#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
LRRC7	57554	broad.mit.edu	37	1	70482195	70482195	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr1:70482195C>A	ENST00000035383.5	+	12	1214	c.1184C>A	c.(1183-1185)gCt>gAt	p.A395D	LRRC7_ENST00000310961.5_Missense_Mutation_p.A400D|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	395						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAGCTTGCAGCTTTGTGGCTT	0.294																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1183-1185)GCT>GAT		leucine rich repeat containing 7							100.0	102.0	102.0					1																	70482195		2201	4294	6495	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70482195C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1184C>A	1.37:g.70482195C>A	ENSP00000035383:p.Ala395Asp					LRRC7_uc009wbg.2_5'UTR	p.A395D	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			12	1214	+			395			LRR 17.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1184C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916973	0.92249	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.24908	1.98;1.83	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.50709	-0.8796	10	0.87932	D	0	.	18.5774	0.91159	0.0:1.0:0.0:0.0	.	395	Q96NW7	LRRC7_HUMAN	D	400;395;218	ENSP00000309245:A400D;ENSP00000035383:A395D	ENSP00000035383:A395D	A	+	2	0	LRRC7	70254783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.516000	0.67055	2.688000	0.91661	0.650000	0.86243	GCT		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		7	38	1	0	0.000157383	0.00308	0.00032192	7	38				
KCNA2	3737	broad.mit.edu	37	1	111145958	111145958	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr1:111145958T>C	ENST00000485317.1	-	3	2120	c.1447A>G	c.(1447-1449)Acc>Gcc	p.T483A	KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Missense_Mutation_p.T483A|KCNA2_ENST00000440270.1_Missense_Mutation_p.T483A|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	483					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TTAGCCAAGGTACAGTTGGCT	0.383																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	0				ovary(1)	1						c.(1447-1449)ACC>GCC		potassium voltage-gated channel, shaker-related							213.0	206.0	208.0					1																	111145958		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111145958T>C	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1447A>G	1.37:g.111145958T>C	ENSP00000433109:p.Thr483Ala					KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.T483A	p.T483A	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1943	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	483					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.1447A>G	CCDS827.1	.	.	.	.	.	.	.	.	.	.	T	9.857	1.195230	0.22037	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.96334	-3.98;-3.98;-3.98	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	L	0.39467	1.215	0.58432	D	0.999999	B	0.20164	0.042	B	0.23150	0.044	D	0.86326	0.1695	10	0.09590	T	0.72	.	14.7968	0.69884	0.0:0.0:0.0:1.0	.	483	P16389	KCNA2_HUMAN	A	483	ENSP00000433109:T483A;ENSP00000415257:T483A;ENSP00000314520:T483A	ENSP00000314520:T483A	T	-	1	0	KCNA2	110947481	1.000000	0.71417	0.974000	0.42286	0.908000	0.53690	6.216000	0.72212	1.977000	0.57605	0.533000	0.62120	ACC		0.383	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		22	59	0	0	0	0.001882	0	22	59				
INSRR	3645	broad.mit.edu	37	1	156814587	156814587	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr1:156814587T>G	ENST00000368195.3	-	13	2882	c.2486A>C	c.(2485-2487)aAg>aCg	p.K829T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	829	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K829R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACACTGTTCTTGCTGGAGGC	0.592																																							uc010pht.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(2485-2487)AAG>ACG		insulin receptor-related receptor precursor							67.0	67.0	67.0					1																	156814587		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156814587T>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2486A>C	1.37:g.156814587T>G	ENSP00000357178:p.Lys829Thr					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.K829T	NM_014215	NP_055030	P14616	INSRR_HUMAN			13	2740	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		829			Fibronectin type-III 3.|Extracellular (Potential).		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2486A>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	T	7.848	0.723375	0.15439	.	.	ENSG00000027644	ENST00000368195	T	0.55930	0.49	4.2	3.06	0.35304	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.175198	0.27126	N	0.020819	T	0.21468	0.0517	.	.	.	0.41565	D	0.988656	B	0.24186	0.099	B	0.35312	0.2	T	0.04678	-1.0934	9	0.15952	T	0.53	.	7.4849	0.27427	0.0:0.115:0.0:0.885	.	829	P14616	INSRR_HUMAN	T	829	ENSP00000357178:K829T	ENSP00000357178:K829T	K	-	2	0	INSRR	155081211	0.998000	0.40836	0.998000	0.56505	0.550000	0.35303	3.465000	0.53064	0.655000	0.30866	0.383000	0.25322	AAG		0.592	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		3	48	0	0	0	0.004672	0	3	48				
