996000	0.38824	0.014000	0.15608	0.017000	0.09413	3.295000	0.51794	0.463000	0.27118	0.334000	0.21626	GTC		0.567	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		59	135	0	0	0	0.01441	0	59	135				
ASTN1	460	broad.mit.edu	37	1	176857323	176857323	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:176857323G>T	ENST00000367654.3	-	18	3193	c.2982C>A	c.(2980-2982)acC>acA	p.T994T	ASTN1_ENST00000424564.2_Silent_p.T986T|ASTN1_ENST00000361833.2_Silent_p.T986T|ASTN1_ENST00000367657.3_Silent_p.T986T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	994				T -> I (in Ref. 2; BAG58151). {ECO:0000305}.	locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T986T(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGAGCTCATGGTAGCCTCCT	0.537																																							uc001glc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2956-2958)ACC>ACA		astrotactin isoform 1							93.0	82.0	86.0					1																	176857323		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857323G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2982C>A	1.37:g.176857323G>T						ASTN1_uc001glb.1_Silent_p.T986T|ASTN1_uc001gld.1_Silent_p.T986T	p.T986T	NM_004319	NP_004310	O14525	ASTN1_HUMAN			18	3170	-			994					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2958C>A																																																																																					0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		27	69	1	0	2.49675e-24	0.007291	3.85636e-24	27	69				
HSD11B1	3290	broad.mit.edu	37	1	209878375	209878376	+	Splice_Site	DNP	GG	GG	TT			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:209878375_209878376GG>TT	ENST00000367028.2	+	2	257	c.88_88GG>TT	c.(88-90)GGga>TTgga	p.G30L	HSD11B1_ENST00000367027.3_Splice_Site_p.G30L|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site_p.G30L	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	30					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	ATTCAGACCAGGTAAGTACCCA	0.45																																							uc001hhj.2		NA																	2	Unknown(2)		lung(2)	breast(1)	1						c.e2+1		11-beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)																																			SO:0001630	splice_region_variant	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding	g.chr1:209878375_209878376GG>TT	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	Exception_encountered	1.37:g.209878375_209878376delinsTT						HSD11B1_uc001hhk.2_Splice_Site_p.E30_splice	p.E30_splice	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	2	195	+								B2R9Z1|D3DT89	Splice_Site	DNP	ENST00000367028.2	37	c.88_splice	CCDS1489.1																																																																																				0.450	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525	Missense_Mutation	28	79	0	0	0	0.004672	0	28	79				
USH2A	7399	broad.mit.edu	37	1	216074227	216074227	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:216074227G>A	ENST00000307340.3	-	39	7707	c.7321C>T	c.(7321-7323)Ccc>Tcc	p.P2441S	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.P2441S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2441	Fibronectin type-III 11. {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)	p.P2441S(2)		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)		GAAAGCCTGGGAGGCAGCACG	0.493										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7321-7323)CCC>TCC		usherin isoform B							96.0	95.0	95.0					1																	216074227		2203	4300	6503	SO:0001583	missense	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.chr1:216074227G>A	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.7321C>T	1.37:g.216074227G>A	ENSP00000305941:p.Pro2441Ser	HNSCC(13;0.011)					p.P2441S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	39	7708	-			2441			Extracellular (Potential).|Fibronectin type-III 11.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7321C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038189	0.93630	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58060	0.36;0.36	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000423	T	0.74688	0.3749	M	0.81341	2.54	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.68138	-0.5488	10	0.21014	T	0.42	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	2441	O75445	USH2A_HUMAN	S	2441	ENSP00000305941:P2441S;ENSP00000355910:P2441S	ENSP00000305941:P2441S	P	-	1	0	USH2A	214140850	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.562000	0.82300	2.861000	0.98227	0.655000	0.94253	CCC		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	38	0	0	0	0.006122	0	19	38				
FMN2	56776	broad.mit.edu	37	1	240371207	240371207	+	Missense_Mutation	SNP	C	C	T	rs71297737		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:240371207C>T	ENST00000319653.9	+	5	3325	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1032	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1175L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATACCCCCTCCGCCCCCA	0.731																																							uc010pyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3094-3096)CCT>CTT		formin 2							3.0	4.0	4.0					1																	240371207		1581	3286	4867	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371207C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3095C>T	1.37:g.240371207C>T	ENSP00000318884:p.Pro1032Leu					FMN2_uc010pye.1_Missense_Mutation_p.P1036L	p.P1032L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3320	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1032			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3095C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382775	0.25031	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.13	2.16	0.27623	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.109682	0.39544	N	0.001323	T	0.77123	0.4084	M	0.88310	2.945	0.80722	D	1	D	0.63046	0.992	P	0.60345	0.873	T	0.79349	-0.1840	9	.	.	.	.	11.1443	0.48422	0.1862:0.8138:0.0:0.0	.	1032	Q9NZ56	FMN2_HUMAN	L	1032	ENSP00000318884:P1032L	.	P	+	2	0	FMN2	238437830	0.980000	0.34600	0.001000	0.08648	0.016000	0.09150	2.576000	0.46033	0.607000	0.29982	0.479000	0.44913	CCT		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	20	0	0	0	0.009096	0	3	20				
CDK1	983	broad.mit.edu	37	10	62544479	62544479	+	Silent	SNP	G	G	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr10:62544479G>C	ENST00000395284.3	+	3	196	c.54G>C	c.(52-54)gtG>gtC	p.V18V	CDK1_ENST00000316629.4_Silent_p.V18V|CDK1_ENST00000373809.2_Silent_p.V18V|CDK1_ENST00000448257.2_Silent_p.V18V	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	18	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.V18V(2)		ovary(1)	1						ATGGAGTTGTGTATAAGGGTA	0.383																																							uc001jld.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(52-54)GTG>GTC		cell division cycle 2 isoform 1							100.0	101.0	101.0					10																	62544479		2203	4300	6503	SO:0001819	synonymous_variant	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62544479G>C	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.54G>C	10.37:g.62544479G>C						CDK1_uc010qii.1_Silent_p.V18V|CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Silent_p.V18V|CDK1_uc001jlg.2_Silent_p.V18V	p.V18V	NM_001786	NP_001777	P06493	CDK1_HUMAN			3	188	+			18			ATP (By similarity).|Protein kinase.		A8K7C4|C9J497|O60764	Silent	SNP	ENST00000395284.3	37	c.54G>C	CCDS44408.1																																																																																				0.383	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		37	68	0	0	0	0.015359	0	37	68				
OR51A4	401666	broad.mit.edu	37	11	4967760	4967760	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:4967760A>T	ENST00000380373.2	-	1	596	c.571T>A	c.(571-573)Tgt>Agt	p.C191S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C191S(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTCAGAACAGGCCAACTTC	0.408																																							uc010qys.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(571-573)TGT>AGT		olfactory receptor, family 51, subfamily A,							65.0	63.0	63.0					11																	4967760		2198	4285	6483	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967760A>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.571T>A	11.37:g.4967760A>T	ENSP00000369731:p.Cys191Ser						p.C191S	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	571	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	191			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380373.2	37	c.571T>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922149	0.52653	.	.	ENSG00000205497	ENST00000380373	T	0.47528	0.84	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73961	0.3654	M	0.94021	3.485	0.34972	D	0.753279	D	0.89917	1.0	D	0.97110	1.0	D	0.84488	0.0609	9	0.87932	D	0	.	11.2274	0.48892	1.0:0.0:0.0:0.0	.	191	Q8NGJ6	O51A4_HUMAN	S	191	ENSP00000369731:C191S	ENSP00000369731:C191S	C	-	1	0	OR51A4	4924336	0.977000	0.34250	0.756000	0.31282	0.693000	0.40251	4.232000	0.58645	1.571000	0.49722	0.392000	0.25879	TGT		0.408	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		14	51	0	0	0	0.008871	0	14	51				
OR52J3	119679	broad.mit.edu	37	11	5068314	5068314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:5068314G>A	ENST00000380370.1	+	1	559	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A187T(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGGCATTGCAAAATTGTC	0.428																																							uc010qyv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(559-561)GCA>ACA		olfactory receptor, family 52, subfamily J,							222.0	196.0	205.0					11																	5068314		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068314G>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.559G>A	11.37:g.5068314G>A	ENSP00000369728:p.Ala187Thr						p.A187T	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	559	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	187			Extracellular (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.559G>A	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032995	0.54790	.	.	ENSG00000205495	ENST00000380370	T	0.00099	8.73	4.19	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000267	T	0.00412	0.0013	M	0.83384	2.64	0.09310	N	1	D	0.63046	0.992	P	0.61477	0.889	T	0.39881	-0.9592	10	0.87932	D	0	.	12.8172	0.57671	0.0:0.1643:0.8357:0.0	.	187	Q8NH60	O52J3_HUMAN	T	187	ENSP00000369728:A187T	ENSP00000369728:A187T	A	+	1	0	OR52J3	5024890	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	0.270000	0.18607	2.143000	0.66587	0.655000	0.94253	GCA		0.428	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		17	56	0	0	0	0.004007	0	17	56				
TRIM22	10346	broad.mit.edu	37	11	5730700	5730700	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:5730700C>T	ENST00000379965.3	+	8	1596	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P440L(2)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GCTGTGCCTCCCTGTCGTATT	0.438																																					GBM(104;491 2336 5222)	GBM(104;491 2336 5222)	uc001mbr.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1318-1320)CCC>CTC		tripartite motif-containing 22							102.0	109.0	107.0					11																	5730700		2201	4297	6498	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730700C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1319C>T	11.37:g.5730700C>T	ENSP00000369299:p.Pro440Leu					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.P436L|TRIM22_uc010qzm.1_Missense_Mutation_p.P268L|TRIM22_uc009yeu.2_Missense_Mutation_p.P251L|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	p.P440L	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1596	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	440			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1319C>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406829	0.62399	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.70986	-0.53	3.88	0.709	0.18150	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.75686	0.3883	L	0.51853	1.615	0.21325	N	0.999723	D;D;P	0.89917	1.0;0.963;0.735	D;P;P	0.91635	0.999;0.779;0.622	T	0.61695	-0.7010	9	0.56958	D	0.05	.	5.4564	0.16592	0.1589:0.6485:0.0:0.1926	.	362;436;440	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	L	440;251;362	ENSP00000369299:P440L	ENSP00000369299:P440L	P	+	2	0	TRIM22	5687276	0.342000	0.24809	0.004000	0.12327	0.343000	0.28985	2.111000	0.41883	0.034000	0.15491	0.467000	0.42956	CCC		0.438	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		68	136	0	0	0	0.01441	0	68	136				
DNHD1	144132	broad.mit.edu	37	11	6588836	6588836	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:6588836G>A	ENST00000527990.2	+	34	12097	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	DNHD1_ENST00000254579.6_Missense_Mutation_p.E4033K			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4033					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.E4033K(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCAGGGCCTGAGCCACTCAG	0.642																																							uc001mdw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(12097-12099)GAG>AAG		dynein heavy chain domain 1 isoform 1							28.0	32.0	31.0					11																	6588836		2077	4210	6287	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588836G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12097G>A	11.37:g.6588836G>A	ENSP00000436180:p.Glu4033Lys					DNHD1_uc001mea.3_Missense_Mutation_p.E302K|DNHD1_uc001meb.2_Missense_Mutation_p.E301K|DNHD1_uc001mec.2_Missense_Mutation_p.E301K|DNHD1_uc010rao.1_Missense_Mutation_p.E291K|DNHD1_uc009yfg.2_5'Flank	p.E4033K	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12661	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4033					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.12097G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	5.228	0.227604	0.09916	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08193	3.12;3.12	4.85	0.553	0.17235	Dynein heavy chain (1);	0.823011	0.10893	N	0.622433	T	0.07098	0.0180	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.25772	0.134;0.017;0.013;0.134	B;B;B;B	0.28709	0.067;0.014;0.009;0.093	T	0.45659	-0.9246	10	0.08599	T	0.76	-0.5644	6.8189	0.23847	0.2594:0.1359:0.6047:0.0	.	3121;301;86;4033	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	K	4033;4033;301;301	ENSP00000254579:E4033K;ENSP00000436180:E4033K	ENSP00000254579:E4033K	E	+	1	0	DNHD1	6545412	0.000000	0.05858	0.024000	0.17045	0.983000	0.72400	0.231000	0.17872	0.247000	0.21414	0.561000	0.74099	GAG		0.642	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		19	34	0	0	0	0.008871	0	19	34				
CTNND1	1500	broad.mit.edu	37	11	57569381	57569381	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:57569381G>T	ENST00000399050.4	+	7	1669	c.1133G>T	c.(1132-1134)cGc>cTc	p.R378L	CTNND1_ENST00000361796.4_Missense_Mutation_p.R378L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R277L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R378L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R378L|CTNND1_ENST00000524630.1_Missense_Mutation_p.R378L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R324L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R277L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R277L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R277L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R324L|CTNND1_ENST00000533667.1_Missense_Mutation_p.R55L|CTNND1_ENST00000526357.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532245.1_Missense_Mutation_p.R277L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R378L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R378L|CTNND1_ENST00000428599.2_Missense_Mutation_p.R378L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R277L|CTNND1_ENST00000531014.1_Missense_Mutation_p.R55L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526772.1_Missense_Mutation_p.R55L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R277L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R378L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R277L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R324L|CTNND1_ENST00000361391.6_Missense_Mutation_p.R378L|CTNND1_ENST00000361332.4_Missense_Mutation_p.R378L|CTNND1_ENST00000525902.1_Missense_Mutation_p.R55L|CTNND1_ENST00000527467.1_Missense_Mutation_p.R55L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	378					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.R378L(4)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTGGATTCCGCTTGGATGCT	0.542																																							uc001nmc.3		NA																	4	Substitution - Missense(4)		lung(4)	breast(4)|ovary(1)|kidney(1)	6						c.(1132-1134)CGC>CTC		catenin, delta 1 isoform 1ABC							97.0	97.0	97.0					11																	57569381		2048	4209	6257	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569381G>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1133G>T	11.37:g.57569381G>T	ENSP00000382004:p.Arg378Leu					CTNND1_uc001nlh.1_Missense_Mutation_p.R378L|CTNND1_uc001nlu.3_Missense_Mutation_p.R277L|CTNND1_uc001nlt.3_Missense_Mutation_p.R277L|CTNND1_uc001nls.3_Missense_Mutation_p.R277L|CTNND1_uc001nlw.3_Missense_Mutation_p.R277L|CTNND1_uc001nmf.3_Missense_Mutation_p.R378L|CTNND1_uc001nmd.3_Missense_Mutation_p.R324L|CTNND1_uc001nlk.3_Missense_Mutation_p.R324L|CTNND1_uc001nme.3_Missense_Mutation_p.R378L|CTNND1_uc001nll.3_Missense_Mutation_p.R324L|CTNND1_uc001nmg.3_Missense_Mutation_p.R324L|CTNND1_uc001nlj.3_Missense_Mutation_p.R324L|CTNND1_uc001nlr.3_Missense_Mutation_p.R324L|CTNND1_uc001nlp.3_Missense_Mutation_p.R324L|CTNND1_uc001nlx.3_Missense_Mutation_p.R55L|CTNND1_uc001nlz.3_Missense_Mutation_p.R55L|CTNND1_uc009ymn.2_Missense_Mutation_p.R55L|CTNND1_uc001nlm.3_Missense_Mutation_p.R378L|CTNND1_uc001nly.3_Missense_Mutation_p.R55L|CTNND1_uc001nmb.3_Missense_Mutation_p.R55L|CTNND1_uc001nma.3_Missense_Mutation_p.R55L|CTNND1_uc001nmi.3_Missense_Mutation_p.R277L|CTNND1_uc001nmh.3_Missense_Mutation_p.R378L|CTNND1_uc001nlq.3_Missense_Mutation_p.R277L|CTNND1_uc001nln.3_Missense_Mutation_p.R378L|CTNND1_uc001nli.3_Missense_Mutation_p.R378L|CTNND1_uc001nlo.3_Missense_Mutation_p.R277L|CTNND1_uc001nlv.3_Missense_Mutation_p.R277L	p.R378L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			7	1704	+		all_epithelial(135;0.155)	378			ARM 1.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1133G>T	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371433	0.82573	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.79;0.79;0.79;0.69;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.080862	0.64402	D	0.000003	T	0.59932	0.2230	L	0.48642	1.525	0.48135	D	0.999596	D;D;D;D;D;D;D;D;D	0.64830	0.994;0.99;0.983;0.99;0.99;0.99;0.971;0.994;0.99	D;P;P;P;P;P;P;D;P	0.65140	0.932;0.839;0.694;0.839;0.839;0.839;0.822;0.932;0.856	T	0.57929	-0.7726	10	0.46703	T	0.11	-5.4698	14.763	0.69619	0.0:0.1443:0.8557:0.0	.	378;378;378;277;324;324;378;378;378	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	L	378;378;378;55;378;378;324;277;378;378;378;277;277;378;277;55;324;324;324;378;55;277;55;55;324;55;324;324;277;277;277;324;378	ENSP00000436543:R378L;ENSP00000434808:R378L;ENSP00000381996:R378L;ENSP00000435242:R55L;ENSP00000353902:R378L;ENSP00000354907:R378L;ENSP00000436323:R324L;ENSP00000409930:R277L;ENSP00000382004:R378L;ENSP00000354785:R378L;ENSP00000354823:R378L;ENSP00000432075:R277L;ENSP00000437156:R277L;ENSP00000351527:R378L;ENSP00000434949:R277L;ENSP00000437051:R55L;ENSP00000435379:R324L;ENSP00000432243:R324L;ENSP00000436744:R324L;ENSP00000413586:R378L;ENSP00000434900:R55L;ENSP00000435266:R277L;ENSP00000432623:R55L;ENSP00000433158:R55L;ENSP00000435494:R324L;ENSP00000434672:R55L;ENSP00000433276:R324L;ENSP00000433334:R324L;ENSP00000437327:R277L;ENSP00000403518:R277L;ENSP00000434017:R277L;ENSP00000435789:R324L;ENSP00000432041:R378L	ENSP00000351527:R378L	R	+	2	0	CTNND1	57325957	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	4.282000	0.58971	2.618000	0.88619	0.557000	0.71058	CGC		0.542	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		41	121	1	0	2.35958e-20	0.009718	3.4726e-20	41	121				
OR9Q2	219957	broad.mit.edu	37	11	57958720	57958720	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:57958720G>A	ENST00000311591.3	+	1	815	c.758G>A	c.(757-759)gGc>gAc	p.G253D		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G253D(2)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCTTTGGCACCCTCATC	0.577																																							uc010rka.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(757-759)GGC>GAC		olfactory receptor, family 9, subfamily Q,							126.0	108.0	114.0					11																	57958720		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958720G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.758G>A	11.37:g.57958720G>A	ENSP00000308714:p.Gly253Asp						p.G253D	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	758	+		Breast(21;0.0589)	253			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.758G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058156	0.76074	.	.	ENSG00000186513	ENST00000311591	T	0.39229	1.09	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000245	T	0.78773	0.4336	H	0.98936	4.375	0.38796	D	0.955088	D	0.71674	0.998	D	0.67382	0.951	D	0.88258	0.2921	10	0.87932	D	0	-17.5366	18.0179	0.89247	0.0:0.0:1.0:0.0	.	253	Q8NGE9	OR9Q2_HUMAN	D	253	ENSP00000308714:G253D	ENSP00000308714:G253D	G	+	2	0	OR9Q2	57715296	0.607000	0.26958	0.993000	0.49108	0.968000	0.65278	1.753000	0.38359	2.795000	0.96236	0.655000	0.94253	GGC		0.577	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		59	102	0	0	0	0.01441	0	59	102				
GLYATL1	92292	broad.mit.edu	37	11	58711127	58711127	+	5'UTR	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:58711127C>A	ENST00000317391.4	+	0	286				RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.L46M	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.L46M(2)|p.L46L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ctcagagtggctgaggataat	0.488																																							uc001nnf.2		NA																	3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(-56--52)GGCTG>GGATG		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						70.0	64.0	66.0					11																	58711127		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58711127C>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-55C>A	11.37:g.58711127C>A						uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.L46M|GLYATL1_uc001nni.1_Translation_Start_Site|GLYATL1_uc001nnj.1_Translation_Start_Site				Q969I3	GLYL1_HUMAN			3	322	+								A6NDT0|Q7Z510|Q8NAW8	Translation_Start_Site	SNP	ENST00000317391.4	37	c.-54C>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	3.097	-0.185601	0.06340	.	.	ENSG00000166840	ENST00000526351;ENST00000300079	T;T	0.56941	0.43;1.77	0.113	0.113	0.14631	.	.	.	.	.	T	0.45895	0.1365	N	0.08118	0	0.09310	N	0.999999	D	0.62365	0.991	D	0.65323	0.934	T	0.36625	-0.9740	8	0.87932	D	0	.	.	.	.	.	46	Q969I3-2	.	M	38;46	ENSP00000434652:L38M;ENSP00000300079:L46M	ENSP00000300079:L46M	L	+	1	2	GLYATL1	58467703	0.004000	0.15560	0.026000	0.17262	0.026000	0.11368	0.212000	0.17497	0.183000	0.20059	0.186000	0.17326	CTG		0.488	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		18	28	1	0	2.4624e-09	0.008871	3.09785e-09	18	28				
INPPL1	3636	broad.mit.edu	37	11	71946219	71946219	+	Silent	SNP	C	C	T	rs371376566		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:71946219C>T	ENST00000298229.2	+	22	2679	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	INPPL1_ENST00000538751.1_Silent_p.V583V|INPPL1_ENST00000541756.1_Silent_p.V583V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	825					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.V825V(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCTCACAGTCAAGTCCATGG	0.557																																							uc001osf.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(2473-2475)GTC>GTT		inositol polyphosphate phosphatase-like 1		C		0,4400		0,0,2200	84.0	77.0	80.0		2475	3.4	1.0	11		80	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	INPPL1	NM_001567.3		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		825/1259	71946219	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71946219C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2475C>T	11.37:g.71946219C>T						INPPL1_uc001osg.2_Silent_p.V583V	p.V825V	NM_001567	NP_001558	O15357	SHIP2_HUMAN			22	2622	+			825					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.2475C>T	CCDS8213.1																																																																																				0.557	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		56	97	0	0	0	0.01441	0	56	97				
ANKRD42	338699	broad.mit.edu	37	11	82917155	82917155	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:82917155G>T	ENST00000393392.2	+	3	356	c.194G>T	c.(193-195)gGt>gTt	p.G65V	ANKRD42_ENST00000526731.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000393389.3_Missense_Mutation_p.G93V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G93V|ANKRD42_ENST00000528722.1_5'UTR|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G93V	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	65					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.G65V(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAACGAGAGGTTGGACAGCA	0.378																																							uc001ozz.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(193-195)GGT>GTT		ankyrin repeat domain 42							150.0	143.0	145.0					11																	82917155		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82917155G>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.194G>T	11.37:g.82917155G>T	ENSP00000377051:p.Gly65Val					ANKRD42_uc009yvi.1_Missense_Mutation_p.G93V|ANKRD42_uc010rsv.1_Missense_Mutation_p.G93V|ANKRD42_uc001paa.2_Missense_Mutation_p.G93V|ANKRD42_uc001pab.1_Missense_Mutation_p.G93V	p.G65V	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN			3	616	+			65			ANK 2.		Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.194G>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275095	0.80580	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.64085	-0.08;1.72;-0.08;1.72;1.72;1.72	5.73	5.73	0.89815	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.86871	0.6037	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.99;0.96;0.997;0.995;0.951	D	0.90789	0.4685	9	.	.	.	-9.752	18.6876	0.91571	0.0:0.0:1.0:0.0	.	93;93;358;184;65	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	V	412;93;93;93;93;65;93	ENSP00000377049:G93V;ENSP00000260047:G93V;ENSP00000433585:G93V;ENSP00000434666:G93V;ENSP00000377051:G65V;ENSP00000435790:G93V	.	G	+	2	0	ANKRD42	82594803	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	4.880000	0.63107	2.710000	0.92621	0.650000	0.86243	GGT		0.378	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		22	53	1	0	2.98393e-07	0.016522	3.60848e-07	22	53				
MMP1	4312	broad.mit.edu	37	11	102667829	102667829	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:102667829G>T	ENST00000315274.6	-	3	482	c.415C>A	c.(415-417)Caa>Aaa	p.Q139K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	139	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q139K(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CTCCAGAGTTGGAAGGCTTTC	0.423																																							uc001phi.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|lung(1)	4						c.(415-417)CAA>AAA		matrix metalloproteinase 1 isoform 1							136.0	130.0	132.0					11																	102667829		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102667829G>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.415C>A	11.37:g.102667829G>T	ENSP00000322788:p.Gln139Lys					uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.Q73K	p.Q139K	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	3	558	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	139			Metalloprotease.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.415C>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	4.693	0.128802	0.08981	.	.	ENSG00000196611	ENST00000315274	T	0.21543	2.0	5.87	0.0231	0.14135	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.635159	0.15633	N	0.252266	T	0.09555	0.0235	N	0.13198	0.31	0.28846	N	0.896303	B	0.11235	0.004	B	0.16722	0.016	T	0.39742	-0.9599	10	0.02654	T	1	.	10.6864	0.45846	0.0:0.2902:0.3:0.4099	.	139	P03956	MMP1_HUMAN	K	139	ENSP00000322788:Q139K	ENSP00000322788:Q139K	Q	-	1	0	MMP1	102173039	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-1.422000	0.02453	0.102000	0.17638	0.655000	0.94253	CAA		0.423	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		50	80	1	0	1.08114e-33	0.01441	1.721e-33	50	80				
ZBTB16	7704	broad.mit.edu	37	11	114113048	114113048	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:114113048G>T	ENST00000335953.4	+	5	1993	c.1613G>T	c.(1612-1614)cGc>cTc	p.R538L	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R538L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	538					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R538L(2)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCCACCTGCGCTCACATACA	0.602																																							uc001pop.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1612-1614)CGC>CTC		promyelocytic leukemia zinc finger protein							42.0	34.0	37.0					11																	114113048		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114113048G>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1613G>T	11.37:g.114113048G>T	ENSP00000338157:p.Arg538Leu					ZBTB16_uc001poq.2_Missense_Mutation_p.R538L	p.R538L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1877	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	538			C2H2-type 5.		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1613G>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414805	0.96092	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.25085	1.82;1.82	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.059734	0.64402	D	0.000002	T	0.41743	0.1172	L	0.54965	1.715	0.80722	D	1	P	0.50710	0.938	P	0.52710	0.707	T	0.09400	-1.0676	10	0.56958	D	0.05	-19.0781	20.0965	0.97849	0.0:0.0:1.0:0.0	.	538	Q05516	ZBT16_HUMAN	L	538;538;415	ENSP00000338157:R538L;ENSP00000376721:R538L	ENSP00000309507:R415L	R	+	2	0	ZBTB16	113618258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.725000	0.98778	2.824000	0.97209	0.655000	0.94253	CGC		0.602	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		15	53	1	0	1.9806e-07	0.014323	2.41385e-07	15	53				
MFRP	83552	broad.mit.edu	37	11	119217000	119217000	+	Missense_Mutation	SNP	C	C	T	rs143802236	byFrequency	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:119217000C>T	ENST00000530681.1	-	2	283	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	MFRP_ENST00000449574.2_Missense_Mutation_p.V47I|MFRP_ENST00000529147.1_Intron|MFRP_ENST00000360167.4_Missense_Mutation_p.V47I|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.V47I	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	47					embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V47I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GGAGCTGGGACGCTGTAGCTG	0.617																																							uc001pwj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GTC>ATC		membrane frizzled-related protein		C	,ILE/VAL	1,4397	2.1+/-5.4	0,1,2198	35.0	37.0	36.0		,139	-9.4	0.0	11	dbSNP_134	36	1,8589	1.2+/-3.3	0,1,4294	no	utr-5,missense	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,29	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	,benign	,47/580	119217000	2,12986	2199	4295	6494	SO:0001583	missense	83552					collagen		g.chr11:119217000C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.139G>A	11.37:g.119217000C>T	ENSP00000456533:p.Val47Ile					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.V47I	p.V47I	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	2	299	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.139G>A	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	6.656	0.489578	0.12641	2.27E-4	1.16E-4	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.67523	-0.27;-0.27;1.86	4.69	-9.38	0.00623	.	2.981020	0.00582	N	0.000337	T	0.36717	0.0977	N	0.04508	-0.205	0.09310	N	1	B;B	0.15719	0.014;0.001	B;B	0.04013	0.001;0.0	T	0.24333	-1.0163	10	0.36615	T	0.2	0.0532	4.6193	0.12442	0.0876:0.398:0.2928:0.2216	.	47;47	B4DHN8;Q9BY79	.;MFRP_HUMAN	I	47	ENSP00000450509:V47I;ENSP00000391664:V47I;ENSP00000353291:V47I	ENSP00000353291:V47I	V	-	1	0	MFRP	118722210	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.265000	0.00263	-1.845000	0.01176	-0.290000	0.09829	GTC		0.617	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		12	34	0	0	0	0.013537	0	12	34				
TECTA	7007	broad.mit.edu	37	11	120989078	120989078	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:120989078G>T	ENST00000392793.1	+	7	1125	c.854G>T	c.(853-855)tGt>tTt	p.C285F	TECTA_ENST00000264037.2_Missense_Mutation_p.C285F			O75443	TECTA_HUMAN	tectorin alpha	285	VWFC.				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)		p.C285F(2)	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)		AAGTGCCGCTGTCTGGATTTC	0.512																																							uc010rzo.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(6)|ovary(2)|skin(2)	10						c.(853-855)TGT>TTT		tectorin alpha precursor							87.0	84.0	85.0					11																	120989078		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989078G>T	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.854G>T	11.37:g.120989078G>T	ENSP00000376543:p.Cys285Phe						p.C285F	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	854	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	285			VWFC.			Missense_Mutation	SNP	ENST00000392793.1	37	c.854G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733296	0.89482	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.99474	-5.97;-5.97	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98512	1.0619	10	0.87932	D	0	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	285	O75443	TECTA_HUMAN	F	285	ENSP00000376543:C285F;ENSP00000264037:C285F	ENSP00000264037:C285F	C	+	2	0	TECTA	120494288	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.827000	0.99397	2.668000	0.90789	0.563000	0.77884	TGT		0.512	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		54	78	1	0	3.21867e-24	0.01441	4.92268e-24	54	78				
GRAMD1B	57476	broad.mit.edu	37	11	123489404	123489404	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:123489404G>T	ENST00000529750.1	+	18	2232	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	GRAMD1B_ENST00000456860.2_Silent_p.L642L|GRAMD1B_ENST00000450171.2_Silent_p.L322L|GRAMD1B_ENST00000322282.7_Silent_p.L635L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	635						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L635L(4)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCCTAGTCTGGTGCTGCTGG	0.547																																							uc001pyx.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1903-1905)CTG>CTT		GRAM domain containing 1B							47.0	49.0	48.0					11																	123489404		2039	4198	6237	SO:0001819	synonymous_variant	57476					integral to membrane		g.chr11:123489404G>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1905G>T	11.37:g.123489404G>T						GRAMD1B_uc001pyw.2_Silent_p.L642L|GRAMD1B_uc010rzw.1_Silent_p.L591L|GRAMD1B_uc010rzx.1_Silent_p.L595L|GRAMD1B_uc001pyy.2_Silent_p.L322L	p.L635L	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	18	2234	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	635			Helical; (Potential).		Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	c.1905G>T	CCDS53720.1																																																																																				0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		3	1	1	0	0.004672	0.004672	0.00495804	3	1				
CACNA1C	775	broad.mit.edu	37	12	2797654	2797654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:2797654C>A	ENST00000347598.4	+	48	5970	c.5970C>A	c.(5968-5970)agC>agA	p.S1990R	CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1977R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1942R|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1959R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1967R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1970R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1948R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1942R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1962R|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1977R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1983R|CACNA1C_ENST00000399655.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1961R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2025					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S1477R(2)|p.S2055R(2)|p.S1990R(2)|p.S1983R(2)|p.S1977R(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAGAGAAGCCATTCCCCTG	0.652																																							uc009zdu.1		NA																	10	Substitution - Missense(10)		lung(10)	ovary(10)|central_nervous_system(1)	11						c.(6073-6075)AGC>AGA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						41.0	50.0	47.0					12																	2797654		1981	4151	6132	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797654C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5970C>A	12.37:g.2797654C>A	ENSP00000266376:p.Ser1990Arg					CACNA1C_uc009zdv.1_Missense_Mutation_p.S1939R|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkc.2_Missense_Mutation_p.S1961R|CACNA1C_uc001qke.2_Missense_Mutation_p.S1931R|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1950R|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1961R|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1948R|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1983R|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1950R|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1990R|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qko.2_Missense_Mutation_p.S1962R|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1959R|CACNA1C_uc001qku.2_Missense_Mutation_p.S1977R|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1970R|CACNA1C_uc001qks.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1961R|CACNA1C_uc001qki.1_Missense_Mutation_p.S1749R|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1713R|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1678R|CACNA1C_uc001qkm.1_Missense_Mutation_p.S1738R|CACNA1C_uc010sea.1_Missense_Mutation_p.S633R|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.S260R	p.S2025R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	49	6388	+			2025			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6075C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589359	0.46214	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.97	4.07	0.47477	.	0.631337	0.16251	N	0.222703	T	0.52451	0.1735	L	0.43757	1.38	0.35593	D	0.8072	B;D;D;B;D;D;P;D;B;D;D;P;D;D;D;D;D;D;D;B;P;D;D;D;D	0.89917	0.349;0.999;0.998;0.005;0.999;0.999;0.649;0.999;0.109;0.96;1.0;0.592;0.999;0.999;0.996;0.998;0.999;1.0;0.999;0.011;0.649;0.999;1.0;0.999;0.998	B;D;D;B;D;D;B;D;B;P;D;B;D;D;D;D;D;D;D;B;B;D;D;D;D	0.85130	0.068;0.995;0.988;0.009;0.995;0.997;0.406;0.997;0.061;0.656;0.997;0.33;0.994;0.997;0.974;0.993;0.994;0.996;0.995;0.03;0.184;0.997;0.997;0.994;0.988	T	0.55373	-0.8151	10	0.32370	T	0.25	.	10.0864	0.42421	0.0:0.8444:0.0:0.1556	.	633;1983;1939;2025;1977;1961;1942;1959;1970;1942;1962;1942;1973;1990;1942;1977;2013;1950;1948;1950;1931;1961;1961;1942;1942	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	1967;1942;1942;1970;1942;1961;1961;1950;1942;1990;1962;1942;1983;1959;1977;1948;1961;1942;2013;1977;2013;1950;1843	ENSP00000336982:S1967R;ENSP00000382563:S1942R;ENSP00000382552:S1942R;ENSP00000382547:S1970R;ENSP00000382506:S1942R;ENSP00000382530:S1961R;ENSP00000382546:S1961R;ENSP00000382500:S1950R;ENSP00000382549:S1942R;ENSP00000266376:S1990R;ENSP00000382515:S1962R;ENSP00000382510:S1942R;ENSP00000341092:S1983R;ENSP00000382537:S1959R;ENSP00000329877:S1977R;ENSP00000382557:S1948R;ENSP00000385724:S1961R;ENSP00000382512:S1942R;ENSP00000382542:S2013R;ENSP00000382526:S1977R;ENSP00000385896:S2013R;ENSP00000382504:S1950R	ENSP00000323129:S1843R	S	+	3	2	CACNA1C	2667915	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.779000	0.47734	2.311000	0.77944	0.462000	0.41574	AGC		0.652	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		41	85	1	0	1.49673e-21	0.00623	2.2669e-21	41	85				
KLRC2	3822	broad.mit.edu	37	12	10584778	10584778	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:10584778A>G	ENST00000381902.2	-	5	517	c.511T>C	c.(511-513)Tca>Cca	p.S171P	NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.S112P|KLRC2_ENST00000381901.1_Missense_Mutation_p.S171P	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	171	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S171P(2)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CCAATCCATGAGGAAGGTAAA	0.299																																							uc001qyk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(511-513)TCA>CCA		killer cell lectin-like receptor subfamily C,							39.0	37.0	38.0					12																	10584778		2049	4130	6179	SO:0001583	missense	3822				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10584778A>G	X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"""Killer cell lectin-like receptors"", ""CD molecules"""	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.511T>C	12.37:g.10584778A>G	ENSP00000371327:p.Ser171Pro					KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Missense_Mutation_p.S171P	p.S171P	NM_002260	NP_002251	P26717	NKG2C_HUMAN			5	518	-			171			Extracellular (Potential).|C-type lectin.		O43802|Q52M74|Q9NR42	Missense_Mutation	SNP	ENST00000381902.2	37	c.511T>C	CCDS31745.1	.	.	.	.	.	.	.	.	.	.	a	11.49	1.653854	0.29425	.	.	ENSG00000205809	ENST00000381902;ENST00000381901;ENST00000396433;ENST00000536833	T;T;T	0.11495	2.77;2.77;2.77	2.38	0.953	0.19590	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.288034	0.19013	N	0.125009	T	0.26955	0.0660	M	0.85945	2.785	0.22185	N	0.999305	D;D	0.61080	0.989;0.985	P;D	0.64144	0.841;0.922	T	0.02691	-1.1123	10	0.87932	D	0	.	4.6742	0.12703	0.665:0.335:0.0:0.0	.	157;171	Q3KQS7;P26717	.;NKG2C_HUMAN	P	171;171;64;112	ENSP00000371327:S171P;ENSP00000371326:S171P;ENSP00000444754:S112P	ENSP00000371326:S171P	S	-	1	0	KLRC2	10476045	0.517000	0.26226	0.085000	0.20634	0.011000	0.07611	0.670000	0.25157	1.048000	0.40298	0.397000	0.26171	TCA		0.299	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1	NM_002260		12	26	0	0	0	0.016723	0	12	26				
KIAA1467	57613	broad.mit.edu	37	12	13229033	13229033	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:13229033T>A	ENST00000197268.8	+	11	1718	c.1598T>A	c.(1597-1599)cTt>cAt	p.L533H		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	533						integral component of membrane (GO:0016021)		p.L533H(2)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCTCCATCCTTCTGGATCTG	0.552																																							uc001rbi.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(1)	3						c.(1597-1599)CTT>CAT		hypothetical protein LOC57613							174.0	130.0	145.0					12																	13229033		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13229033T>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1598T>A	12.37:g.13229033T>A	ENSP00000197268:p.Leu533His					KIAA1467_uc009zhx.1_RNA	p.L533H	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	11	1621	+		Prostate(47;0.184)	533					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.1598T>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558268	0.86231	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	M	0.64997	1.995	0.53688	D	0.99997	D	0.89917	1.0	D	0.87578	0.998	T	0.79120	-0.1934	9	0.87932	D	0	-1.9091	14.5212	0.67851	0.0:0.0:0.0:1.0	.	533	A2RU67	K1467_HUMAN	H	533;309	.	ENSP00000197268:L533H	L	+	2	0	KIAA1467	13120300	1.000000	0.71417	0.925000	0.36789	0.978000	0.69477	5.093000	0.64517	2.167000	0.68274	0.460000	0.39030	CTT		0.552	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		58	96	0	0	0	0.01441	0	58	96				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	18	1	0	0.00448238	0.004482	0.00478939	7	18				
OR6C65	403282	broad.mit.edu	37	12	55794443	55794443	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:55794443T>A	ENST00000379665.2	+	1	230	c.131T>A	c.(130-132)aTt>aAt	p.I44N		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I44N(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGATCATCATTATGTTAACA	0.308																																							uc010spl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(130-132)ATT>AAT		olfactory receptor, family 6, subfamily C,							61.0	56.0	58.0					12																	55794443		2203	4295	6498	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794443T>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.131T>A	12.37:g.55794443T>A	ENSP00000368986:p.Ile44Asn						p.I44N	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	131	+			44			Helical; Name=1; (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.131T>A	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951746	0.53186	.	.	ENSG00000205328	ENST00000379665	T	0.00644	6.01	3.93	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.215655	0.22125	U	0.064267	T	0.05731	0.0150	H	0.96576	3.845	0.28374	N	0.919868	D	0.89917	1.0	D	0.75484	0.986	T	0.04752	-1.0929	10	0.87932	D	0	.	10.0804	0.42386	0.0:0.0:0.1681:0.8319	.	44	A6NJZ3	O6C65_HUMAN	N	44	ENSP00000368986:I44N	ENSP00000368986:I44N	I	+	2	0	OR6C65	54080710	0.904000	0.30761	0.349000	0.25694	0.011000	0.07611	5.040000	0.64191	1.774000	0.52232	0.409000	0.27619	ATT		0.308	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			11	25	0	0	0	0.008291	0	11	25				
NAV3	89795	broad.mit.edu	37	12	78542638	78542638	+	Missense_Mutation	SNP	G	G	T	rs200507786		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:78542638G>T	ENST00000397909.2	+	22	4897	c.4724G>T	c.(4723-4725)cGg>cTg	p.R1575L	NAV3_ENST00000536525.2_Missense_Mutation_p.R1575L|NAV3_ENST00000228327.6_Missense_Mutation_p.R1575L|NAV3_ENST00000266692.7_Missense_Mutation_p.R1398L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1575L(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAAACTGCGGAGAGAGCTG	0.333										HNSCC(70;0.22)																													uc001syp.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4723-4725)CGG>CTG		neuron navigator 3							75.0	72.0	73.0					12																	78542638		1843	4094	5937	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78542638G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4724G>T	12.37:g.78542638G>T	ENSP00000381007:p.Arg1575Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R1575L|NAV3_uc010sub.1_Missense_Mutation_p.R1061L|NAV3_uc009zsf.2_Missense_Mutation_p.R406L	p.R1575L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			22	4897	+			1575			Potential.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4724G>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.4	4.524068	0.85600	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	5.42	5.42	0.78866	.	0.000000	0.36778	U	0.002418	D	0.97145	0.9067	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.996	D;D;D;D	0.91635	0.999;0.969;0.998;0.992	D	0.97610	1.0129	10	0.87932	D	0	-14.3427	18.84	0.92180	0.0:0.0:1.0:0.0	.	1575;1398;1575;1575	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1575;1575;1575;1398;196;204	ENSP00000446132:R1575L;ENSP00000381007:R1575L;ENSP00000228327:R1575L;ENSP00000266692:R1398L;ENSP00000448303:R204L	ENSP00000228327:R1575L	R	+	2	0	NAV3	77066769	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.070000	0.89493	2.559000	0.86315	0.650000	0.86243	CGG		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	11	1	0	0.000602214	0.014758	0.000652399	3	11				