FCRL5	83416	broad.mit.edu	37	1	157490931	157490931	+	Silent	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr1:157490931C>T	ENST00000361835.3	-	11	2548	c.2391G>A	c.(2389-2391)tcG>tcA	p.S797S	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.S797S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGAGGGGGACGACCTATTTC	0.592																																							uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2389-2391)TCG>TCA		Fc receptor-like 5							75.0	81.0	79.0					1																	157490931		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490931C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2391G>A	1.37:g.157490931C>T						FCRL5_uc009wsm.2_Silent_p.S797S	p.S797S	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			11	2549	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	797			Extracellular (Potential).|Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2391G>A	CCDS1165.1																																																																																				0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		15	113	0	0	0	0.00499	0	15	113				
SPTA1	6708	broad.mit.edu	37	1	158614140	158614141	+	Missense_Mutation	DNP	CG	CG	TT	rs201399968		TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr1:158614140_158614141CG>TT	ENST00000368147.4	-	30	4420_4421	c.4240_4241CG>AA	c.(4240-4242)CGt>AAt	p.R1414N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1414					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)			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)					GGAATTCTCACGTGCCACCATC	0.47																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4240-4242)CGT>AAT		spectrin, alpha, erythrocytic 1																																				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.chr1:158614140_158614141CG>TT	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.4240_4241delinsTT	1.37:g.158614140_158614141delinsTT	ENSP00000357129:p.Arg1414Asn						p.R1414N	NM_003126	NP_003117	P02549	SPTA1_HUMAN			30	4439_4440	-	all_hematologic(112;0.0378)		1414			Spectrin 14.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	DNP	ENST00000368147.4	37	c.4240_4241CG>AA	CCDS41423.1																																																																																				0.470	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	61	0	0	0	0.004672	0	4	61				
RALGPS2	55103	broad.mit.edu	37	1	178790800	178790800	+	Silent	SNP	A	A	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr1:178790800A>G	ENST00000367635.3	+	7	779	c.441A>G	c.(439-441)ctA>ctG	p.L147L	RALGPS2_ENST00000367634.2_Silent_p.L147L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	147	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTCTGGCCTACAGAGTGCCC	0.388																																							uc001glz.2		NA																	0					0						c.(439-441)CTA>CTG		Ral GEF with PH domain and SH3 binding motif 2							106.0	109.0	108.0					1																	178790800		2203	4300	6503	SO:0001819	synonymous_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178790800A>G	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.441A>G	1.37:g.178790800A>G						RALGPS2_uc001gly.1_Silent_p.L147L|RALGPS2_uc010pnb.1_Silent_p.L147L	p.L147L	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			7	779	+			147			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	ENST00000367635.3	37	c.441A>G	CCDS1325.1																																																																																				0.388	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		34	80	0	0	0	0.004878	0	34	80				
SUV39H2	79723	broad.mit.edu	37	10	14939251	14939251	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr10:14939251A>G	ENST00000354919.6	+	3	584	c.584A>G	c.(583-585)gAt>gGt	p.D195G	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.D135G	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	195	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TCATGCACAGATTGCTTCTTT	0.393																																							uc001inh.2		NA																	0				breast(2)|ovary(1)	3						c.(403-405)GAT>GGT		suppressor of variegation 3-9 homolog 2							146.0	141.0	143.0					10																	14939251		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939251A>G	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.584A>G	10.37:g.14939251A>G	ENSP00000346997:p.Asp195Gly					SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Missense_Mutation_p.D135G|SUV39H2_uc001inj.2_Missense_Mutation_p.D135G	p.D135G	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN			2	460	+			195			Pre-SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.404A>G	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284163	0.40394	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.89485	-2.52;-2.52;-2.52	5.86	5.86	0.93980	Pre-SET domain (2);	0.062472	0.64402	D	0.000004	D	0.85583	0.5730	L	0.42744	1.35	0.58432	D	0.999999	B	0.02656	0.0	B	0.10450	0.005	T	0.80779	-0.1230	10	0.38643	T	0.18	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	195	Q9H5I1	SUV92_HUMAN	G	195;135;135	ENSP00000346997:D195G;ENSP00000319208:D135G;ENSP00000392201:D135G	ENSP00000319208:D135G	D	+	2	0	SUV39H2	14979257	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.090000	0.71397	2.367000	0.80283	0.528000	0.53228	GAT		0.393	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		9	81	0	0	0	0.006214	0	9	81				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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>GAT		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>T	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>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	p.G12D	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>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	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		4	17	0	0	0	0.001168	0	4	17				