TMTC2	160335	broad.mit.edu	37	12	83251161	83251161	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:83251161G>T	ENST00000321196.3	+	2	1163	c.456G>T	c.(454-456)ttG>ttT	p.L152F	TMTC2_ENST00000549919.1_Missense_Mutation_p.L146F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L152F	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	152					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L152F(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCTCTCCTTGCTCTGCTACA	0.557																																							uc001szt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(454-456)TTG>TTT		transmembrane and tetratricopeptide repeat							118.0	94.0	102.0					12																	83251161		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251161G>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.456G>T	12.37:g.83251161G>T	ENSP00000322300:p.Leu152Phe					TMTC2_uc001szr.1_Missense_Mutation_p.L152F|TMTC2_uc001szs.1_Missense_Mutation_p.L152F|TMTC2_uc010suk.1_Intron	p.L152F	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	888	+			152			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.456G>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762390	0.31228	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.60797	0.84;0.16;0.76	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	T	0.42154	0.1190	L	0.28192	0.835	0.80722	D	1	B;B	0.26845	0.026;0.161	B;B	0.35688	0.208;0.174	T	0.27468	-1.0073	10	0.02654	T	1	-12.2962	9.7124	0.40254	0.0752:0.1421:0.7826:0.0	.	152;152	Q8N394;F8VSH2	TMTC2_HUMAN;.	F	152;152;146	ENSP00000322300:L152F;ENSP00000448292:L152F;ENSP00000447609:L146F	ENSP00000322300:L152F	L	+	3	2	TMTC2	81775292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.970000	0.40520	2.788000	0.95919	0.650000	0.86243	TTG		0.557	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		21	46	1	0	4.7796e-09	0.004656	5.96495e-09	21	46				
SPATA13	221178	broad.mit.edu	37	13	24860373	24860373	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr13:24860373G>T	ENST00000382095.4	+	5	855	c.448G>T	c.(448-450)Gtc>Ttc	p.V150F	SPATA13_ENST00000424834.2_Missense_Mutation_p.V775F|SPATA13_ENST00000409126.1_Missense_Mutation_p.V72F|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.V653F|SPATA13_ENST00000382108.3_Missense_Mutation_p.V775F|SPATA13_ENST00000343003.6_Missense_Mutation_p.V94F|SPATA13_ENST00000399949.2_Missense_Mutation_p.V72F	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	150	ABR (APC-binding region) domain.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.V150F(2)|p.V775F(2)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCAACGTGGTCTGCGCAGA	0.582																																							uc001upg.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|ovary(1)	3						c.(448-450)GTC>TTC		spermatogenesis associated 13							127.0	116.0	120.0					13																	24860373		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860373G>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.448G>T	13.37:g.24860373G>T	ENSP00000371527:p.Val150Phe					SPATA13_uc001upd.1_Missense_Mutation_p.V775F|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.V96F|SPATA13_uc010tcz.1_Missense_Mutation_p.V96F|SPATA13_uc010tda.1_Missense_Mutation_p.V94F|SPATA13_uc001uph.2_Missense_Mutation_p.V72F|SPATA13_uc010tdb.1_Missense_Mutation_p.V72F|SPATA13_uc009zzz.1_5'Flank	p.V150F	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	5	855	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	150			SH3.|ABR (APC-binding region) domain.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.448G>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.794669|4.794669	0.90453|0.90453	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	T|D;D;D;D;D;D;D	0.60040|0.81996	0.22|-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Src homology-3 domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87672|0.87672	0.6236|0.6236	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.998;1.0;0.998;0.999;0.998	.|D;D;D;D;D;D	.|0.85130	.|0.994;0.979;0.997;0.979;0.986;0.969	D|D	0.89042|0.89042	0.3449|0.3449	6|10	.|0.87932	.|D	.|0	.|.	17.8523|17.8523	0.88751|0.88751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|72;94;96;96;72;150	.|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.|.;.;.;.;.;SPT13_HUMAN	V|F	812|775;150;110;96;72;72;94;94	ENSP00000398560:G812V|ENSP00000371542:V775F;ENSP00000371527:V150F;ENSP00000401605:V110F;ENSP00000382830:V72F;ENSP00000386471:V72F;ENSP00000343631:V94F;ENSP00000397498:V94F	.|ENSP00000343631:V94F	G|V	+|+	2|1	0|0	SPATA13|SPATA13	23758373|23758373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	9.471000|9.471000	0.97696|0.97696	2.462000|2.462000	0.83206|0.83206	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.582	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		173	263	1	0	4.26038e-92	0.01441	7.14644e-92	173	263				
RNY4P30	100862673	broad.mit.edu	37	13	50466435	50466435	+	RNA	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr13:50466435C>T	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		CACCAGATTACCAGTGAAAGA	0.562																																							uc001vdk.2		NA																	0					0						c.(1708-1710)ACC>ATC		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																						220429							g.chr13:50466435C>T			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50466435C>T							p.T570I	NR_003268						1	1891	+									Missense_Mutation	SNP	ENST00000410216.1	37	c.1709C>T																																																																																					0.562	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA				6	64	0	0	0	0.001168	0	6	64				
ATP7B	540	broad.mit.edu	37	13	52534313	52534313	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr13:52534313T>C	ENST00000242839.4	-	7	2248	c.2092A>G	c.(2092-2094)Atc>Gtc	p.I698V	ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.I698V|ATP7B_ENST00000418097.2_Missense_Mutation_p.I698V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.I587V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	698					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.I698V(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATAAAGAAGATGAGATTTAGA	0.478									Wilson disease																														uc001vfw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2092-2094)ATC>GTC		ATPase, Cu++ transporting, beta polypeptide							95.0	95.0	95.0					13																	52534313		1973	4157	6130	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52534313T>C	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2092A>G	13.37:g.52534313T>C	ENSP00000242839:p.Ile698Val					ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Missense_Mutation_p.I587V|ATP7B_uc010tgt.1_Missense_Mutation_p.I698V|ATP7B_uc010tgu.1_Missense_Mutation_p.I698V|ATP7B_uc010tgv.1_Missense_Mutation_p.I698V|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_Intron|ATP7B_uc010tgw.1_Intron	p.I698V	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	7	2249	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	698			Helical; (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2092A>G	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452987	0.26161	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000448424;ENST00000418097	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.38	-4.81	0.03180	.	0.502222	0.24091	N	0.041632	T	0.66356	0.2781	N	0.10664	0.02	0.34184	D	0.671256	B;B;B;B;B	0.19706	0.001;0.0;0.038;0.037;0.0	B;B;B;B;B	0.27076	0.002;0.001;0.076;0.017;0.001	T	0.49523	-0.8931	10	0.25751	T	0.34	-8.8547	11.7649	0.51924	0.0:0.5765:0.146:0.2775	.	698;698;698;587;698	E7ET55;B7ZLR4;F5H748;P35670-3;P35670	.;.;.;.;ATP7B_HUMAN	V	698;587;698;698	ENSP00000242839:I698V;ENSP00000383217:I587V;ENSP00000416738:I698V;ENSP00000393343:I698V	ENSP00000242839:I698V	I	-	1	0	ATP7B	51432314	0.983000	0.35010	0.398000	0.26321	0.989000	0.77384	0.264000	0.18497	-0.850000	0.04152	0.460000	0.39030	ATC		0.478	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		25	73	0	0	0	0.004656	0	25	73				
FCF1	51077	broad.mit.edu	37	14	75182766	75182766	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr14:75182766T>G	ENST00000341162.4	+	4	310	c.256T>G	c.(256-258)Tta>Gta	p.L86V	FCF1_ENST00000553615.1_Missense_Mutation_p.L71V|FCF1_ENST00000534938.2_Missense_Mutation_p.L74V|AREL1_ENST00000557401.1_5'Flank|AREL1_ENST00000356357.4_5'Flank|AC007956.1_ENST00000338772.5_5'Flank	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	86	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L86V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CAAACTGGACTTAGTGCAGTC	0.358																																							uc001xqh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(256-258)TTA>GTA		FCF1 small subunit							119.0	114.0	116.0					14																	75182766		2203	4300	6503	SO:0001583	missense	51077				rRNA processing	nucleolus		g.chr14:75182766T>G	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.256T>G	14.37:g.75182766T>G	ENSP00000344393:p.Leu86Val					KIAA0317_uc001xqb.2_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqc.2_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqf.1_Missense_Mutation_p.L71V|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA	p.L86V	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	4	307	+			86			PINc.		Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	c.256T>G	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.860910	0.32884	.	.	ENSG00000119616	ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.44	3.11	0.35812	Nucleotide binding protein, PINc (1);	0.118784	0.56097	D	0.000040	T	0.42063	0.1186	L	0.31752	0.955	0.46499	D	0.999076	B;B	0.10296	0.001;0.003	B;B	0.21708	0.007;0.036	T	0.15809	-1.0424	9	0.33141	T	0.24	.	7.608	0.28113	0.0:0.3788:0.0:0.6212	.	86;71	Q9Y324;G3V5S9	FCF1_HUMAN;.	V	86;74;71	.	ENSP00000344393:L86V	L	+	1	2	FCF1	74252519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.827000	0.27421	0.509000	0.28195	0.533000	0.62120	TTA		0.358	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		108	62	0	0	0	0.01441	0	108	62				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	RNA	SNP	G	G	T	rs368651947		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:22709152G>T	ENST00000314246.8	-	0	1244				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGCCTGGAGCGCTCCTGCCAC	0.607																																							uc010axw.2		NA																	0					0						c.(346-348)GCG>GAG		golgi autoantigen, golgin subfamily a, 8E																																						100132979							g.chr15:22709152G>T			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709152G>T						GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|uc010tzw.1_5'Flank	p.A116E	NM_001012423	NP_001012423					11	1245	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.347C>A		.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005164	0.02112	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-0.534	0.11883	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.22629	N	0.99892	B	0.06786	0.001	B	0.08055	0.003	T	0.39461	-0.9613	6	0.02654	T	1	.	4.9893	0.14205	0.0:0.0:0.3107:0.6893	.	116	F8WBT8	.	E	116;116;334	.	ENSP00000327024:A116E	A	-	2	0	AC116165.1	20260516	0.948000	0.32251	0.006000	0.13384	0.011000	0.07611	0.915000	0.28638	-0.149000	0.11215	-1.606000	0.00808	GCG		0.607	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		6	112	1	0	0.00116845	0.001168	0.00125709	6	112				
RP11-483E23.2	0	broad.mit.edu	37	15	28600154	28600154	+	RNA	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:28600154T>A	ENST00000568624.1	-	0	342																											CTTCTGTTCCTATAGAAAGAG	0.557																																							uc010uaf.1		NA																	0					NA						c.e3-1		SubName: Full=Putative uncharacterized protein ENSP00000383535; Flags: Fragment;																																						0							g.chr15:28600154T>A																													15.37:g.28600154T>A							p.E60_splice							3	196	-									Splice_Site	SNP	ENST00000568624.1	37	c.178_splice		.	.	.	.	.	.	.	.	.	.	.	6.079	0.382792	0.11524	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	AC091304.2	26273749	0.576000	0.26700	0.284000	0.24805	0.289000	0.27227	1.033000	0.30191	0.138000	0.18790	0.136000	0.15936	.		0.557	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			11	56	0	0	0	0.020292	0	11	56				
THSD4	79875	broad.mit.edu	37	15	72037537	72037537	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:72037537G>A	ENST00000355327.3	+	12	2133	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.E307K|THSD4_ENST00000261862.6_Missense_Mutation_p.E667K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	667					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.E667K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCGACCCCCGAGGAGGAGCC	0.547																																							uc002atb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1999-2001)GAG>AAG		thrombospondin, type I, domain containing 4							168.0	173.0	171.0					15																	72037537		1950	4146	6096	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72037537G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1999G>A	15.37:g.72037537G>A	ENSP00000347484:p.Glu667Lys					THSD4_uc002ate.2_Missense_Mutation_p.E307K	p.E667K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			11	2078	+			667					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1999G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576680	0.65878	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.63580	-0.05;-0.05;-0.05	5.05	5.05	0.67936	.	.	.	.	.	T	0.69566	0.3125	L	0.53671	1.685	0.40695	D	0.982439	D;D	0.76494	0.989;0.999	P;P	0.60609	0.713;0.877	T	0.63976	-0.6515	9	0.11794	T	0.64	.	15.9389	0.79739	0.0:0.0:1.0:0.0	.	307;667	B4DR13;Q6ZMP0	.;THSD4_HUMAN	K	667;667;307	ENSP00000347484:E667K;ENSP00000261862:E667K;ENSP00000350413:E307K	ENSP00000261862:E667K	E	+	1	0	THSD4	69824591	1.000000	0.71417	0.949000	0.38748	0.730000	0.41778	3.643000	0.54374	2.624000	0.88883	0.561000	0.74099	GAG		0.547	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		186	399	0	0	0	0.01441	0	186	399				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																							uc002cdi.2		NA																	10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		8	28	0	0	0	0.006214	0	8	28				
PRR35	146325	broad.mit.edu	37	16	613967	613967	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:613967C>G	ENST00000409413.3	+	2	952	c.673C>G	c.(673-675)Ccc>Gcc	p.P225A		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		225	Pro-rich.							p.P225A(1)		central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTACTTGGGGCCCTCACTGGC	0.731																																							uc002chk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(673-675)CCC>GCC		hypothetical protein LOC146325							12.0	14.0	14.0					16																	613967		1912	4097	6009	SO:0001583	missense	146325							g.chr16:613967C>G																												ENST00000409413.3:c.673C>G	16.37:g.613967C>G	ENSP00000386499:p.Pro225Ala						p.P225A	NM_145270	NP_660313	P0CG20	CP011_HUMAN			2	952	+			225			Pro-rich.		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.673C>G	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289382	0.40494	.	.	ENSG00000161992	ENST00000409413	T	0.08896	3.04	5.06	5.06	0.68205	.	0.000000	0.53938	D	0.000059	T	0.17619	0.0423	M	0.68952	2.095	0.33887	D	0.636808	P	0.45715	0.865	P	0.46585	0.521	T	0.13872	-1.0493	10	0.59425	D	0.04	.	17.4186	0.87508	0.0:1.0:0.0:0.0	.	225	P0CG20	CP011_HUMAN	A	225	ENSP00000386499:P225A	ENSP00000386499:P225A	P	+	1	0	C16orf11	553968	0.708000	0.27876	1.000000	0.80357	0.855000	0.48748	2.075000	0.41538	2.364000	0.80123	0.563000	0.77884	CCC		0.731	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			3	14	0	0	0	0.004672	0	3	14				
OR1F2P	26184	broad.mit.edu	37	16	3266457	3266457	+	RNA	SNP	G	G	A	rs369903056	byFrequency	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:3266457G>A	ENST00000576468.1	+	0	418																											GGTGACTCCCGTGATGAATCC	0.433													g|||	3	0.000599042	0.0	0.0	5008	,	,		19930	0.003		0.0	False		,,,				2504	0.0						uc010uwv.1		NA																	0					0						c.(748-750)GTG>ATG		RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2;																																						26184							g.chr16:3266457G>A																													16.37:g.3266457G>A							p.V250M	NR_002169						1	896	+									Missense_Mutation	SNP	ENST00000576468.1	37	c.748G>A																																																																																					0.433	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			5	18	0	0	0	0.00308	0	5	18				
SH2B1	25970	broad.mit.edu	37	16	28877650	28877650	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:28877650G>A	ENST00000322610.8	+	4	674	c.235G>A	c.(235-237)Gag>Aag	p.E79K	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000563674.1_Intron|RP11-22P6.2_ENST00000567731.1_RNA|SH2B1_ENST00000395532.4_Missense_Mutation_p.E79K|SH2B1_ENST00000337120.5_Missense_Mutation_p.E79K|SH2B1_ENST00000359285.5_Missense_Mutation_p.E79K|SH2B1_ENST00000545570.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	79	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for self-association.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E79K(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTTTGAAGCCGAGGTGGCCCG	0.667																																							uc002dri.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(235-237)GAG>AAG		SH2B adaptor protein 1 isoform 1							20.0	23.0	22.0					16																	28877650		2197	4299	6496	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877650G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.235G>A	16.37:g.28877650G>A	ENSP00000321221:p.Glu79Lys					uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.E79K|SH2B1_uc002drk.2_Missense_Mutation_p.E79K|SH2B1_uc002drl.2_Missense_Mutation_p.E79K|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.E79K|SH2B1_uc002drm.2_Missense_Mutation_p.E79K	p.E79K	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			4	674	+			79			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for self-association.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.235G>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.160946	0.78226	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.65178	-0.14;-0.12;-0.11;-0.11	4.59	4.59	0.56863	Phenylalanine zipper (2);	0.000000	0.64402	D	0.000002	T	0.75561	0.3866	M	0.72894	2.215	0.24562	N	0.993969	P;D;D	0.76494	0.944;0.999;0.981	B;P;P	0.61132	0.177;0.884;0.46	T	0.70702	-0.4799	10	0.87932	D	0	-25.2528	16.1888	0.81972	0.0:0.0:1.0:0.0	.	79;79;79	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	K	79	ENSP00000321221:E79K;ENSP00000352232:E79K;ENSP00000378903:E79K;ENSP00000337163:E79K	ENSP00000321221:E79K	E	+	1	0	SH2B1	28785151	1.000000	0.71417	0.934000	0.37439	0.906000	0.53458	8.856000	0.92245	2.101000	0.63845	0.450000	0.29827	GAG		0.667	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		5	49	0	0	0	0.001984	0	5	49				
LAT	27040	broad.mit.edu	37	16	28996766	28996766	+	Missense_Mutation	SNP	G	G	A	rs200070316		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:28996766G>A	ENST00000360872.5	+	1	106	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	LAT_ENST00000564277.1_Missense_Mutation_p.V10M|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000354453.4_Missense_Mutation_p.V10M|LAT_ENST00000395456.2_Missense_Mutation_p.V10M|LAT_ENST00000395461.3_Missense_Mutation_p.V46M|LAT_ENST00000454369.2_Missense_Mutation_p.V10M|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Missense_Mutation_p.V10M			O43561	LAT_HUMAN	linker for activation of T cells	10					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)	p.V10M(2)		large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				GGTCCCCTGCGTGCTGGGGCT	0.637																																							uc002dsd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(28-30)GTG>ATG		linker for activation of T cells isoform a							65.0	56.0	59.0					16																	28996766		2197	4300	6497	SO:0001583	missense	27040				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28996766G>A	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.28G>A	16.37:g.28996766G>A	ENSP00000354119:p.Val10Met					uc010vct.1_Intron|SPNS1_uc010byq.1_3'UTR|LAT_uc010vdj.1_Missense_Mutation_p.V46M|LAT_uc002dsb.2_Missense_Mutation_p.V10M|LAT_uc002dsc.2_Missense_Mutation_p.V10M|LAT_uc010vdk.1_Missense_Mutation_p.V10M|LAT_uc010vdl.1_Missense_Mutation_p.V10M	p.V10M	NM_014387	NP_055202	O43561	LAT_HUMAN			1	380	+		Hepatocellular(780;0.244)	10			Helical; Signal-anchor for type III membrane protein; (Potential).		B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	c.28G>A	CCDS10647.1	.	.	.	.	.	.	.	.	.	.	g	15.66	2.898848	0.52227	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	3.98	0.819	0.18785	.	.	.	.	.	T	0.17534	0.0421	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.28760	0.221;0.221;0.221;0.221;0.221	B;B;B;B;B	0.16289	0.015;0.015;0.015;0.015;0.015	T	0.14448	-1.0472	8	0.48119	T	0.1	-0.2614	6.9231	0.24399	0.3349:0.0:0.6651:0.0	.	10;10;46;10;10	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	M	46;10;10;10;10	.	ENSP00000346441:V10M	V	+	1	0	LAT	28904267	0.000000	0.05858	0.014000	0.15608	0.271000	0.26615	0.047000	0.14056	0.290000	0.22444	-0.355000	0.07637	GTG		0.637	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			38	95	0	0	0	0.00623	0	38	95				
TAOK2	9344	broad.mit.edu	37	16	29996668	29996668	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:29996668G>T	ENST00000308893.4	+	14	2600	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	TAOK2_ENST00000279394.3_Missense_Mutation_p.E519D|TAOK2_ENST00000543033.1_Missense_Mutation_p.E519D|TAOK2_ENST00000416441.2_Missense_Mutation_p.E346D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	519					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672																																							uc002dva.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1555-1557)GAG>GAT		TAO kinase 2 isoform 2							24.0	24.0	24.0					16																	29996668		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996668G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1557G>T	16.37:g.29996668G>T	ENSP00000310094:p.Glu519Asp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E519D|TAOK2_uc002dvc.1_Missense_Mutation_p.E519D|TAOK2_uc010bzm.1_Missense_Mutation_p.E526D|TAOK2_uc002dvd.1_Missense_Mutation_p.E346D	p.E519D	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			14	2340	+			519			Potential.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1557G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232338	0.79688	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.48836	0.8;0.8;0.8	5.51	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	M	0.66939	2.045	0.52099	D	0.999943	D;D;D;D;D	0.76494	0.994;0.999;0.998;0.997;0.992	D;D;D;D;D	0.85130	0.97;0.994;0.997;0.99;0.989	T	0.61773	-0.6994	9	.	.	.	.	10.9429	0.47283	0.1543:0.0:0.8457:0.0	.	710;346;519;519;519	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	D	519	ENSP00000310094:E519D;ENSP00000440336:E519D;ENSP00000279394:E519D	.	E	+	3	2	TAOK2	29904169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.018000	0.40991	0.701000	0.31803	0.563000	0.77884	GAG		0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		33	53	1	0	3.11337e-16	0.013726	4.4971e-16	33	53				
GLG1	2734	broad.mit.edu	37	16	74526922	74526922	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:74526922G>A	ENST00000422840.2	-	7	1166	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	GLG1_ENST00000447066.2_Silent_p.N378N|GLG1_ENST00000205061.5_Silent_p.N389N	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	389					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.N389N(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATCGCGGAAGGTTTTCCACAT	0.418																																							uc002fcy.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(1165-1167)AAC>AAT		golgi apparatus protein 1 isoform 3							128.0	112.0	118.0					16																	74526922		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74526922G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1167C>T	16.37:g.74526922G>A						GLG1_uc002fcx.2_Silent_p.N389N|GLG1_uc002fcw.3_Silent_p.N378N|GLG1_uc002fcz.3_Intron	p.N389N	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			7	1217	-			389			Cys-rich GLG1 5.|Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.1167C>T	CCDS45527.1																																																																																				0.418	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		13	144	0	0	0	0.020292	0	13	144				
MTHFSD	64779	broad.mit.edu	37	16	86565744	86565744	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:86565744C>T	ENST00000360900.6	-	8	1050	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	MTHFSD_ENST00000381214.5_Missense_Mutation_p.R342Q|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R341Q|MTHFSD_ENST00000322911.6_Missense_Mutation_p.R341Q|MTHFSD_ENST00000546093.1_Missense_Mutation_p.R179Q	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	342	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R342Q(1)|p.R341Q(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GGCTCTGCGCCGCGGGCCCTG	0.711																																							uc002fjn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1024-1026)CGG>CAG		methenyltetrahydrofolate synthetase domain							7.0	9.0	9.0					16																	86565744		1874	4073	5947	SO:0001583	missense	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86565744C>T	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.1025G>A	16.37:g.86565744C>T	ENSP00000354152:p.Arg342Gln					MTHFSD_uc010voo.1_Missense_Mutation_p.R322Q|MTHFSD_uc002fjo.2_Missense_Mutation_p.R179Q|MTHFSD_uc002fjm.2_Missense_Mutation_p.R341Q|MTHFSD_uc010vop.1_Missense_Mutation_p.R179Q|MTHFSD_uc010voq.1_Missense_Mutation_p.R341Q|MTHFSD_uc010vor.1_Missense_Mutation_p.R342Q	p.R342Q	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			8	1076	-			342			RRM.		A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.1025G>A	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099141	0.01843	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911;ENST00000546093	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.16	-3.15	0.05233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.284039	0.40640	N	0.001045	T	0.08492	0.0211	N	0.16098	0.37	0.23050	N	0.998372	B;B;B;B	0.16166	0.0;0.016;0.0;0.0	B;B;B;B	0.12837	0.003;0.008;0.001;0.001	T	0.37502	-0.9703	10	0.06099	T	0.92	-9.4179	11.4608	0.50208	0.0:0.356:0.0:0.644	.	342;341;342;341	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	Q	340;342;342;341;179	ENSP00000370612:R342Q;ENSP00000354152:R342Q;ENSP00000326777:R341Q;ENSP00000438761:R179Q	ENSP00000326777:R341Q	R	-	2	0	MTHFSD	85123245	1.000000	0.71417	0.000000	0.03702	0.183000	0.23260	1.223000	0.32527	-1.040000	0.03271	-2.387000	0.00228	CGG		0.711	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		7	17	0	0	0	0.004482	0	7	17				
ZNF287	57336	broad.mit.edu	37	17	16470691	16470691	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr17:16470691C>T	ENST00000395824.1	-	2	972	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	ZNF287_ENST00000461555.1_5'Flank|ZNF287_ENST00000395825.3_Missense_Mutation_p.E119K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	112	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)	p.E112K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTCACTGCTTCCTCGCTGCTC	0.507																																							uc002gqi.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(355-357)GAA>AAA		zinc finger protein 287							65.0	66.0	66.0					17																	16470691		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16470691C>T	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.355G>A	17.37:g.16470691C>T	ENSP00000379168:p.Glu119Lys						p.E119K	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	2	808	-			112			SCAN box.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.355G>A	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658169	0.88154	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.08370	3.1;3.1	5.06	5.06	0.68205	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.137643	0.33572	N	0.004770	T	0.23410	0.0566	M	0.88775	2.98	0.35700	D	0.815568	P	0.51240	0.943	P	0.49085	0.6	T	0.33675	-0.9859	10	0.56958	D	0.05	.	14.1447	0.65344	0.0:1.0:0.0:0.0	.	112	Q9HBT7	ZN287_HUMAN	K	119	ENSP00000379169:E119K;ENSP00000379168:E119K	ENSP00000379168:E119K	E	-	1	0	ZNF287	16411416	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	1.525000	0.35953	2.795000	0.96236	0.655000	0.94253	GAA		0.507	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			48	44	0	0	0	0.01441	0	48	44				
GSDMB	55876	broad.mit.edu	37	17	38066035	38066035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr17:38066035G>A	ENST00000394179.1	-	4	680	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	GSDMB_ENST00000360317.3_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000309481.7_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000418519.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000394175.2_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000520542.1_Nonsense_Mutation_p.Q184*			Q8TAX9	GSDMB_HUMAN	gasdermin B	184						cytoplasm (GO:0005737)		p.Q184*(4)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AGATGGCCCTGAGAGATCTGG	0.532																																							uc010cwj.2		NA																	4	Substitution - Nonsense(4)		lung(4)	breast(1)|pancreas(1)	2						c.(550-552)CAG>TAG		gasdermin B isoform 1							104.0	101.0	102.0					17																	38066035		2203	4300	6503	SO:0001587	stop_gained	55876					cytoplasm		g.chr17:38066035G>A	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.550C>T	17.37:g.38066035G>A	ENSP00000377733:p.Gln184*					GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Nonsense_Mutation_p.Q184*|GSDMB_uc002hth.2_Nonsense_Mutation_p.Q184*|GSDMB_uc010wem.1_Nonsense_Mutation_p.Q184*	p.Q184*	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN			3	555	-			184					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Nonsense_Mutation	SNP	ENST00000394179.1	37	c.550C>T		.	.	.	.	.	.	.	.	.	.	G	8.587	0.883653	0.17467	.	.	ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.	.	.	1.22	-0.0353	0.13893	.	0.794882	0.10184	N	0.705514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.7799	0.13197	0.0:0.4017:0.5983:0.0	.	.	.	.	X	184	.	ENSP00000312584:Q184X	Q	-	1	0	GSDMB	35319561	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	-2.071000	0.01378	0.012000	0.14892	0.609000	0.83330	CAG		0.532	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		63	143	0	0	0	0.01441	0	63	143				
KIF2B	84643	broad.mit.edu	37	17	51902309	51902309	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr17:51902309G>T	ENST00000268919.4	+	1	2071	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	639					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A639S(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTTTGCATTGCCCGGTCTTT	0.448																																							uc002iua.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)	8						c.(1915-1917)GCC>TCC		kinesin family member 2B							157.0	144.0	148.0					17																	51902309		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902309G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1915G>T	17.37:g.51902309G>T	ENSP00000268919:p.Ala639Ser					uc010wna.1_RNA	p.A639S	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	2071	+			639					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1915G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	1.651	-0.513856	0.04200	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74737	-0.87	5.65	2.56	0.30785	.	0.000000	0.44688	D	0.000437	T	0.54062	0.1835	L	0.27053	0.805	0.26653	N	0.972057	B	0.29162	0.235	B	0.29077	0.098	T	0.35500	-0.9786	10	0.14656	T	0.56	.	5.2849	0.15696	0.2229:0.0:0.6339:0.1433	.	639	Q8N4N8	KIF2B_HUMAN	S	639;527	ENSP00000268919:A639S	ENSP00000268919:A639S	A	+	1	0	KIF2B	49257308	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	1.800000	0.38833	0.408000	0.25621	0.655000	0.94253	GCC		0.448	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		32	79	1	0	1.39806e-14	0.008361	1.96483e-14	32	79				
PTPRM	5797	broad.mit.edu	37	18	7926632	7926632	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:7926632A>G	ENST00000332175.8	+	5	1651	c.614A>G	c.(613-615)cAg>cGg	p.Q205R	PTPRM_ENST00000400060.4_Missense_Mutation_p.Q205R|PTPRM_ENST00000400053.4_Missense_Mutation_p.Q143R|PTPRM_ENST00000580170.1_Missense_Mutation_p.Q205R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	205	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q205R(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTACCTTCCAGTGCAGTGCC	0.463																																							uc002knn.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(613-615)CAG>CGG		protein tyrosine phosphatase, receptor type, M							94.0	88.0	90.0					18																	7926632		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7926632A>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.614A>G	18.37:g.7926632A>G	ENSP00000331418:p.Gln205Arg					PTPRM_uc010dkv.2_Missense_Mutation_p.Q205R	p.Q205R	NM_002845	NP_002836	P28827	PTPRM_HUMAN			5	1117	+		Colorectal(10;0.234)	205			Ig-like C2-type.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.614A>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762643	0.49574	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.19669	2.13;2.13;2.13	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.115643	0.64402	D	0.000011	T	0.23094	0.0558	M	0.61703	1.905	0.80722	D	1	B;B	0.30914	0.3;0.3	B;B	0.28232	0.087;0.087	T	0.03095	-1.1073	10	0.52906	T	0.07	.	11.4336	0.50056	0.8651:0.0:0.0:0.1349	.	205;205	A7MBN1;P28827	.;PTPRM_HUMAN	R	205;205;143	ENSP00000331418:Q205R;ENSP00000382933:Q205R;ENSP00000382927:Q143R	ENSP00000331418:Q205R	Q	+	2	0	PTPRM	7916632	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.141000	0.71744	2.103000	0.63969	0.460000	0.39030	CAG		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			36	75	0	0	0	0.01441	0	36	75				
ASXL3	80816	broad.mit.edu	37	18	31323885	31323885	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:31323885T>C	ENST00000269197.5	+	12	4073	c.4073T>C	c.(4072-4074)gTc>gCc	p.V1358A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1358A(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTAGCTCTGTCTTGATTCCC	0.473											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010dmg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4072-4074)GTC>GCC		additional sex combs like 3							135.0	136.0	136.0					18																	31323885		1939	4139	6078	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323885T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4073T>C	18.37:g.31323885T>C	ENSP00000269197:p.Val1358Ala		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.V1065A	p.V1358A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4128	+			1358					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4073T>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.612572	0.66672	.	.	ENSG00000141431	ENST00000269197	T	0.19532	2.14	6.03	6.03	0.97812	.	.	.	.	.	T	0.16085	0.0387	L	0.27053	0.805	0.34144	D	0.666725	P	0.46395	0.877	B	0.37480	0.251	T	0.17048	-1.0382	9	0.33940	T	0.23	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1358	Q9C0F0	ASXL3_HUMAN	A	1358	ENSP00000269197:V1358A	ENSP00000269197:V1358A	V	+	2	0	ASXL3	29577883	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.505000	0.66981	2.308000	0.77769	0.533000	0.62120	GTC		0.473	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			142	319	0	0	0	0.01441	0	142	319				
NOL4	8715	broad.mit.edu	37	18	31523045	31523045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:31523045C>A	ENST00000261592.5	-	9	1823	c.1526G>T	c.(1525-1527)cGt>cTt	p.R509L	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R290L|NOL4_ENST00000535384.1_Missense_Mutation_p.R224L|NOL4_ENST00000538587.1_Missense_Mutation_p.R435L|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443																																							uc010dmi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1525-1527)CGT>CTT		nucleolar protein 4							106.0	94.0	98.0					18																	31523045		2203	4299	6502	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31523045C>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1526G>T	18.37:g.31523045C>A	ENSP00000261592:p.Arg509Leu					NOL4_uc010xbs.1_Missense_Mutation_p.R224L|NOL4_uc002kxr.3_Missense_Mutation_p.R281L|NOL4_uc010xbt.1_Missense_Mutation_p.R435L|NOL4_uc010dmh.2_Missense_Mutation_p.R371L|NOL4_uc010xbu.1_Missense_Mutation_p.R445L|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.R194L	p.R509L	NM_003787	NP_003778	O94818	NOL4_HUMAN			9	1755	-			509					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1526G>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579840	0.86645	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.79545	0.4464	M	0.68317	2.08	0.54753	D	0.999984	D;D;D;D;D;P	0.89917	0.996;1.0;1.0;0.999;1.0;0.747	D;D;D;D;D;P	0.91635	0.992;0.999;0.999;0.991;0.999;0.462	T	0.79490	-0.1782	9	0.66056	D	0.02	-8.6841	20.2049	0.98273	0.0:1.0:0.0:0.0	.	194;224;435;509;224;290	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	L	509;194;224;290;435	.	ENSP00000261592:R509L	R	-	2	0	NOL4	29777043	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	6.830000	0.75319	2.772000	0.95346	0.650000	0.86243	CGT		0.443	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		17	30	1	0	5.3912e-06	0.006122	6.22984e-06	17	30				
SETBP1	26040	broad.mit.edu	37	18	42532619	42532619	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:42532619G>T	ENST00000282030.5	+	4	3610	c.3314G>T	c.(3313-3315)gGt>gTt	p.G1105V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1105						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1105V(2)|p.G1051V(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGATGTCCGGTGCAGCTAAG	0.547									Schinzel-Giedion syndrome																														uc010dni.2		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3313-3315)GGT>GTT		SET binding protein 1 isoform a							118.0	98.0	105.0					18																	42532619		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532619G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3314G>T	18.37:g.42532619G>T	ENSP00000282030:p.Gly1105Val						p.G1105V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3610	+			1105					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3314G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	7.460	0.644492	0.14451	.	.	ENSG00000152217	ENST00000282030	T	0.68181	-0.31	5.88	5.88	0.94601	.	0.165235	0.50627	D	0.000101	T	0.43188	0.1236	N	0.08118	0	0.27300	N	0.957594	B	0.27416	0.178	B	0.25140	0.058	T	0.29243	-1.0018	10	0.26408	T	0.33	.	9.275	0.37694	0.076:0.258:0.666:0.0	.	1105	Q9Y6X0	SETBP_HUMAN	V	1105	ENSP00000282030:G1105V	ENSP00000282030:G1105V	G	+	2	0	SETBP1	40786617	1.000000	0.71417	0.746000	0.31095	0.971000	0.66376	3.554000	0.53720	2.797000	0.96272	0.561000	0.74099	GGT		0.547	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		59	137	1	0	7.50695e-29	0.01441	1.18291e-28	59	137				
CDH20	28316	broad.mit.edu	37	18	59157904	59157904	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:59157904C>A	ENST00000262717.4	+	2	516	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	CDH20_ENST00000536675.2_Missense_Mutation_p.Q40K|CDH20_ENST00000538374.1_Missense_Mutation_p.Q40K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	40					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q40K(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCCAACACCACAAGGTGAATT	0.512																																							uc010dps.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)	5						c.(118-120)CAA>AAA		cadherin 20, type 2 preproprotein							118.0	107.0	111.0					18																	59157904		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59157904C>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.118C>A	18.37:g.59157904C>A	ENSP00000262717:p.Gln40Lys					CDH20_uc002lif.2_Missense_Mutation_p.Q34K	p.Q40K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			1	130	+		Colorectal(73;0.186)	40					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.118C>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	0.482	-0.879431	0.02550	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.55052	0.54;0.54;0.54	4.84	2.96	0.34315	.	1.606840	0.03420	N	0.206104	T	0.34600	0.0903	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	10	0.16896	T	0.51	.	9.7737	0.40605	0.154:0.6874:0.1586:0.0	.	40	Q9HBT6	CAD20_HUMAN	K	40	ENSP00000444767:Q40K;ENSP00000442226:Q40K;ENSP00000262717:Q40K	ENSP00000262717:Q40K	Q	+	1	0	CDH20	57308884	0.031000	0.19500	0.000000	0.03702	0.367000	0.29736	3.096000	0.50243	0.507000	0.28148	0.563000	0.77884	CAA		0.512	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		13	110	1	0	0.00010058	0.013537	0.00011128	13	110				
ANKRD24	170961	broad.mit.edu	37	19	4216959	4216959	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:4216959C>A	ENST00000600132.1	+	18	2078	c.1802C>A	c.(1801-1803)cCc>cAc	p.P601H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.P601H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P691H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	601								p.P691H(1)|p.P467H(1)|p.P601H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GAAACAAAACCCACAGGGGCT	0.567																																							uc010dtt.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1801-1803)CCC>CAC		ankyrin repeat domain 24							37.0	44.0	41.0					19																	4216959		2042	4188	6230	SO:0001583	missense	170961							g.chr19:4216959C>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1802C>A	19.37:g.4216959C>A	ENSP00000471252:p.Pro601His					ANKRD24_uc002lzs.2_Missense_Mutation_p.P572H|ANKRD24_uc002lzt.2_Missense_Mutation_p.P573H	p.P601H	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2078	+			601					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.1802C>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	11.84	1.759775	0.31137	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.31769	1.48;1.48	3.34	2.3	0.28687	.	1.958810	0.03286	N	0.186945	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.79;0.924	B;B	0.41764	0.201;0.366	T	0.27872	-1.0061	10	0.44086	T	0.13	-0.2734	8.7217	0.34445	0.0:0.881:0.0:0.119	.	601;691	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	601;691	ENSP00000321731:P601H;ENSP00000262970:P691H	ENSP00000262970:P691H	P	+	2	0	ANKRD24	4167959	0.000000	0.05858	0.001000	0.08648	0.329000	0.28539	-3.713000	0.00386	0.976000	0.38417	0.205000	0.17691	CCC		0.567	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		20	23	1	0	1.56452e-12	0.007413	2.10402e-12	20	23				
STAP2	55620	broad.mit.edu	37	19	4327149	4327149	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:4327149C>A	ENST00000594605.1	-	8	858	c.735G>T	c.(733-735)ctG>ctT	p.L245L	STAP2_ENST00000600324.1_Silent_p.L245L|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	245	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L245L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCTAACAGGAATGGCA	0.647																																							uc002mab.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(733-735)CTG>CTT		signal transducing adaptor family member 2							80.0	74.0	76.0					19																	4327149		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4327149C>A	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.735G>T	19.37:g.4327149C>A						STAP2_uc002mac.2_Silent_p.L245L|STAP2_uc002mad.2_Silent_p.L138L	p.L245L	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	8	832	-		Hepatocellular(1079;0.137)	245			SH2.		A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.735G>T	CCDS45926.1																																																																																				0.647	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		26	86	1	0	9.04412e-07	0.004656	1.06885e-06	26	86				
EMR3	84658	broad.mit.edu	37	19	14758015	14758015	+	Missense_Mutation	SNP	G	G	A	rs192735238		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:14758015G>A	ENST00000253673.5	-	8	960	c.860C>T	c.(859-861)aCg>aTg	p.T287M	EMR3_ENST00000344373.4_Missense_Mutation_p.T235M|EMR3_ENST00000443157.2_Missense_Mutation_p.T161M|EMR3_ENST00000599900.1_Missense_Mutation_p.T72M	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	287					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAAAGTCAGCGTCACAGACTT	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18691	0.0		0.0	False		,,,				2504	0.0						uc002mzi.3		NA																	0				ovary(5)|skin(1)	6						c.(859-861)ACG>ATG		egf-like module-containing mucin-like receptor							260.0	218.0	232.0					19																	14758015		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14758015G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.860C>T	19.37:g.14758015G>A	ENSP00000253673:p.Thr287Met					EMR3_uc010dzp.2_Missense_Mutation_p.T235M|EMR3_uc010xnv.1_Missense_Mutation_p.T161M	p.T287M	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			8	1008	-			287			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.860C>T	CCDS12315.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.85	1.468209	0.26335	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.59224	0.87;0.28;0.96	3.94	-7.88	0.01178	.	.	.	.	.	T	0.51890	0.1701	L	0.40543	1.245	0.09310	N	1	D;D;P	0.71674	0.986;0.998;0.642	P;D;B	0.64321	0.908;0.924;0.155	T	0.46555	-0.9183	9	0.33141	T	0.24	.	1.2817	0.02042	0.2454:0.118:0.4011:0.2355	.	161;235;287	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	M	161;287;235	ENSP00000396208:T161M;ENSP00000253673:T287M;ENSP00000340758:T235M	ENSP00000253673:T287M	T	-	2	0	EMR3	14619015	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.334000	0.07883	-1.785000	0.01271	-1.948000	0.00487	ACG		0.483	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		16	479	0	0	0	0.004007	0	16	479				
CYP4F3	4051	broad.mit.edu	37	19	15758117	15758117	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:15758117A>T	ENST00000221307.8	+	5	555	c.508A>T	c.(508-510)Agt>Tgt	p.S170C	CYP4F3_ENST00000586182.2_Missense_Mutation_p.S170C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.S170C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	170					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.S170C(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTTCAATGAGAGTGTGAACAT	0.502																																							uc002nbj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(508-510)AGT>TGT		cytochrome P450, family 4, subfamily F,							117.0	123.0	121.0					19																	15758117		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15758117A>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.508A>T	19.37:g.15758117A>T	ENSP00000221307:p.Ser170Cys					CYP4F3_uc010xok.1_Missense_Mutation_p.S170C|CYP4F3_uc010xol.1_Missense_Mutation_p.S170C|CYP4F3_uc010xom.1_Missense_Mutation_p.S21C|CYP4F3_uc002nbk.2_Missense_Mutation_p.S170C|CYP4F3_uc010xon.1_5'Flank	p.S170C	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			5	558	+			170					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.508A>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.580956	0.46006	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.69806	-0.43	3.4	-2.0	0.07433	.	0.402668	0.21352	U	0.075942	T	0.52208	0.1720	L	0.52905	1.665	0.09310	N	1	B;B	0.23854	0.092;0.092	B;B	0.29785	0.107;0.107	T	0.36720	-0.9736	10	0.30078	T	0.28	.	2.8764	0.05632	0.4638:0.0:0.2181:0.3181	.	170;170	B7Z8Z3;Q08477	.;CP4F3_HUMAN	C	97;170	ENSP00000221307:S170C	ENSP00000221307:S170C	S	+	1	0	CYP4F3	15619117	0.575000	0.26692	0.000000	0.03702	0.907000	0.53573	1.569000	0.36428	-0.052000	0.13311	0.358000	0.22013	AGT		0.502	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		77	146	0	0	0	0.01441	0	77	146				