ADCY6	112	broad.mit.edu	37	12	49166147	49166147	+	Silent	SNP	C	C	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr12:49166147C>A	ENST00000307885.4	-	17	3412	c.2718G>T	c.(2716-2718)gcG>gcT	p.A906A	ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000357869.3_Silent_p.A853A|ADCY6_ENST00000550422.1_Silent_p.A853A|MIR4701_ENST00000583094.1_RNA	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	906					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACAGCGCCAGCGCAAACACCA	0.562																																							uc001rsh.3		NA																	0					0						c.(2716-2718)GCG>GCT		adenylate cyclase 6 isoform a							76.0	74.0	75.0					12																	49166147		2203	4300	6503	SO:0001819	synonymous_variant	112				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	ATP binding|metal ion binding	g.chr12:49166147C>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2718G>T	12.37:g.49166147C>A						ADCY6_uc001rsj.3_Silent_p.A906A|ADCY6_uc001rsi.3_Silent_p.A853A|ADCY6_uc010slw.1_Silent_p.A137A	p.A906A	NM_015270	NP_056085	O43306	ADCY6_HUMAN			17	3378	-			906			Helical; (Potential).		Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.2718G>T	CCDS8767.1																																																																																				0.562	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		6	60	1	0	3.59834e-05	0.001168	7.59024e-05	6	60				
HOXC11	3227	broad.mit.edu	37	12	54369022	54369022	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr12:54369022T>A	ENST00000546378.1	+	2	856	c.740T>A	c.(739-741)cTg>cAg	p.L247Q	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.T248T			O43248	HXC11_HUMAN	homeobox C11	247					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						ATCCGGGAACTGGAGCGAGAG	0.567			T	NUP98	AML																																		uc001sem.2		NA		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(739-741)CTG>CAG		homeobox C11							44.0	49.0	47.0					12																	54369022		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54369022T>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.740T>A	12.37:g.54369022T>A	ENSP00000446680:p.Leu247Gln						p.L247Q	NM_014212	NP_055027	O43248	HXC11_HUMAN			2	856	+			247			Homeobox.		A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.740T>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460547	0.43736	.	.	ENSG00000123388	ENST00000546378	D	0.99586	-6.23	4.41	3.23	0.37069	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.084010	0.49916	N	0.000139	D	0.99722	0.9892	H	0.99582	4.64	0.80722	D	1	B	0.33964	0.434	P	0.49999	0.628	D	0.97857	1.0278	10	0.87932	D	0	.	9.6227	0.39732	0.1567:0.0:0.0:0.8433	.	247	O43248	HXC11_HUMAN	Q	247	ENSP00000446680:L247Q	ENSP00000446680:L247Q	L	+	2	0	HOXC11	52655289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.918000	0.87506	0.646000	0.30693	0.454000	0.30748	CTG		0.567	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			8	47	0	0	0	0.004482	0	8	47				
SPERT	220082	broad.mit.edu	37	13	46276977	46276977	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr13:46276977T>C	ENST00000310521.1	+	2	223	c.143T>C	c.(142-144)gTg>gCg	p.V48A	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	48						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCAATCAGTGTGGTTCTACCT	0.413																																							uc001van.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(142-144)GTG>GCG		spermatid associated							57.0	57.0	57.0					13																	46276977		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276977T>C	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.143T>C	13.37:g.46276977T>C	ENSP00000309189:p.Val48Ala					SPERT_uc001vao.2_5'Flank	p.V48A	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	223	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	48					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.143T>C	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449075	0.43531	.	.	ENSG00000174015	ENST00000310521	T	0.55588	0.51	4.46	3.28	0.37604	.	0.191295	0.25795	N	0.028242	T	0.34077	0.0885	L	0.36672	1.1	0.80722	D	1	B	0.30146	0.27	B	0.28139	0.086	T	0.06215	-1.0839	10	0.08599	T	0.76	.	6.7306	0.23381	0.0:0.1042:0.0:0.8958	.	48	Q8NA61	SPERT_HUMAN	A	48	ENSP00000309189:V48A	ENSP00000309189:V48A	V	+	2	0	SPERT	45174978	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.770000	0.38532	1.026000	0.39733	0.533000	0.62120	GTG		0.413	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		8	27	0	0	0	0.004482	0	8	27				