CYP4F12	66002	broad.mit.edu	37	19	15789113	15789113	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:15789113T>A	ENST00000550308.1	+	3	621	c.241T>A	c.(241-243)Tcg>Acg	p.S81T	CYP4F12_ENST00000324632.10_Missense_Mutation_p.S81T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	81					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.S81T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GACCCAGATGTCGGCCACCTA	0.512																																							uc002nbl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(241-243)TCG>ACG		cytochrome P450, family 4, subfamily F,							141.0	142.0	142.0					19																	15789113		2160	4269	6429	SO:0001583	missense	66002							g.chr19:15789113T>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.241T>A	19.37:g.15789113T>A	ENSP00000448998:p.Ser81Thr					CYP4F12_uc010xoo.1_Missense_Mutation_p.S81T|CYP4F12_uc010xop.1_Missense_Mutation_p.S81T	p.S81T	NM_023944	NP_076433					3	302	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.241T>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	8.407	0.843392	0.16963	.	.	ENSG00000186204	ENST00000550308;ENST00000551607;ENST00000324632	D;D;D	0.87887	-2.31;-2.31;-2.31	2.92	1.85	0.25348	.	0.382752	0.19741	U	0.107138	T	0.73048	0.3537	N	0.16201	0.385	0.09310	N	1	B;B;B	0.27594	0.182;0.03;0.001	B;B;B	0.28232	0.087;0.063;0.026	T	0.60419	-0.7267	10	0.30078	T	0.28	.	6.9615	0.24599	0.0:0.0:0.7072:0.2928	.	81;81;81	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	T	81;34;81	ENSP00000448998:S81T;ENSP00000447922:S34T;ENSP00000321821:S81T	ENSP00000321821:S81T	S	+	1	0	CYP4F12	15650113	0.004000	0.15560	0.012000	0.15200	0.001000	0.01503	0.638000	0.24674	0.516000	0.28340	-0.619000	0.04042	TCG		0.512	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			50	188	0	0	0	0.01441	0	50	188				
ZNF43	7594	broad.mit.edu	37	19	21991490	21991491	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:21991490_21991491CC>AA	ENST00000354959.4	-	4	1517_1518	c.1348_1349GG>TT	c.(1348-1350)GGa>TTa	p.G450L	ZNF43_ENST00000595461.1_Missense_Mutation_p.G444L|ZNF43_ENST00000598381.1_Missense_Mutation_p.G444L|ZNF43_ENST00000594012.1_Missense_Mutation_p.G444L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	450					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)	p.G450L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAATT	0.381																																							uc002nqj.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1348-1350)GGA>TTA		zinc finger protein 43																																				SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991490_21991491CC>AA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1348_1349delinsAA	19.37:g.21991490_21991491delinsAA	ENSP00000347045:p.Gly450Leu					ZNF43_uc010ecv.2_Missense_Mutation_p.G444L|ZNF43_uc002nql.2_Missense_Mutation_p.G444L|ZNF43_uc002nqm.2_Missense_Mutation_p.G444L|ZNF43_uc002nqk.2_Missense_Mutation_p.G380L	p.G450L	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1478_1479	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	450					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	DNP	ENST00000354959.4	37	c.1348_1349GG>TT	CCDS12413.2																																																																																				0.381	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		20	36	0	0	0	0.004672	0	20	36				
MED29	55588	broad.mit.edu	37	19	39879075	39879075	+	5'Flank	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:39879075C>A	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_Missense_Mutation_p.W264L|PAF1_ENST00000221265.3_Missense_Mutation_p.W297L|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.W287L|MED29_ENST00000594368.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)		p.W297L(2)		lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTCACGTTCCAGTTGTACTC	0.478																																							uc002old.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(889-891)TGG>TTG		Paf1, RNA polymerase II associated factor,							227.0	180.0	196.0					19																	39879075		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879075C>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879075C>A	Exception_encountered					PAF1_uc002ole.1_Missense_Mutation_p.W287L|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.W297L	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		11	1065	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		297					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.890G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.200430	0.79015	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.81341	2.54	0.80722	D	1	D;P	0.76494	0.999;0.872	D;P	0.76575	0.988;0.857	T	0.78740	-0.2086	9	0.37606	T	0.19	-10.3066	15.2943	0.73891	0.0:1.0:0.0:0.0	.	264;297	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	L	297;264;244	.	ENSP00000221265:W297L	W	-	2	0	PAF1	44570915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.028000	0.76470	2.464000	0.83262	0.650000	0.86243	TGG		0.478	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		87	196	1	0	4.3955e-51	0.01441	7.14269e-51	87	196				
LILRB1	10859	broad.mit.edu	37	19	55144063	55144063	+	Silent	SNP	C	C	T	rs372648620		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:55144063C>T	ENST00000396331.1	+	7	1167	c.810C>T	c.(808-810)ggC>ggT	p.G270G	LILRB1_ENST00000434867.2_Silent_p.G270G|LILRB1_ENST00000427581.2_Silent_p.G306G|LILRB1_ENST00000396327.3_Silent_p.G270G|LILRB1_ENST00000396332.4_Silent_p.G270G|LILRB1_ENST00000448689.1_Silent_p.G270G|LILRB1_ENST00000324602.7_Silent_p.G270G|LILRB1_ENST00000418536.2_Silent_p.G270G|LILRB1_ENST00000396317.1_Silent_p.G270G|LILRB1_ENST00000396321.2_Silent_p.G270G|LILRB1_ENST00000396315.1_Silent_p.G270G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	270	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.G270G(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTCGCTGGCGCACAGCCCC	0.607										HNSCC(37;0.09)			c|||	1	0.000199681	0.0	0.0	5008	,	,		15604	0.0		0.001	False		,,,				2504	0.0						uc002qgj.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(808-810)GGC>GGT		leukocyte immunoglobulin-like receptor,		C	,,,	1,4405	2.1+/-5.4	0,1,2202	82.0	85.0	84.0		810,810,810,810	0.9	0.0	19		84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	270/653,270/652,270/652,270/651	55144063	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144063C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.810C>T	19.37:g.55144063C>T		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.G270G|LILRB1_uc002qgk.2_Silent_p.G270G|LILRB1_uc002qgm.2_Silent_p.G270G|LILRB1_uc010erq.2_Silent_p.G270G|LILRB1_uc010err.2_RNA	p.G270G	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1150	+			270			Ig-like C2-type 3.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.810C>T	CCDS42617.1																																																																																				0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			86	167	0	0	0	0.01441	0	86	167				
ZSCAN1	284312	broad.mit.edu	37	19	58551855	58551855	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:58551855G>T	ENST00000282326.1	+	4	655	c.408G>T	c.(406-408)tgG>tgT	p.W136C		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	136					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.W136C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCAGGACTGGAGTTTCGGTG	0.622																																							uc002qrc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(406-408)TGG>TGT		zinc finger and SCAN domain containing 1							114.0	124.0	120.0					19																	58551855		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551855G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.408G>T	19.37:g.58551855G>T	ENSP00000282326:p.Trp136Cys						p.W136C	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	655	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	136					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.408G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102209	0.06967	.	.	ENSG00000152467	ENST00000282326	T	0.04194	3.68	1.09	1.09	0.20402	Transcription regulator SCAN (1);	.	.	.	.	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.41070	-0.9529	9	0.52906	T	0.07	.	5.5387	0.17026	0.0:0.0:1.0:0.0	.	136	Q8NBB4	ZSCA1_HUMAN	C	136	ENSP00000282326:W136C	ENSP00000282326:W136C	W	+	3	0	ZSCAN1	63243667	0.005000	0.15991	0.067000	0.19924	0.949000	0.60115	0.773000	0.26661	0.896000	0.36366	0.313000	0.20887	TGG		0.622	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		160	343	1	0	7.80376e-85	0.01441	1.29509e-84	160	343				
LTBP1	4052	broad.mit.edu	37	2	33572578	33572578	+	Splice_Site	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:33572578G>A	ENST00000404816.2	+	26	4353		c.e26+1		LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTCCACAGGTAAGTCCCAG	0.547																																							uc002ros.2		NA																	2	Unknown(2)		lung(2)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.e26+1		latent transforming growth factor beta binding							138.0	130.0	133.0					2																	33572578		2203	4300	6503	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33572578G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4000+1G>A	2.37:g.33572578G>A						LTBP1_uc002rot.2_Splice_Site_p.D1009_splice|LTBP1_uc002rou.2_Splice_Site_p.D1008_splice|LTBP1_uc002rov.2_Splice_Site_p.D955_splice|LTBP1_uc010ymz.1_Splice_Site_p.D966_splice|LTBP1_uc010yna.1_Splice_Site_p.D913_splice|LTBP1_uc010ynb.1_Splice_Site_p.D232_splice	p.D1335_splice	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			26	4003	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)						A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Splice_Site	SNP	ENST00000404816.2	37	c.4003_splice	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925920	0.73327	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0846	0.93198	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP1	33426082	1.000000	0.71417	0.996000	0.52242	0.841000	0.47740	8.766000	0.91728	2.594000	0.87642	0.561000	0.74099	.		0.547	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Intron	87	157	0	0	0	0.01441	0	87	157				
LINC01317	104355287	broad.mit.edu	37	2	33952372	33952372	+	lincRNA	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:33952372G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA														p.I157I(1)									TGGGGAAGCGGATGGGCAGCA	0.632																																							uc002rpb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(469-471)ATC>ATT		RecName: Full=Myeloid-associated differentiation marker-like protein.;																																						151325							g.chr2:33952372G>A																													2.37:g.33952372G>A							p.I157I	NR_003143						1	913	-									Silent	SNP	ENST00000366209.2	37	c.471C>T																																																																																					0.632	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			14	27	0	0	0	0.016723	0	14	27				
PPM1B	5495	broad.mit.edu	37	2	44429147	44429147	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:44429147A>G	ENST00000282412.4	+	2	1221	c.809A>G	c.(808-810)aAt>aGt	p.N270S	PPM1B_ENST00000378551.2_Missense_Mutation_p.N270S|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.N270S|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.N270S	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	270					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.N270S(6)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCTGGAAAATGTGTGCAAT	0.353																																							uc002rtt.2		NA																	6	Substitution - Missense(6)		lung(6)	kidney(1)|skin(1)	2						c.(808-810)AAT>AGT		protein phosphatase 1B isoform 1							107.0	103.0	104.0					2																	44429147		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44429147A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.809A>G	2.37:g.44429147A>G	ENSP00000282412:p.Asn270Ser					PPM1B_uc002rts.2_Missense_Mutation_p.N270S|PPM1B_uc002rtu.2_Missense_Mutation_p.N270S|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.N270S|PPM1B_uc002rtx.2_Missense_Mutation_p.N270S	p.N270S	NM_002706	NP_002697	O75688	PPM1B_HUMAN			2	1237	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	270					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.809A>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	4.333	0.061192	0.08339	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.89	4.73	0.59995	Protein phosphatase 2C-like (5);	0.086437	0.85682	N	0.000000	T	0.04272	0.0118	N	0.00465	-1.465	0.33987	D	0.648655	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.001;0.002;0.002;0.003	T	0.18524	-1.0334	10	0.17832	T	0.49	-18.149	8.7862	0.34823	0.8047:0.1283:0.0669:0.0	.	270;270;270;270;270	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	S	270	ENSP00000390087:N270S;ENSP00000387341:N270S;ENSP00000387287:N270S;ENSP00000282412:N270S;ENSP00000367813:N270S	ENSP00000282412:N270S	N	+	2	0	PPM1B	44282651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.573000	0.46007	1.046000	0.40249	0.533000	0.62120	AAT		0.353	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		15	44	0	0	0	0.008871	0	15	44				
MYO7B	4648	broad.mit.edu	37	2	128391816	128391816	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:128391816G>A	ENST00000409816.2	+	39	5531	c.5499G>A	c.(5497-5499)caG>caA	p.Q1833Q	MYO7B_ENST00000428314.1_Silent_p.Q1833Q|MYO7B_ENST00000389524.4_Silent_p.Q1834Q|MYO7B_ENST00000409090.1_Silent_p.Q686Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1833	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.|MyTH4 3. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q2077Q(1)|p.Q1833Q(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGCTGCAGCTGGCCTCCT	0.662																																							uc002top.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(5497-5499)CAG>CAA		myosin VIIB							20.0	23.0	22.0					2																	128391816		1982	4158	6140	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128391816G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5499G>A	2.37:g.128391816G>A						MYO7B_uc002tos.1_5'UTR|MYO7B_uc002tot.2_5'UTR	p.Q1833Q	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	40	5552	+	Colorectal(110;0.1)		1833			FERM 2.|MyTH4 3.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.5499G>A	CCDS46405.1																																																																																				0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		7	12	0	0	0	0.00308	0	7	12				
WIPF1	7456	broad.mit.edu	37	2	175437101	175437101	+	Silent	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:175437101T>A	ENST00000392547.2	-	5	531	c.432A>T	c.(430-432)ccA>ccT	p.P144P	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P144P|WIPF1_ENST00000272746.5_Silent_p.P144P|WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P144P|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P144P|WIPF1_ENST00000392546.2_Silent_p.P144P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	144					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P144P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTGGGCCACTTGGGGGTGAAA	0.582																																							uc002uiy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(430-432)CCA>CCT		WAS/WASL interacting protein family, member 1							40.0	49.0	46.0					2																	175437101		2202	4299	6501	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175437101T>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.432A>T	2.37:g.175437101T>A						uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P144P|WIPF1_uc010fqt.1_Silent_p.P144P|WIPF1_uc002ujc.1_Silent_p.P144P|WIPF1_uc002uiz.2_Silent_p.P144P|WIPF1_uc002ujb.1_Silent_p.P144P|WIPF1_uc010zep.1_Silent_p.P144P	p.P144P	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	764	-			144					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.432A>T	CCDS2260.1																																																																																				0.582	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		43	111	0	0	0	0.009718	0	43	111				
TRPM8	79054	broad.mit.edu	37	2	234835266	234835266	+	Silent	SNP	G	G	A	rs149381224	byFrequency	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:234835266G>A	ENST00000324695.4	+	2	124	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	28					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A28A(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACTCCAGCGCGTCTCGGAGCA	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		21437	0.002		0.0	False		,,,				2504	0.0						uc002vvh.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(4)	4						c.(82-84)GCG>GCA		transient receptor potential cation channel,	Menthol(DB00825)	G		0,4406		0,0,2203	118.0	102.0	107.0		84	-1.6	0.0	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPM8	NM_024080.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		28/1105	234835266	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234835266G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.84G>A	2.37:g.234835266G>A						TRPM8_uc010fyj.2_5'UTR	p.A28A	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	2	124	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	28			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.84G>A	CCDS33407.1																																																																																				0.512	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		28	63	0	0	0	0.004656	0	28	63				
GART	2618	broad.mit.edu	37	21	34883584	34883584	+	Silent	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr21:34883584A>G	ENST00000381831.3	-	17	2552	c.2289T>C	c.(2287-2289)atT>atC	p.I763I	GART_ENST00000381839.3_Silent_p.I763I|GART_ENST00000543717.1_Silent_p.I315I|GART_ENST00000381815.4_Silent_p.I763I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	763	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.I763I(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACACTGCCAATCACCCAGG	0.453																																							uc002yrx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2287-2289)ATT>ATC		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						204.0	191.0	195.0					21																	34883584		2203	4300	6503	SO:0001819	synonymous_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34883584A>G	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2289T>C	21.37:g.34883584A>G						GART_uc002yrz.2_Silent_p.I763I|GART_uc010gmd.2_Silent_p.I425I|GART_uc002yry.2_Silent_p.I763I	p.I763I	NM_000819	NP_000810	P22102	PUR2_HUMAN			17	2424	-			763			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.2289T>C	CCDS13627.1																																																																																				0.453	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		137	336	0	0	0	0.01441	0	137	336				
DSCAM	1826	broad.mit.edu	37	21	41496170	41496170	+	Silent	SNP	G	G	A	rs201137339	byFrequency	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr21:41496170G>A	ENST00000400454.1	-	20	4125	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1216	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATGATGCCGTTCAGCTTGA	0.572													G|||	4	0.000798722	0.003	0.0	5008	,	,		17417	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3646-3648)AAC>AAT		Down syndrome cell adhesion molecule isoform		G		11,4069		0,11,2029	155.0	164.0	161.0		3648	-3.6	1.0	21		161	0,8370		0,0,4185	no	coding-synonymous	DSCAM	NM_001389.3		0,11,6214	AA,AG,GG		0.0,0.2696,0.0884		1216/2013	41496170	11,12439	2040	4185	6225	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496170G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3648C>T	21.37:g.41496170G>A						DSCAM_uc002yyr.1_RNA	p.N1216N	NM_001389	NP_001380	O60469	DSCAM_HUMAN			20	4100	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1216			Fibronectin type-III 4.|Extracellular (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.3648C>T	CCDS42929.1																																																																																				0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		12	334	0	0	0	0.010729	0	12	334				
POFUT2	23275	broad.mit.edu	37	21	46697007	46697007	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr21:46697007C>A	ENST00000349485.5	-	6	782	c.756G>T	c.(754-756)gaG>gaT	p.E252D	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Missense_Mutation_p.E252D	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	252					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.E252D(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TGCTCCTGAACTCGTCTCCCA	0.612																																							uc002zhc.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(754-756)GAG>GAT		protein O-fucosyltransferase 2 isoform C							137.0	109.0	119.0					21																	46697007		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46697007C>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.756G>T	21.37:g.46697007C>A	ENSP00000339613:p.Glu252Asp					POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.E252D	p.E252D	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	6	781	-			252					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.756G>T	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.927|6.927	0.540799|0.540799	0.13250|0.13250	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000331343;ENST00000349485|ENST00000451615	T;T|.	0.30714|.	1.52;1.52|.	4.34|4.34	2.32|2.32	0.28847|0.28847	.|.	0.311140|.	0.38548|.	N|.	0.001646|.	T|T	0.36991|0.36991	0.0987|0.0987	N|N	0.21194|0.21194	0.64|0.64	0.47949|0.47949	D|D	0.99955|0.99955	B;B|.	0.14012|.	0.005;0.009|.	B;B|.	0.14578|.	0.009;0.011|.	T|T	0.08066|0.08066	-1.0740|-1.0740	10|5	0.19590|.	T|.	0.45|.	-0.4558|-0.4558	4.6938|4.6938	0.12793|0.12793	0.1725:0.6243:0.0:0.2032|0.1725:0.6243:0.0:0.2032	.|.	252;252|.	Q9Y2G5-1;Q9Y2G5|.	.;OFUT2_HUMAN|.	D|F	252|175	ENSP00000329682:E252D;ENSP00000339613:E252D|.	ENSP00000329682:E252D|.	E|V	-|-	3|1	2|0	POFUT2|POFUT2	45521435|45521435	0.011000|0.011000	0.17503|0.17503	0.960000|0.960000	0.40013|0.40013	0.136000|0.136000	0.21042|0.21042	-0.453000|-0.453000	0.06778|0.06778	0.903000|0.903000	0.36546|0.36546	0.491000|0.491000	0.48974|0.48974	GAG|GTT		0.612	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		80	204	1	0	2.60632e-51	0.01441	4.27984e-51	80	204				
CCDC116	164592	broad.mit.edu	37	22	21991045	21991045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:21991045C>T	ENST00000292779.3	+	5	1689	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	510								p.Q510*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AAGGGCCCGGCAGGCCTCCCG	0.642																																							uc002zve.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1528-1530)CAG>TAG		coiled-coil domain containing 116							42.0	49.0	47.0					22																	21991045		2203	4300	6503	SO:0001587	stop_gained	164592							g.chr22:21991045C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1528C>T	22.37:g.21991045C>T	ENSP00000292779:p.Gln510*						p.Q510*	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			5	1621	+	Colorectal(54;0.105)		510					Q8N9Y9	Nonsense_Mutation	SNP	ENST00000292779.3	37	c.1528C>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235009	0.95207	.	.	ENSG00000161180	ENST00000292779	.	.	.	4.88	3.83	0.44106	.	1.724230	0.03835	N	0.269737	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-8.115	10.1406	0.42734	0.1992:0.8008:0.0:0.0	.	.	.	.	X	510	.	ENSP00000292779:Q510X	Q	+	1	0	CCDC116	20321045	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	0.863000	0.27913	1.229000	0.43630	0.484000	0.47621	CAG		0.642	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		91	149	0	0	0	0.01441	0	91	149				
NPTXR	23467	broad.mit.edu	37	22	39218644	39218644	+	Silent	SNP	G	G	A	rs145163836		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:39218644G>A	ENST00000333039.2	-	5	1596	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	491	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.F491F(2)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGACATCGAAGGCAGCCT	0.622																																					Pancreas(139;2521 3281 36965)	Pancreas(139;2521 3281 36965)	uc003awk.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(1)	3						c.(1471-1473)TTC>TTT		neuronal pentraxin receptor		G		1,4405	2.1+/-5.4	0,1,2202	47.0	32.0	37.0		1473	-6.7	0.9	22	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	NPTXR	NM_014293.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		491/501	39218644	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23467					integral to membrane	metal ion binding	g.chr22:39218644G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1473C>T	22.37:g.39218644G>A							p.F491F	NM_014293	NP_055108	O95502	NPTXR_HUMAN			5	1627	-	Melanoma(58;0.04)		491			Pentaxin.|Extracellular (Potential).			Silent	SNP	ENST00000333039.2	37	c.1473C>T	CCDS33647.1																																																																																				0.622	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		20	49	0	0	0	0.008871	0	20	49				
PRR5	55615	broad.mit.edu	37	22	45075718	45075718	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:45075718C>T	ENST00000403581.1	+	2	648	c.39C>T	c.(37-39)ggC>ggT	p.G13G	PRR5_ENST00000006251.7_Intron	NM_001198721.1	NP_001185650.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	0	Interaction with RICTOR.				cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)		p.G13G(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AAGCCTGGGGCTCGGGAAGCC	0.612																																							uc010gzt.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(37-39)GGC>GGT		proline rich 5 (renal) isoform 3							11.0	12.0	12.0					22																	45075718		875	1987	2862	SO:0001819	synonymous_variant	55615				cell cycle			g.chr22:45075718C>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000403581.1:c.39C>T	22.37:g.45075718C>T						PRR5_uc003bew.1_Intron|PRR5_uc003bex.1_Intron|PRR5_uc010gzu.1_Intron|PRR5_uc003bey.1_Intron|PRR5_uc003bez.1_Intron	p.G13G	NM_001017530	NP_001017530	P85299	PRR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	2	925	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)	Error:Variant_position_missing_in_P85299_after_alignment					B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000403581.1	37	c.39C>T	CCDS56232.1																																																																																				0.612	PRR5-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318199.1	NM_001017528		10	14	0	0	0	0.013537	0	10	14				
MAGI1	9223	broad.mit.edu	37	3	65479199	65479199	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:65479199C>A	ENST00000497477.2	-	3	537	c.538G>T	c.(538-540)Ggc>Tgc	p.G180C	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.G180C|MAGI1_ENST00000402939.2_Missense_Mutation_p.G180C|MAGI1_ENST00000330909.8_Missense_Mutation_p.G180C			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	180	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.G180C(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATAGGTGCCGACTTCCAGA	0.498																																							uc003dmn.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(538-540)GGC>TGC		membrane associated guanylate kinase, WW and PDZ							85.0	79.0	81.0					3																	65479199		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65479199C>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.538G>T	3.37:g.65479199C>A	ENSP00000424369:p.Gly180Cys					MAGI1_uc003dmm.2_Missense_Mutation_p.G180C|MAGI1_uc003dmo.2_Missense_Mutation_p.G180C|MAGI1_uc003dmp.2_Missense_Mutation_p.G180C|MAGI1_uc010hny.2_Missense_Mutation_p.G64C|MAGI1_uc003dmr.2_Missense_Mutation_p.G180C	p.G180C	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	3	1064	-		Lung NSC(201;0.0016)	180			Guanylate kinase-like.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.538G>T		.	.	.	.	.	.	.	.	.	.	C	28.9	4.960254	0.92791	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.9	5.9	0.94986	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	T	0.65594	-0.6130	10	0.87932	D	0	-22.1048	20.2552	0.98417	0.0:1.0:0.0:0.0	.	180;180;180;180;180;180	Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;MAGI1_HUMAN;.;.;.;.	C	180;180;76;55;180;180	ENSP00000385450:G180C;ENSP00000331157:G180C;ENSP00000418177:G55C;ENSP00000420323:G180C;ENSP00000424369:G180C	ENSP00000331157:G180C	G	-	1	0	MAGI1	65454239	1.000000	0.71417	0.974000	0.42286	0.926000	0.56050	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGC		0.498	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		36	75	1	0	9.65963e-10	0.015359	1.24537e-09	36	75				
EPHA6	285220	broad.mit.edu	37	3	96963011	96963011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:96963011G>T	ENST00000389672.5	+	5	1524	c.1486G>T	c.(1486-1488)Gta>Tta	p.V496L	EPHA6_ENST00000470610.2_Missense_Mutation_p.V496L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	402	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.V402L(4)|p.V496L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTCCGTGATAGTACTTGACTT	0.443																																							uc010how.1		NA																	6	Substitution - Missense(6)		lung(6)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1486-1488)GTA>TTA		EPH receptor A6 isoform a							130.0	131.0	131.0					3																	96963011		1986	4172	6158	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96963011G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1486G>T	3.37:g.96963011G>T	ENSP00000374323:p.Val496Leu					EPHA6_uc003drp.1_Missense_Mutation_p.V496L	p.V496L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			5	1529	+			401			Fibronectin type-III 1.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1486G>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789153	0.70337	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	T;T	0.56103	0.48;0.48	5.68	5.68	0.88126	.	.	.	.	.	T	0.56688	0.2002	M	0.63843	1.955	0.80722	D	1	P;P	0.38551	0.636;0.636	B;B	0.39935	0.314;0.314	T	0.57081	-0.7872	9	0.44086	T	0.13	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	496;496	B3KS12;E7EU71	.;.	L	496	ENSP00000420598:V496L;ENSP00000374323:V496L	ENSP00000374323:V496L	V	+	1	0	EPHA6	98445701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.342000	0.65970	2.685000	0.91497	0.650000	0.86243	GTA		0.443	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		14	29	1	0	0.000151284	0.016723	0.0001662	14	29				
NAALADL2	254827	broad.mit.edu	37	3	174951895	174951895	+	Silent	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:174951895T>C	ENST00000454872.1	+	3	848	c.720T>C	c.(718-720)ttT>ttC	p.F240F	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	240						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTCAATGCTTTCATCCTAATG	0.488																																							uc003fit.2		NA																	0				pancreas(1)	1						c.(718-720)TTT>TTC		N-acetylated alpha-linked acidic dipeptidase 2							105.0	100.0	102.0					3																	174951895		1992	4166	6158	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951895T>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.720T>C	3.37:g.174951895T>C						NAALADL2_uc003fiu.1_Silent_p.F233F|NAALADL2_uc010hwy.1_Silent_p.F62F	p.F240F	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	807	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	240			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.720T>C	CCDS46960.1																																																																																				0.488	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		3	95	0	0	0	0.004672	0	3	95				
PEX5L	51555	broad.mit.edu	37	3	179519752	179519752	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:179519752G>C	ENST00000467460.1	-	15	2075	c.1745C>G	c.(1744-1746)cCt>cGt	p.P582R	PEX5L_ENST00000263962.8_Missense_Mutation_p.P580R|PEX5L_ENST00000468741.1_Missense_Mutation_p.P390R|RP11-494H4.3_ENST00000602704.1_lincRNA|PEX5L_ENST00000464614.1_Missense_Mutation_p.P474R|PEX5L_ENST00000465751.1_Missense_Mutation_p.P558R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.P539R|PEX5L_ENST00000485199.1_Missense_Mutation_p.P547R|PEX5L_ENST00000472994.1_Missense_Mutation_p.P523R|PEX5L_ENST00000392649.3_Missense_Mutation_p.P474R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	582					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.P582R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCAGGATGAGGAACTTGCTG	0.463																																							uc003fki.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1744-1746)CCT>CGT		peroxisomal biogenesis factor 5-like							158.0	169.0	165.0					3																	179519752		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179519752G>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1745C>G	3.37:g.179519752G>C	ENSP00000419975:p.Pro582Arg					PEX5L_uc011bqd.1_Missense_Mutation_p.P539R|PEX5L_uc011bqe.1_Missense_Mutation_p.P390R|PEX5L_uc011bqf.1_Missense_Mutation_p.P474R|PEX5L_uc003fkj.1_Missense_Mutation_p.P547R|PEX5L_uc010hxd.1_Missense_Mutation_p.P580R|PEX5L_uc011bqg.1_Missense_Mutation_p.P558R|PEX5L_uc011bqh.1_Missense_Mutation_p.P523R	p.P582R	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		15	1875	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		582					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1745C>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381160	0.42207	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.46	5.46	0.80206	.	0.214237	0.49916	D	0.000134	T	0.56615	0.1997	N	0.03608	-0.345	0.58432	D	0.999997	B;B;B;P;B;P	0.39404	0.316;0.316;0.28;0.672;0.444;0.543	B;B;B;B;B;B	0.35073	0.045;0.039;0.096;0.195;0.141;0.096	T	0.66320	-0.5953	10	0.54805	T	0.06	-14.3659	14.1848	0.65598	0.0:0.0:0.8504:0.1496	.	523;558;474;580;547;582	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	R	582;580;547;580;474;390;539;470;523;474;558	ENSP00000419975:P582R;ENSP00000263962:P580R;ENSP00000418440:P547R;ENSP00000376420:P474R;ENSP00000418665:P390R;ENSP00000420555:P539R;ENSP00000418054:P523R;ENSP00000417270:P474R;ENSP00000419348:P558R	ENSP00000263962:P580R	P	-	2	0	PEX5L	181002446	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.056000	0.71111	2.555000	0.86185	0.591000	0.81541	CCT		0.463	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		76	189	0	0	0	0.01441	0	76	189				
KDR	3791	broad.mit.edu	37	4	55955043	55955043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr4:55955043C>T	ENST00000263923.4	-	26	3797	c.3502G>A	c.(3502-3504)Gct>Act	p.A1168T	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1168					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A1168T(2)|p.A1168S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTGCTGAGCATTAGCTTGC	0.502			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		3	Substitution - Missense(3)		lung(3)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3502-3504)GCT>ACT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						120.0	111.0	114.0					4																	55955043		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955043C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3502G>A	4.37:g.55955043C>T	ENSP00000263923:p.Ala1168Thr	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.A1168T	p.A1168T	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		26	3804	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1168			Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3502G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171322	0.78452	.	.	ENSG00000128052	ENST00000263923	T	0.76709	-1.04	5.43	5.43	0.79202	.	0.111905	0.64402	D	0.000010	T	0.80701	0.4673	L	0.44542	1.39	0.47778	D	0.999519	D	0.65815	0.995	P	0.52909	0.713	T	0.80605	-0.1308	10	0.48119	T	0.1	.	19.5879	0.95497	0.0:1.0:0.0:0.0	.	1168	P35968	VGFR2_HUMAN	T	1168	ENSP00000263923:A1168T	ENSP00000263923:A1168T	A	-	1	0	KDR	55649800	1.000000	0.71417	0.996000	0.52242	0.389000	0.30415	5.740000	0.68629	2.711000	0.92665	0.467000	0.42956	GCT		0.502	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			11	29	0	0	0	0.010729	0	11	29				
IQGAP2	10788	broad.mit.edu	37	5	75936794	75936794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:75936794G>T	ENST00000274364.6	+	17	2257	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	654					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.E654*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTACATTCGTGAGAATATATG	0.408																																							uc003kek.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(6)|central_nervous_system(1)	7						c.(1960-1962)GAG>TAG		IQ motif containing GTPase activating protein 2							152.0	152.0	152.0					5																	75936794		2203	4300	6503	SO:0001587	stop_gained	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75936794G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1960G>T	5.37:g.75936794G>T	ENSP00000274364:p.Glu654*					IQGAP2_uc010izv.2_Nonsense_Mutation_p.E207*|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron	p.E654*	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	17	2182	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	654					A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	ENST00000274364.6	37	c.1960G>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	38	6.690012	0.97764	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000545384	.	.	.	5.86	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-23.9366	13.1899	0.59704	0.0:0.1598:0.8402:0.0	.	.	.	.	X	654;627;604;207;207	.	ENSP00000274364:E654X	E	+	1	0	IQGAP2	75972550	0.996000	0.38824	0.996000	0.52242	0.559000	0.35586	2.532000	0.45659	1.583000	0.49898	0.650000	0.86243	GAG		0.408	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		15	59	1	0	2.32078e-09	0.003163	2.94343e-09	15	59				
VCAN	1462	broad.mit.edu	37	5	82815769	82815769	+	Silent	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:82815769T>C	ENST00000265077.3	+	7	2209	c.1644T>C	c.(1642-1644)taT>taC	p.Y548Y	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.Y548Y|VCAN_ENST00000512590.2_Silent_p.Y500Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	548	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.Y548Y(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGGTCACTATGGATTCACCT	0.408																																							uc003kii.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1642-1644)TAT>TAC		versican isoform 1 precursor							159.0	153.0	155.0					5																	82815769		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815769T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1644T>C	5.37:g.82815769T>C						VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.Y548Y|VCAN_uc003kik.3_Intron	p.Y548Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2000	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	548			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1644T>C	CCDS4060.1																																																																																				0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		36	76	0	0	0	0.017118	0	36	76				
TTC37	9652	broad.mit.edu	37	5	94818288	94818288	+	Silent	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:94818288T>C	ENST00000358746.2	-	39	4399	c.4101A>G	c.(4099-4101)agA>agG	p.R1367R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1367						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.R1367R(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGAACTTGTCTCAAAAGTA	0.388																																							uc003klb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(4099-4101)AGA>AGG		tetratricopeptide repeat domain 37							134.0	128.0	130.0					5																	94818288		2203	4300	6503	SO:0001819	synonymous_variant	9652						binding	g.chr5:94818288T>C	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4101A>G	5.37:g.94818288T>C							p.R1367R	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			39	4371	-			1367					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.4101A>G	CCDS4072.1																																																																																				0.388	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		21	20	0	0	0	0.012319	0	21	20				
ELL2	22936	broad.mit.edu	37	5	95224622	95224622	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:95224622T>C	ENST00000237853.4	-	12	2225	c.1876A>G	c.(1876-1878)Agg>Ggg	p.R626G	ELL2_ENST00000431061.2_Missense_Mutation_p.R376G	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	626					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.R626G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CCTATTAGCCTTTTGATGTGA	0.343																																							uc003klr.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1876-1878)AGG>GGG		elongation factor, RNA polymerase II, 2							62.0	57.0	59.0					5																	95224622		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95224622T>C	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1876A>G	5.37:g.95224622T>C	ENSP00000237853:p.Arg626Gly						p.R626G	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	12	2226	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	626					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1876A>G	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137690	0.56936	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T;T	0.23348	1.91;1.91	5.88	5.88	0.94601	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.186731	0.56097	D	0.000025	T	0.35480	0.0933	L	0.31845	0.965	0.80722	D	1	P	0.34743	0.466	P	0.49421	0.61	T	0.12837	-1.0532	10	0.49607	T	0.09	-0.016	15.958	0.79902	0.0:0.0:0.0:1.0	.	626	O00472	ELL2_HUMAN	G	626;376	ENSP00000237853:R626G;ENSP00000399704:R376G	ENSP00000237853:R626G	R	-	1	2	ELL2	95250378	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.123000	0.57917	2.243000	0.73865	0.528000	0.53228	AGG		0.343	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		3	30	0	0	0	0.009096	0	3	30				
SEMA6A	57556	broad.mit.edu	37	5	115782618	115782618	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:115782618G>T	ENST00000343348.6	-	19	3571	c.2784C>A	c.(2782-2784)agC>agA	p.S928R	CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S945R|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S405R|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S307R|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S928R|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S355R|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	928					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.S928R(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGCCTGGTGGCTTCTCGTGA	0.557																																							uc010jck.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2782-2784)AGC>AGA		sema domain, transmembrane domain (TM), and							50.0	56.0	54.0					5																	115782618		2038	4196	6234	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782618G>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2784C>A	5.37:g.115782618G>T	ENSP00000345512:p.Ser928Arg					SEMA6A_uc003krx.3_Missense_Mutation_p.S945R|SEMA6A_uc011cwe.1_Missense_Mutation_p.S307R|SEMA6A_uc003krv.3_Missense_Mutation_p.S355R|SEMA6A_uc003krw.3_Missense_Mutation_p.S405R|SEMA6A_uc010jcj.2_Missense_Mutation_p.S472R	p.S928R	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3493	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	928			Cytoplasmic (Potential).		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2784C>A	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.907|8.907	0.957749|0.957749	0.18507|0.18507	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.41758	.|2.28;2.26;0.99;2.78;1.0;2.28	5.03|5.03	4.15|4.15	0.48705|0.48705	.|.	.|1.384010	.|0.04091	.|N	.|0.311336	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.01576|0.01576	-0.805|-0.805	0.39369|0.39369	D|D	0.966055|0.966055	.|B;B;B;P;P;B	.|0.46512	.|0.275;0.242;0.437;0.879;0.664;0.275	.|B;B;B;B;B;B	.|0.43103	.|0.075;0.05;0.1;0.408;0.117;0.118	T|T	0.18999|0.18999	-1.0319|-1.0319	5|10	.|0.38643	.|T	.|0.18	.|.	9.0998|9.0998	0.36662|0.36662	0.2237:0.0:0.7763:0.0|0.2237:0.0:0.7763:0.0	.|.	.|307;928;472;945;405;355	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	D|R	443|928;945;355;405;307;928	.|ENSP00000345512:S928R;ENSP00000257414:S945R;ENSP00000422997:S355R;ENSP00000282394:S405R;ENSP00000425364:S307R;ENSP00000424388:S928R	.|ENSP00000257414:S945R	A|S	-|-	2|3	0|2	SEMA6A|SEMA6A	115810517|115810517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.984000|1.984000	0.40658|0.40658	2.332000|2.332000	0.79248|0.79248	0.563000|0.563000	0.77884|0.77884	GCC|AGC		0.557	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		36	73	1	0	1.03484e-13	0.005524	1.41609e-13	36	73				
SNCAIP	9627	broad.mit.edu	37	5	121759333	121759333	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:121759333C>A	ENST00000261368.8	+	4	1163	c.901C>A	c.(901-903)Cta>Ata	p.L301I	SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L301I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.L348I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	301					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.L348I(4)|p.L301I(2)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGTCAGTGGCCTAAACCGGAC	0.483																																							uc003ksw.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)|pancreas(1)	2						c.(901-903)CTA>ATA		synuclein alpha interacting protein							88.0	92.0	90.0					5																	121759333		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121759333C>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.901C>A	5.37:g.121759333C>A	ENSP00000261368:p.Leu301Ile					SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.L301I|SNCAIP_uc003ksx.1_Missense_Mutation_p.L348I|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.L301I	p.L301I	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	4	1107	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	301					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.901C>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.795414	0.00617	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.13307	4.94;2.65;2.6;4.94;2.6;4.39	5.92	-11.8	0.00035	.	1.491630	0.03284	N	0.186605	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18610	0.0;0.029;0.005;0.003	B;B;B;B	0.12837	0.0;0.006;0.008;0.006	T	0.17501	-1.0367	9	.	.	.	0.5975	4.6664	0.12668	0.2048:0.2798:0.3849:0.1304	.	301;348;348;301	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	I	301;301;348;301;348;348	ENSP00000422106:L301I;ENSP00000261368:L301I;ENSP00000368848:L348I;ENSP00000368851:L301I;ENSP00000261367:L348I;ENSP00000423199:L348I	.	L	+	1	2	SNCAIP	121787232	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.461000	0.06712	-4.030000	0.00080	-0.152000	0.13540	CTA		0.483	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			43	89	1	0	1.00953e-15	0.013114	1.44483e-15	43	89				
PCDHA8	56140	broad.mit.edu	37	5	140221181	140221181	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:140221181G>A	ENST00000531613.1	+	1	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R92H|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R92H(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGCGAGGAGCTG	0.602																																							uc003lhs.2		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(274-276)CGC>CAC		protocadherin alpha 8 isoform 1 precursor							69.0	92.0	84.0					5																	140221181		2197	4287	6484	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221181G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.275G>A	5.37:g.140221181G>A	ENSP00000434655:p.Arg92His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R92H	p.R92H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	275	+			92			Cadherin 1.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.275G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955759	0.92726	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	3.91	3.91	0.45181	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.36338	U	0.002646	D	0.83857	0.5345	H	0.99516	4.605	0.39192	D	0.96298	D;D	0.89917	1.0;1.0	D;P	0.68353	0.957;0.839	D	0.92531	0.6033	10	0.87932	D	0	.	16.3256	0.82978	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	92	ENSP00000434655:R92H;ENSP00000367363:R92H	ENSP00000367363:R92H	R	+	2	0	PCDHA8	140201365	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.733000	0.98818	1.900000	0.55004	0.552000	0.68991	CGC		0.602	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		114	367	0	0	0	0.01441	0	114	367				
PCDHA12	56137	broad.mit.edu	37	5	140256557	140256557	+	Silent	SNP	C	C	A	rs374149249		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:140256557C>A	ENST00000398631.2	+	1	1500	c.1500C>A	c.(1498-1500)ggC>ggA	p.G500G	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G500G(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGGTGGGCGAGCACGCAC	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1498-1500)GGC>GGA		protocadherin alpha 12 isoform 1 precursor							64.0	66.0	66.0					5																	140256557		2203	4299	6502	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256557C>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1500C>A	5.37:g.140256557C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.G500G	p.G500G	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1627	+			500			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1500C>A	CCDS47285.1																																																																																				0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		57	97	1	0	5.86059e-21	0.01441	8.70716e-21	57	97				
RARS	5917	broad.mit.edu	37	5	167933091	167933091	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:167933091A>G	ENST00000231572.3	+	10	1177	c.1123A>G	c.(1123-1125)Ata>Gta	p.I375V	RARS_ENST00000538719.1_Missense_Mutation_p.I169V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	375					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I375V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACCATTAACCATAGTAAAATC	0.358																																							uc003lzx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1123-1125)ATA>GTA		arginyl-tRNA synthetase							149.0	148.0	148.0					5																	167933091		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167933091A>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1123A>G	5.37:g.167933091A>G	ENSP00000231572:p.Ile375Val					RARS_uc011deo.1_Missense_Mutation_p.I169V	p.I375V	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	10	1164	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	375					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.1123A>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	A	5.345	0.248910	0.10130	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.66460	-0.21;0.22	5.58	1.88	0.25563	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.081617	0.85682	N	0.000000	T	0.39279	0.1072	N	0.11000	0.08	0.51012	D	0.999909	B	0.14012	0.009	B	0.20184	0.028	T	0.30736	-0.9968	10	0.02654	T	1	-14.7704	9.4998	0.39011	0.7985:0.0:0.2015:0.0	.	375	P54136	SYRC_HUMAN	V	375;169	ENSP00000231572:I375V;ENSP00000439108:I169V	ENSP00000231572:I375V	I	+	1	0	RARS	167865669	0.552000	0.26505	0.933000	0.37362	0.982000	0.71751	1.277000	0.33167	0.147000	0.19030	0.533000	0.62120	ATA		0.358	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		44	114	0	0	0	0.013114	0	44	114				
TMEM63B	55362	broad.mit.edu	37	6	44119729	44119729	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:44119729G>T	ENST00000259746.9	+	19	2003	c.1820G>T	c.(1819-1821)aGg>aTg	p.R607M	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R607M			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	607					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.R607M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCCGCCGAGAGGCGCAACGTG	0.672											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003owr.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(1819-1821)AGG>ATG		transmembrane protein 63B							20.0	16.0	17.0					6																	44119729		2199	4295	6494	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119729G>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1820G>T	6.37:g.44119729G>T	ENSP00000259746:p.Arg607Met		OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_uc003ows.2_Missense_Mutation_p.R510M|TMEM63B_uc010jyz.2_RNA	p.R607M	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		19	1884	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		607					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1820G>T	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.024979|5.024979	0.93518|0.93518	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000323267	.|T;T	.|0.32023	.|1.47;1.47	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Domain of unknown function DUF221 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56292|0.56292	0.1975|0.1975	M|M	0.86343|0.86343	2.81|2.81	0.54753|0.54753	D|D	0.999985|0.999985	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.64313|0.64313	-0.6437|-0.6437	5|10	.|0.87932	.|D	.|0	.|.	17.5172|17.5172	0.87777|0.87777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|607	.|Q5T3F8	.|TM63B_HUMAN	C|M	536|607	.|ENSP00000259746:R607M;ENSP00000327154:R607M	.|ENSP00000259746:R607M	G|R	+|+	1|2	0|0	TMEM63B|TMEM63B	44227707|44227707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.723000|7.723000	0.84788|0.84788	2.611000|2.611000	0.88343|0.88343	0.557000|0.557000	0.71058|0.71058	GGC|AGG		0.672	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		23	14	1	0	1.39806e-14	0.008361	1.96483e-14	23	14				
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622																																							uc003pao.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(22-24)CGC>CAC		progestin and adipoQ receptor family member							27.0	26.0	27.0					6																	52268034		2202	4298	6500	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268034G>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.23G>A	6.37:g.52268034G>A	ENSP00000406197:p.Arg8His						p.R8H	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	197	+	Lung NSC(77;0.0875)		8			Cytoplasmic (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.23G>A	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013836	0.54468	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.48201	0.82;1.85;1.85	5.3	4.37	0.52481	.	0.057774	0.64402	D	0.000002	T	0.29355	0.0731	L	0.57536	1.79	0.53688	D	0.999971	B	0.15719	0.014	B	0.14023	0.01	T	0.26710	-1.0095	10	0.72032	D	0.01	-26.5311	11.8411	0.52355	0.0921:0.0:0.9079:0.0	.	8	Q8TEZ7	MPRB_HUMAN	H	8	ENSP00000427161:R8H;ENSP00000406197:R8H;ENSP00000353953:R8H	ENSP00000353953:R8H	R	+	2	0	PAQR8	52375993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.373000	0.52394	1.105000	0.41606	0.655000	0.94253	CGC		0.622	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		10	49	0	0	0	0.013537	0	10	49				
COL12A1	1303	broad.mit.edu	37	6	75841736	75841736	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:75841736G>A	ENST00000322507.8	-	35	6166	c.5857C>T	c.(5857-5859)Cgc>Tgc	p.R1953C	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1953C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1953C|COL12A1_ENST00000345356.6_Missense_Mutation_p.R789C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1953	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1953C(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGTCCCAGCGAACATCGAGG	0.458																																							uc003phs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(5857-5859)CGC>TGC		collagen, type XII, alpha 1 long isoform																																				SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75841736G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5857C>T	6.37:g.75841736G>A	ENSP00000325146:p.Arg1953Cys					COL12A1_uc003pht.2_Missense_Mutation_p.R789C	p.R1953C	NM_004370	NP_004361	Q99715	COCA1_HUMAN			35	6023	-			1953			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5857C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797398	0.90538	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.76637	0.4015	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.931;0.97	T	0.77313	-0.2634	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	789;1953	Q99715-2;Q99715	.;COCA1_HUMAN	C	1953;1953;789;1953;1953	ENSP00000325146:R1953C;ENSP00000305147:R789C;ENSP00000412864:R1953C;ENSP00000421216:R1953C	ENSP00000325146:R1953C	R	-	1	0	COL12A1	75898456	1.000000	0.71417	0.972000	0.41901	0.624000	0.37722	7.644000	0.83416	2.941000	0.99782	0.655000	0.94253	CGC		0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		14	56	0	0	0	0.020292	0	14	56				
UBE3D	90025	broad.mit.edu	37	6	83775392	83775392	+	Nonsense_Mutation	SNP	C	C	A	rs200020123		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:83775392C>A	ENST00000369747.3	-	1	168	c.46G>T	c.(46-48)Gga>Tga	p.G16*	DOPEY1_ENST00000237163.5_5'Flank|DOPEY1_ENST00000349129.2_5'Flank|UBE3D_ENST00000369745.5_Nonsense_Mutation_p.G16*|DOPEY1_ENST00000536812.1_5'Flank	NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	16					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.G16*(1)									TGCAGCTGTCCCCGCACCTCC	0.672											OREG0017550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003pjp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(46-48)GGA>TGA		ubiquitin-conjugating enzyme E2C binding							33.0	36.0	35.0					6																	83775392		2203	4300	6503	SO:0001587	stop_gained	90025					cytoplasm	ligase activity	g.chr6:83775392C>A	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.46G>T	6.37:g.83775392C>A	ENSP00000358762:p.Gly16*		OREG0017550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1224	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_5'UTR|DOPEY1_uc003pjs.1_5'Flank	p.G16*	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0944)	1	154	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	16					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Nonsense_Mutation	SNP	ENST00000369747.3	37	c.46G>T	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264201	0.59431	.	.	ENSG00000118420	ENST00000369747;ENST00000369745	.	.	.	3.89	-1.77	0.07982	.	0.330750	0.30949	N	0.008556	.	.	.	.	.	.	0.49798	D	0.999829	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5654	4.4607	0.11665	0.0:0.309:0.3389:0.3521	.	.	.	.	X	16	.	ENSP00000358760:G16X	G	-	1	0	UBE2CBP	83832111	0.695000	0.27747	0.990000	0.47175	0.352000	0.29268	-0.094000	0.11094	-0.377000	0.07930	-0.786000	0.03341	GGA		0.672	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		14	16	1	0	7.93312e-07	0.020292	9.44707e-07	14	16				
HOXA11	3207	broad.mit.edu	37	7	27222458	27222459	+	Missense_Mutation	DNP	TT	TT	AG			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:27222458_27222459TT>AG	ENST00000006015.3	-	2	969_970	c.898_899AA>CT	c.(898-900)AAc>CTc	p.N300L	RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	300					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.N300L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						ACGGTCTCTGTTAATTTTTTTT	0.446			T	NUP98	CML																																		uc003syx.2		NA		Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(898-900)AAC>CTC		homeobox A11																																				SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222458_27222459TT>AG		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.898_899delinsAG	7.37:g.27222458_27222459delinsAG	ENSP00000006015:p.Asn300Leu					HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	p.N300L	NM_005523	NP_005514	P31270	HXA11_HUMAN			2	970_971	-			300			Homeobox.		A4D190	Missense_Mutation	DNP	ENST00000006015.3	37	c.898_899AA>CT	CCDS5411.1																																																																																				0.446	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			49	167	0	0	0	0.004672	0	49	167				
FAM188B	84182	broad.mit.edu	37	7	30821598	30821598	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:30821598G>T	ENST00000265299.6	+	3	266	c.189G>T	c.(187-189)aaG>aaT	p.K63N	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	63								p.K63N(2)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATAGGCAAAGGAAAATCCTC	0.363																																							uc003tbt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(187-189)AAG>AAT		hypothetical protein LOC84182							57.0	50.0	52.0					7																	30821598		1821	4082	5903	SO:0001583	missense	84182							g.chr7:30821598G>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.189G>T	7.37:g.30821598G>T	ENSP00000265299:p.Lys63Asn					FAM188B_uc010kwe.2_Missense_Mutation_p.K34N	p.K63N	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			3	266	+			63					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.189G>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465446	0.63513	.	.	ENSG00000106125	ENST00000265299	T	0.26223	1.75	5.21	1.91	0.25777	.	0.233852	0.44097	D	0.000496	T	0.35158	0.0922	M	0.70595	2.14	0.37680	D	0.923445	D	0.57257	0.979	P	0.52554	0.702	T	0.30297	-0.9983	10	0.87932	D	0	-0.516	7.2301	0.26038	0.2853:0.0:0.7147:0.0	.	63	Q4G0A6	F188B_HUMAN	N	63	ENSP00000265299:K63N	ENSP00000265299:K63N	K	+	3	2	FAM188B	30788123	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.320000	0.19540	0.188000	0.20168	0.655000	0.94253	AAG		0.363	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		20	46	1	0	2.37509e-13	0.010504	3.22186e-13	20	46				
RELN	5649	broad.mit.edu	37	7	103162494	103162494	+	Missense_Mutation	SNP	G	G	A	rs139106600		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:103162494G>A	ENST00000428762.1	-	48	7802	c.7643C>T	c.(7642-7644)tCg>tTg	p.S2548L	RELN_ENST00000424685.2_Missense_Mutation_p.S2548L|RELN_ENST00000343529.5_Missense_Mutation_p.S2548L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2548					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S2548L(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCCATTCCCGACGCCACGGC	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7642-7644)TCG>TTG		reelin isoform a		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	145.0	130.0	135.0		7643,7643	5.4	1.0	7	dbSNP_134	135	0,8600		0,0,4300	no	missense,missense	RELN	NM_005045.3,NM_173054.2	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2548/3461,2548/3459	103162494	1,13005	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103162494G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7643C>T	7.37:g.103162494G>A	ENSP00000392423:p.Ser2548Leu					RELN_uc010liz.2_Missense_Mutation_p.S2548L	p.S2548L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	48	7803	-			2548					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7643C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717612	0.89205	2.27E-4	0.0	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.42	5.42	0.78866	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.63793	0.918;0.817	T	0.49960	-0.8883	10	0.59425	D	0.04	.	19.5822	0.95471	0.0:0.0:1.0:0.0	.	2548;2548	P78509-2;P78509	.;RELN_HUMAN	L	2548;2548;2548;65;2548	ENSP00000392423:S2548L;ENSP00000345694:S2548L;ENSP00000388446:S2548L	ENSP00000345694:S2548L	S	-	2	0	RELN	102949730	1.000000	0.71417	0.960000	0.40013	0.865000	0.49528	9.375000	0.97178	2.704000	0.92352	0.563000	0.77884	TCG		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		56	129	0	0	0	0.01441	0	56	129				
LRRN3	54674	broad.mit.edu	37	7	110764933	110764933	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:110764933G>T	ENST00000422987.3	+	2	2936	c.2105G>T	c.(2104-2106)gGt>gTt	p.G702V	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.G702V|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.G702V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	702					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G702V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACTGTTATAGGTTTACCAACA	0.353																																							uc003vft.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(2104-2106)GGT>GTT		leucine rich repeat neuronal 3 precursor							44.0	47.0	46.0					7																	110764933		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764933G>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2105G>T	7.37:g.110764933G>T	ENSP00000412417:p.Gly702Val					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.G702V|LRRN3_uc003vfs.3_Missense_Mutation_p.G702V	p.G702V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3151	+			702			Cytoplasmic (Potential).		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.2105G>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527648	0.44969	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.61742	0.08;0.08;0.08	5.57	4.69	0.59074	.	0.259681	0.27424	N	0.019433	T	0.52629	0.1746	L	0.57536	1.79	0.54753	D	0.999983	P	0.34462	0.454	B	0.34590	0.186	T	0.54370	-0.8304	10	0.46703	T	0.11	.	10.2947	0.43616	0.0705:0.1363:0.7932:0.0	.	702	Q9H3W5	LRRN3_HUMAN	V	702	ENSP00000312001:G702V;ENSP00000397312:G702V;ENSP00000412417:G702V	ENSP00000312001:G702V	G	+	2	0	LRRN3	110552169	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.996000	0.70639	1.482000	0.48325	0.591000	0.81541	GGT		0.353	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		3	20	1	0	6.4e-05	0.004672	7.23478e-05	3	20				
PLXNA4	91584	broad.mit.edu	37	7	132193285	132193285	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:132193285C>A	ENST00000359827.3	-	2	1130	c.168G>T	c.(166-168)gtG>gtT	p.V56V	PLXNA4_ENST00000321063.4_Silent_p.V56V|PLXNA4_ENST00000378539.5_Silent_p.V56V|PLXNA4_ENST00000423507.2_Silent_p.V56V			Q9HCM2	PLXA4_HUMAN	plexin A4	56	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V56V(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCTCTCATCCACCACCAGGT	0.592																																							uc003vra.3		NA																	8	Substitution - coding silent(8)		lung(8)	ovary(1)	1						c.(166-168)GTG>GTT		plexin A4 isoform 1							53.0	56.0	55.0					7																	132193285		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193285C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.168G>T	7.37:g.132193285C>A						PLXNA4_uc003vrc.2_Silent_p.V56V|PLXNA4_uc003vrb.2_Silent_p.V56V	p.V56V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	397	-			56			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.168G>T	CCDS43646.1																																																																																				0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		39	91	1	0	1.59361e-14	0.006999	2.21967e-14	39	91				
LRGUK	136332	broad.mit.edu	37	7	133812255	133812255	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:133812255C>T	ENST00000285928.2	+	1	204	c.135C>T	c.(133-135)ccC>ccT	p.P45P	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	45						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.P45P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGTCTTTTCCCATGGGGCAGA	0.577																																							uc003vrm.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|skin(2)|kidney(1)	5						c.(133-135)CCC>CCT		leucine-rich repeats and guanylate kinase domain							93.0	91.0	92.0					7																	133812255		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133812255C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.135C>T	7.37:g.133812255C>T							p.P45P	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	151	+			45					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.135C>T	CCDS5830.1																																																																																				0.577	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		79	165	0	0	0	0.01441	0	79	165				
HTR5A	3361	broad.mit.edu	37	7	154875952	154875952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:154875952G>A	ENST00000287907.2	+	2	1405	c.829G>A	c.(829-831)Gag>Aag	p.E277K	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	277					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.E277K(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CACGTGGCGGGAGCAGAAGGA	0.607																																							uc003wlu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(829-831)GAG>AAG		5-hydroxytryptamine receptor 5A							110.0	87.0	95.0					7																	154875952		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875952G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.829G>A	7.37:g.154875952G>A	ENSP00000287907:p.Glu277Lys						p.E277K	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	893	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	277			Cytoplasmic (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.829G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576228	0.65878	.	.	ENSG00000157219	ENST00000287907	T	0.71579	-0.58	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.472128	0.23492	N	0.047585	T	0.77850	0.4192	L	0.47190	1.495	0.80722	D	1	D	0.57571	0.98	D	0.63957	0.92	T	0.72959	-0.4133	10	0.18710	T	0.47	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	277	P47898	5HT5A_HUMAN	K	277	ENSP00000287907:E277K	ENSP00000287907:E277K	E	+	1	0	HTR5A	154506885	1.000000	0.71417	0.344000	0.25628	0.072000	0.16883	9.438000	0.97539	2.274000	0.75844	0.655000	0.94253	GAG		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		43	54	0	0	0	0.01441	0	43	54				
CSMD1	64478	broad.mit.edu	37	8	2944626	2944626	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:2944626G>T	ENST00000520002.1	-	50	8025	c.7470C>A	c.(7468-7470)ctC>ctA	p.L2490L	CSMD1_ENST00000542608.1_Silent_p.L2489L|CSMD1_ENST00000602723.1_Silent_p.L2490L|CSMD1_ENST00000602557.1_Silent_p.L2490L|CSMD1_ENST00000537824.1_Silent_p.L2489L|CSMD1_ENST00000400186.3_Silent_p.L2490L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2490	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.L2218L(2)|p.L2489L(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCCTGGCAGAGTGGCGTGA	0.453																																							uc011kwk.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(7468-7470)CTC>CTA		CUB and Sushi multiple domains 1 precursor							86.0	86.0	86.0					8																	2944626		2015	4176	6191	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2944626G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7470C>A	8.37:g.2944626G>T						CSMD1_uc011kwj.1_Silent_p.L1819L|CSMD1_uc010lrg.2_Silent_p.L558L	p.L2490L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	49	7860	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2490			Sushi 14.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7470C>A		.	.	.	.	.	.	.	.	.	.	G	1.789	-0.480013	0.04383	.	.	ENSG00000183117	ENST00000335551	T	0.64991	-0.13	5.81	1.86	0.25419	.	0.336982	0.26677	N	0.023069	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49380	-0.8946	7	0.33940	T	0.23	.	6.5619	0.22491	0.0682:0.3899:0.4191:0.1227	.	.	.	.	M	1907	ENSP00000334828:L1907M	ENSP00000334828:L1907M	L	-	1	2	CSMD1	2932033	1.000000	0.71417	0.777000	0.31699	0.256000	0.26092	0.554000	0.23407	0.047000	0.15862	0.561000	0.74099	CTG		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	22	1	0	1.01871e-10	0.008871	1.34677e-10	19	22				
RP1L1	94137	broad.mit.edu	37	8	10467287	10467287	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:10467287G>T	ENST00000382483.3	-	4	4544	c.4321C>A	c.(4321-4323)Ccg>Acg	p.P1441T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1521					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P1441T(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGGGGCACGGCTCTGCAGAG	0.627																																							uc003wtc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4321-4323)CCG>ACG		retinitis pigmentosa 1-like 1							130.0	145.0	140.0					8																	10467287		1990	4159	6149	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467287G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4321C>A	8.37:g.10467287G>T	ENSP00000371923:p.Pro1441Thr						p.P1441T	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4550	-			1441					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4321C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	g	0.151	-1.091834	0.01858	.	.	ENSG00000183638	ENST00000382483	T	0.03920	3.76	4.51	1.48	0.22813	.	1.149520	0.06983	U	0.820304	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.45483	-0.9258	10	0.09084	T	0.74	-0.0087	5.86	0.18740	0.1077:0.3853:0.507:0.0	.	1441	A6NKC6	.	T	1441	ENSP00000371923:P1441T	ENSP00000371923:P1441T	P	-	1	0	RP1L1	10504697	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.277000	0.18734	1.071000	0.40834	0.306000	0.20318	CCG		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			250	481	1	0	1.45934e-97	0.01441	2.47454e-97	250	481				
XPO7	23039	broad.mit.edu	37	8	21853061	21853061	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:21853061G>T	ENST00000252512.9	+	21	2396	c.2296G>T	c.(2296-2298)Gcc>Tcc	p.A766S	XPO7_ENST00000433566.4_Missense_Mutation_p.A767S|XPO7_ENST00000434536.1_Missense_Mutation_p.A775S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	766					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.A766S(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCATGATCCAGCCTGTACTAC	0.448																																							uc003xaa.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(2296-2298)GCC>TCC		exportin 7 isoform b							88.0	81.0	83.0					8																	21853061		1944	4141	6085	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21853061G>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2296G>T	8.37:g.21853061G>T	ENSP00000252512:p.Ala766Ser					XPO7_uc010lti.2_Missense_Mutation_p.A775S|XPO7_uc010ltk.2_Missense_Mutation_p.A767S	p.A766S	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	21	2398	+			766					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2296G>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803399	0.50315	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566;ENST00000517551	T;T;T	0.65916	-0.18;-0.18;-0.18	5.58	5.58	0.84498	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	L	0.41710	1.295	0.80722	D	1	B;B;B	0.16396	0.017;0.008;0.008	B;B;B	0.16289	0.009;0.005;0.015	T	0.48692	-0.9013	10	0.18276	T	0.48	-14.1389	19.5831	0.95478	0.0:0.0:1.0:0.0	.	767;775;766	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	S	775;766;767;76	ENSP00000404853:A775S;ENSP00000252512:A766S;ENSP00000410249:A767S	ENSP00000252512:A766S	A	+	1	0	XPO7	21909007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.711000	0.98735	2.803000	0.96430	0.551000	0.68910	GCC		0.448	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		13	28	1	0	0.000219431	0.020292	0.00023938	13	28				
SNTG1	54212	broad.mit.edu	37	8	51617263	51617264	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:51617263_51617264GG>TT	ENST00000522124.1	+	16	1803_1804	c.1142_1143GG>TT	c.(1141-1143)tGG>tTT	p.W381F	SNTG1_ENST00000517473.1_Missense_Mutation_p.W381F|SNTG1_ENST00000518864.1_Missense_Mutation_p.W381F|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	381	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.W381F(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTCGCCCAGTGGGAAAGAGCCT	0.554																																							uc010lxy.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)	5						c.(1141-1143)TGG>TTT		syntrophin, gamma 1																																				SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617263_51617264GG>TT	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		Exception_encountered	8.37:g.51617263_51617264delinsTT	ENSP00000429842:p.Trp381Phe					SNTG1_uc003xqs.1_Missense_Mutation_p.W381F|SNTG1_uc010lxz.1_Missense_Mutation_p.W381F|SNTG1_uc011ldl.1_RNA	p.W381F	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			17	1513_1514	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	381			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	DNP	ENST00000522124.1	37	c.1142_1143GG>TT	CCDS6147.1																																																																																				0.554	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			17	55	0	0	0	0.004672	0	17	55				
GEM	2669	broad.mit.edu	37	8	95272446	95272446	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:95272446C>A	ENST00000297596.2	-	2	550	c.286G>T	c.(286-288)Gca>Tca	p.A96S	GEM_ENST00000396194.2_Missense_Mutation_p.A96S	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	96					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.A96S(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGCACACCTGCAAAGATGTTG	0.592																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygj.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(286-288)GCA>TCA		GTP-binding mitogen-induced T-cell protein							96.0	92.0	93.0					8																	95272446		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95272446C>A		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.286G>T	8.37:g.95272446C>A	ENSP00000297596:p.Ala96Ser					GEM_uc003ygi.2_Missense_Mutation_p.A96S	p.A96S	NM_005261	NP_005252	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		2	535	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	96					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.286G>T	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332397	0.95733	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.76839	-1.05;-1.05	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.053500	0.64402	D	0.000001	D	0.84566	0.5500	L	0.48877	1.53	0.80722	D	1	D	0.57571	0.98	D	0.66196	0.942	D	0.84923	0.0855	10	0.52906	T	0.07	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	96	P55040	GEM_HUMAN	S	96	ENSP00000379497:A96S;ENSP00000297596:A96S	ENSP00000297596:A96S	A	-	1	0	GEM	95341622	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.701000	0.68325	2.473000	0.83533	0.655000	0.94253	GCA		0.592	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		67	147	1	0	8.20758e-20	0.01441	1.19662e-19	67	147				
ERICH5	203111	broad.mit.edu	37	8	99102146	99102146	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:99102146C>T	ENST00000318528.3	+	2	1260	c.901C>T	c.(901-903)Cct>Tct	p.P301S	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		301	Glu-rich.							p.P301S(2)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GCAGATTCAACCTGAAGGAAT	0.438																																							uc003yih.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(901-903)CCT>TCT		hypothetical protein LOC203111							115.0	104.0	108.0					8																	99102146		2203	4300	6503	SO:0001583	missense	203111							g.chr8:99102146C>T																												ENST00000318528.3:c.901C>T	8.37:g.99102146C>T	ENSP00000315614:p.Pro301Ser						p.P301S	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	1049	+	Breast(36;2.31e-06)		301			Glu-rich.		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.901C>T	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	2.394	-0.339222	0.05243	.	.	ENSG00000177459	ENST00000318528	T	0.24538	1.85	4.8	-0.189	0.13260	.	1.428410	0.04275	N	0.342892	T	0.19287	0.0463	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.17098	0.017	T	0.23619	-1.0183	10	0.17832	T	0.49	-0.1823	5.5508	0.17089	0.1316:0.5439:0.0:0.3245	.	301	Q6P6B1	CH047_HUMAN	S	301	ENSP00000315614:P301S	ENSP00000315614:P301S	P	+	1	0	C8orf47	99171322	0.001000	0.12720	0.037000	0.18230	0.004000	0.04260	0.361000	0.20267	-0.137000	0.11455	-2.185000	0.00314	CCT		0.438	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			47	87	0	0	0	0.01441	0	47	87				
ADCY8	114	broad.mit.edu	37	8	131792870	131792870	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:131792870G>A	ENST00000286355.5	-	18	5614	c.3522C>T	c.(3520-3522)gtC>gtT	p.V1174V	ADCY8_ENST00000377928.3_Silent_p.V1043V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1174					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.V1174V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGTTGGGTTGGACTCTTCCCA	0.522										HNSCC(32;0.087)																													uc003ytd.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3520-3522)GTC>GTT		adenylate cyclase 8							184.0	194.0	191.0					8																	131792870		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792870G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3522C>T	8.37:g.131792870G>A		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.V1043V	p.V1174V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3778	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1174			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.3522C>T	CCDS6363.1																																																																																				0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			59	125	0	0	0	0.01441	0	59	125				
PDCD1LG2	80380	broad.mit.edu	37	9	5522564	5522564	+	Silent	SNP	A	A	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr9:5522564A>C	ENST00000397747.3	+	2	266	c.18A>C	c.(16-18)ctA>ctC	p.L6L	PDCD1LG2_ENST00000397745.2_Silent_p.L6L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	6					immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L6L(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TCCTCCTGCTAATGTTGAGCC	0.443																																							uc003zjg.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)CTA>CTC		programmed cell death 1 ligand 2 precursor							158.0	161.0	160.0					9																	5522564		2203	4300	6503	SO:0001819	synonymous_variant	80380				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5522564A>C	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.18A>C	9.37:g.5522564A>C						C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Silent_p.L6L|PDCD1LG2_uc011lmd.1_Silent_p.L6L|PDCD1LG2_uc010mhp.1_Silent_p.L6L|PDCD1LG2_uc010mho.1_Silent_p.L6L	p.L6L	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	2	291	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	6					Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Silent	SNP	ENST00000397747.3	37	c.18A>C	CCDS6465.1																																																																																				0.443	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		8	176	0	0	0	0.00308	0	8	176				
PTPRD	5789	broad.mit.edu	37	9	8528763	8528763	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr9:8528763C>A	ENST00000381196.4	-	12	912	c.369G>T	c.(367-369)agG>agT	p.R123S	PTPRD_ENST00000463477.1_Missense_Mutation_p.R123S|PTPRD_ENST00000540109.1_Missense_Mutation_p.R123S|PTPRD_ENST00000397617.3_Missense_Mutation_p.R123S|PTPRD_ENST00000356435.5_Missense_Mutation_p.R123S|PTPRD_ENST00000397606.3_Missense_Mutation_p.R123S|PTPRD_ENST00000397611.3_Missense_Mutation_p.R123S|PTPRD_ENST00000537002.1_Missense_Mutation_p.R123S|PTPRD_ENST00000360074.4_Missense_Mutation_p.R123S|PTPRD_ENST00000358503.5_Missense_Mutation_p.R123S|PTPRD_ENST00000355233.5_Missense_Mutation_p.R123S|PTPRD_ENST00000486161.1_Missense_Mutation_p.R123S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	123					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R123S(8)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGGAAGCCCCTGGGAATTT	0.468										TSP Lung(15;0.13)																													uc003zkk.2		NA																	8	Substitution - Missense(8)		lung(8)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(367-369)AGG>AGT		protein tyrosine phosphatase, receptor type, D							66.0	66.0	66.0					9																	8528763		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8528763C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.369G>T	9.37:g.8528763C>A	ENSP00000370593:p.Arg123Ser	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R123S|PTPRD_uc003zkq.2_Missense_Mutation_p.R123S|PTPRD_uc003zkr.2_Missense_Mutation_p.R123S|PTPRD_uc003zks.2_Missense_Mutation_p.R123S|PTPRD_uc003zkl.2_Missense_Mutation_p.R123S|PTPRD_uc003zkm.2_Missense_Mutation_p.R123S|PTPRD_uc003zkn.2_Missense_Mutation_p.R123S|PTPRD_uc003zko.2_Missense_Mutation_p.R123S|PTPRD_uc003zkt.1_Missense_Mutation_p.R123S	p.R123S	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	14	1080	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	123			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.369G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	2.800	-0.249392	0.05867	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.70516	0.61;0.61;0.64;0.69;0.77;0.9;0.64;0.54;0.61;0.77;0.91;-0.49	5.81	3.96	0.45880	.	0.163844	0.53938	D	0.000057	T	0.35970	0.0950	N	0.01505	-0.83	0.49798	D	0.999829	B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.001;0.001;0.001;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.09377	0.001;0.004;0.002;0.004;0.002;0.001;0.004;0.001;0.0;0.001	T	0.06844	-1.0804	9	.	.	.	.	5.0068	0.14291	0.2506:0.533:0.0:0.2164	.	123;123;123;123;123;123;123;123;123;123	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	123	ENSP00000370593:R123S;ENSP00000348812:R123S;ENSP00000353187:R123S;ENSP00000351293:R123S;ENSP00000347373:R123S;ENSP00000380741:R123S;ENSP00000380735:R123S;ENSP00000440515:R123S;ENSP00000438164:R123S;ENSP00000417093:R123S;ENSP00000380731:R123S;ENSP00000417661:R123S	.	R	-	3	2	PTPRD	8518763	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.209000	0.17435	0.784000	0.33661	0.655000	0.94253	AGG		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			9	38	1	0	1.08611e-07	0.010729	1.33412e-07	9	38				
NUP188	23511	broad.mit.edu	37	9	131765095	131765095	+	Splice_Site	SNP	G	G	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr9:131765095G>C	ENST00000372577.2	+	37	4158		c.e37-1		RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTGTATCTTAGACACCTAGTG	0.557																																							uc004bws.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.e37-1		nucleoporin 188kDa							82.0	78.0	79.0					9																	131765095		2203	4300	6503	SO:0001630	splice_region_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131765095G>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4138-1G>C	9.37:g.131765095G>C						NUP188_uc004bwu.2_Splice_Site_p.T723_splice	p.T1380_splice	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			37	4160	+								Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	37	c.4138_splice	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767986	0.31320	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3319	0.94293	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP188	130804916	1.000000	0.71417	0.992000	0.48379	0.208000	0.24298	7.943000	0.87716	2.815000	0.96918	0.561000	0.74099	.		0.557	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Intron	5	191	0	0	0	0.014758	0	5	191				
IL13RA2	3598	broad.mit.edu	37	X	114242517	114242517	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chrX:114242517C>A	ENST00000371936.1	-	9	1224	c.975G>T	c.(973-975)tgG>tgT	p.W325C	IL13RA2_ENST00000243213.1_Missense_Mutation_p.W325C			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	325	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.W325C(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTTTATCACTCCACTCACTCC	0.338																																							uc004epx.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(973-975)TGG>TGT		interleukin 13 receptor, alpha 2 precursor							224.0	192.0	203.0					X																	114242517		2203	4300	6503	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114242517C>A	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.975G>T	X.37:g.114242517C>A	ENSP00000361004:p.Trp325Cys					IL13RA2_uc010nqd.1_Missense_Mutation_p.W325C	p.W325C	NM_000640	NP_000631	Q14627	I13R2_HUMAN			8	1100	-			325			Extracellular (Potential).|WSXWS motif.|Fibronectin type-III 3.		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.975G>T	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	c	13.88	2.368550	0.42003	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	T;T	0.73897	-0.79;-0.79	4.1	3.24	0.37175	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83003	-0.0176	10	0.87932	D	0	-6.2865	6.9845	0.24721	0.0:0.8709:0.0:0.1291	.	325	Q14627	I13R2_HUMAN	C	325	ENSP00000361004:W325C;ENSP00000243213:W325C	ENSP00000243213:W325C	W	-	3	0	IL13RA2	114148773	1.000000	0.71417	0.992000	0.48379	0.905000	0.53344	4.250000	0.58772	0.865000	0.35603	0.540000	0.68198	TGG		0.338	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		16	16	1	0	9.16793e-09	0.00499	1.13508e-08	16	16				
GLUD2	2747	broad.mit.edu	37	X	120182373	120182374	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chrX:120182373_120182374GG>TT	ENST00000328078.1	+	1	912_913	c.835_836GG>TT	c.(835-837)GGg>TTg	p.G279L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	279					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.G279L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TGTCTTCCATGGGATTGAAAAC	0.436																																							uc004eto.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(835-837)GGG>TTG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)																																			SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182373_120182374GG>TT	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	Exception_encountered	X.37:g.120182373_120182374delinsTT	ENSP00000327589:p.Gly279Leu						p.G279L	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	912_913	+			279					B2R8G0|Q9UDQ4	Missense_Mutation	DNP	ENST00000328078.1	37	c.835_836GG>TT	CCDS14603.1																																																																																				0.436	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		69	67	0	0	0	0.004672	0	69	67				
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	RNA	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chrX:155254706C>T	ENST00000461007.1	+	0	3622				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637													c|||	392	0.0782748	0.0121	0.2233	5008	,	,		28320	0.0615		0.1352	False		,,,				2504	0.0235						uc004fnx.3		NA																	2	Substitution - Missense(2)		kidney(2)		NA						c.(601-603)ACG>ATG		WAS protein family homolog 1																																						0							g.chrX:155254706C>T	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254706C>T							p.T201M	NM_182905	NP_878908					8	1056	+								A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37	c.602C>T		.	.	.	.	.	.	.	.	.	.	c	13.63	2.293922	0.40594	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.155800	0.56097	N	0.000022	T	0.38983	0.1061	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28586	-1.0039	6	0.62326	D	0.03	-19.9253	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	M	415;384	.	ENSP00000285718:T384M	T	+	2	0	WASH6P	154907900	0.648000	0.27313	0.679000	0.29978	0.260000	0.26232	2.495000	0.45337	0.418000	0.25898	0.171000	0.16805	ACG		0.637	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	8	0	0	0	0.014758	0	4	8				
OR2M3	127062	broad.mit.edu	37	1	248367162	248367162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:248367162delG	ENST00000456743.1	+	1	831	c.793delG	c.(793-795)gatfs	p.D265fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCACATCTGATCGCTCCCC	0.502																																							uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(793-795)GATfs		olfactory receptor, family 2, subfamily M,							191.0	174.0	180.0					1																	248367162		2203	4300	6503	SO:0001589	frameshift_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367162delG		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.793delG	1.37:g.248367162delG	ENSP00000389625:p.Asp265fs						p.D265fs	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	793	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		265			Extracellular (Potential).		B9EH06|Q6IEY0	Frame_Shift_Del	DEL	ENST00000456743.1	37	c.793delG	CCDS31107.1																																																																																				0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		53	128	NA	NA	NA	NA	NA	53	128	---	---	---	---
GNS	2799	broad.mit.edu	37	12	65152963	65152968	+	In_Frame_Del	DEL	CCAGCA	CCAGCA	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	CCAGCA	CCAGCA	-	-	CCAGCA	CCAGCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:65152963_65152968delCCAGCA	ENST00000258145.3	-	1	259_264	c.89_94delTGCTGG	c.(88-96)gtgctgggc>ggc	p.VL30del	GNS_ENST00000542058.1_In_Frame_Del_p.VL30del|snoU13_ENST00000458789.1_RNA|GNS_ENST00000543646.1_In_Frame_Del_p.VL30del|RP11-629N8.3_ENST00000434563.3_RNA	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	30					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AGGCAGCCGCCCAGCACCAGCAGTAG	0.723																																							uc001ssg.3		NA																	0				central_nervous_system(1)	1						c.(88-96)GTGCTGGGC>GGC		glucosamine (N-acetyl)-6-sulfatase precursor																																				SO:0001651	inframe_deletion	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65152963_65152968delCCAGCA		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.89_94delTGCTGG	12.37:g.65152969_65152974delCCAGCA	ENSP00000258145:p.Val30_Leu31del					GNS_uc010ssq.1_In_Frame_Del_p.VL30del|GNS_uc010ssr.1_In_Frame_Del_p.VL30del	p.VL30del	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	1	259_264	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		30_31					B4DYH8|Q53F05	In_Frame_Del	DEL	ENST00000258145.3	37	c.89_94delTGCTGG	CCDS8970.1																																																																																				0.723	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			3	4	NA	NA	NA	NA	NA	3	4	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23889920	23889920	+	Frame_Shift_Del	DEL	G	G	-	rs376987796		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:23889920delG	ENST00000532292.1	-	1	1255	c.1161delC	c.(1159-1161)cccfs	p.P387fs		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	270	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACACAACTACGGGCAGAGAGC	0.642																																							uc001ywj.3		NA																	0					0						c.(1159-1161)CCCfs		MAGE-like protein 2							35.0	36.0	36.0					15																	23889920		1914	4130	6044	SO:0001589	frameshift_variant	54551							g.chr15:23889920delG	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1161delC	15.37:g.23889920delG	ENSP00000433433:p.Pro387fs						p.P387fs	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1256	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Frame_Shift_Del	DEL	ENST00000532292.1	37	c.1161delC																																																																																					0.642	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		21	77	NA	NA	NA	NA	NA	21	77	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93489385	93489389	+	Frame_Shift_Del	DEL	ATTGC	ATTGC	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	ATTGC	ATTGC	-	-	ATTGC	ATTGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:93489385_93489389delATTGC	ENST00000394196.4	+	12	2384_2388	c.1316_1320delATTGC	c.(1315-1320)aattgcfs	p.NC439fs	CHD2_ENST00000420239.2_Frame_Shift_Del_p.NC439fs|CHD2_ENST00000536619.1_Frame_Shift_Del_p.NC452fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.NC439fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	439	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAATTCCAGAATTGCATTGACAGCT	0.429																																							uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(1315-1320)AATTGCfs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489385_93489389delATTGC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1316_1320delATTGC	15.37:g.93489385_93489389delATTGC	ENSP00000377747:p.Asn439fs					CHD2_uc002bsn.2_Frame_Shift_Del_p.N439fs|CHD2_uc002bso.1_Frame_Shift_Del_p.N439fs|CHD2_uc010urb.1_Frame_Shift_Del_p.N452fs|CHD2_uc010bof.1_RNA	p.N439fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	1891_1895	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		439_440			Chromo 2.		C6G482|Q96IP5	Frame_Shift_Del	DEL	ENST00000394196.4	37	c.1316_1320delATTGC	CCDS10374.2																																																																																				0.429	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		34	111	NA	NA	NA	NA	NA	34	111	---	---	---	---
OR11H1	81061	broad.mit.edu	37	22	16449040	16449040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:16449040delG	ENST00000252835.4	-	1	765	c.765delC	c.(763-765)accfs	p.T255fs		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GAGACCCACAGGTAGAGAAGG	0.443																																							uc011agd.1		NA																	0					0						c.(763-765)ACCfs		olfactory receptor, family 11, subfamily H,							82.0	82.0	82.0					22																	16449040		2198	4290	6488	SO:0001589	frameshift_variant	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449040delG	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.765delC	22.37:g.16449040delG	ENSP00000252835:p.Thr255fs						p.T255fs	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	765	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	255			Cytoplasmic (Potential).		Q6IEX0|Q96R32	Frame_Shift_Del	DEL	ENST00000252835.4	37	c.765delC	CCDS33594.1																																																																																				0.443	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		32	62	NA	NA	NA	NA	NA	32	62	---	---	---	---