DHRS2	10202	broad.mit.edu	37	14	24108035	24108035	+	Splice_Site	SNP	G	G	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr14:24108035G>C	ENST00000250383.6	+	2	438		c.e2-1		DHRS2_ENST00000344777.7_Splice_Site|DHRS2_ENST00000553896.1_Splice_Site	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2						C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTTTCCCCCAGGCCTGATTCA	0.517																																							uc001wkt.3		NA																	0				large_intestine(1)|ovary(1)	2						c.e2-1		dehydrogenase/reductase member 2 isoform 1							99.0	99.0	99.0					14																	24108035		2203	4300	6503	SO:0001630	splice_region_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108035G>C		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.-38-1G>C	14.37:g.24108035G>C						DHRS2_uc010aku.1_Splice_Site|DHRS2_uc001wku.3_Splice_Site|DHRS2_uc010akv.2_Splice_Site|DHRS2_uc001wkv.3_Splice_Site		NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	2	410	+								D3DS54|Q53GS4|Q7Z789|Q9H2R2	Splice_Site	SNP	ENST00000250383.6	37	c.-37_splice	CCDS9604.1																																																																																				0.517	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	Intron	8	80	0	0	0	0.004482	0	8	80				
PCNX	22990	broad.mit.edu	37	14	71555974	71555974	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr14:71555974T>A	ENST00000304743.2	+	30	5950	c.5504T>A	c.(5503-5505)aTt>aAt	p.I1835N	PCNX_ENST00000238570.5_Missense_Mutation_p.I1763N|PCNX_ENST00000439984.3_Missense_Mutation_p.I1724N	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1835						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTCTTCAATTCGAGATGAA	0.363																																							uc001xmo.2		NA																	0				ovary(1)	1						c.(5503-5505)ATT>AAT		pecanex-like 1							190.0	179.0	183.0					14																	71555974		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71555974T>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5504T>A	14.37:g.71555974T>A	ENSP00000304192:p.Ile1835Asn					PCNX_uc010are.1_Missense_Mutation_p.I1724N|PCNX_uc010arf.1_Missense_Mutation_p.I623N	p.I1835N	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	30	5950	+			1835					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5504T>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.44|18.44	3.624774|3.624774	0.66901|0.66901	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.09630	.|3.4;3.4;2.96	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.159898	.|0.56097	.|D	.|0.000025	T|T	0.09335|0.09335	0.0230|0.0230	N|N	0.03608|0.03608	-0.345|-0.345	0.28460|0.28460	N|N	0.915932|0.915932	.|P;B;B	.|0.35481	.|0.504;0.397;0.024	.|B;P;B	.|0.45660	.|0.319;0.489;0.021	T|T	0.36866|0.36866	-0.9730|-0.9730	5|10	.|0.28530	.|T	.|0.3	.|.	16.3948|16.3948	0.83586|0.83586	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1763;1724;1835	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	I|N	822|1835;1763;1724	.|ENSP00000304192:I1835N;ENSP00000238570:I1763N;ENSP00000396617:I1724N	.|ENSP00000238570:I1763N	F|I	+|+	1|2	0|0	PCNX|PCNX	70625727|70625727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.817000|4.817000	0.62650|0.62650	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.363	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	44	0	0	0	0.000248	0	4	44				
POMT2	29954	broad.mit.edu	37	14	77743800	77743800	+	Silent	SNP	A	A	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr14:77743800A>G	ENST00000261534.4	-	21	2374	c.2172T>C	c.(2170-2172)gcT>gcC	p.A724A		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	724						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CCATCCCGTAAGCCAGAGGGT	0.567																																							uc001xti.2		NA																	0				ovary(1)	1						c.(2170-2172)GCT>GCC		protein-O-mannosyltransferase 2							97.0	96.0	97.0					14																	77743800		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77743800A>G	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.2172T>C	14.37:g.77743800A>G						POMT2_uc001xth.1_Silent_p.A422A	p.A724A	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	21	2373	-			724					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.2172T>C	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	A	8.924	0.961896	0.18583	.	.	ENSG00000009830	ENST00000556394	.	.	.	5.88	0.943	0.19531	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23476	-1.0187	4	.	.	.	-10.8146	1.1325	0.01748	0.3464:0.1652:0.3291:0.1593	.	.	.	.	P	76	.	.	L	-	2	0	POMT2	76813553	1.000000	0.71417	0.996000	0.52242	0.701000	0.40568	1.378000	0.34328	0.138000	0.18790	-0.371000	0.07208	CTT		0.567	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		3	62	0	0	0	0.000248	0	3	62				
ABCC1	4363	broad.mit.edu	37	16	16208863	16208863	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr16:16208863T>C	ENST00000399410.3	+	23	3495	c.3320T>C	c.(3319-3321)gTt>gCt	p.V1107A	ABCC1_ENST00000399408.2_Missense_Mutation_p.V1117A|ABCC1_ENST00000349029.5_Missense_Mutation_p.V992A|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1107A|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1051A|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1048A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1107	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GCCTGCATCGTTATCCTGCTG	0.567																																							uc010bvi.2		NA																	0				ovary(4)	4						c.(3319-3321)GTT>GCT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						62.0	68.0	66.0					16																	16208863		2154	4271	6425	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16208863T>C	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3320T>C	16.37:g.16208863T>C	ENSP00000382342:p.Val1107Ala					ABCC1_uc010bvj.2_Missense_Mutation_p.V1048A|ABCC1_uc010bvk.2_Missense_Mutation_p.V1051A|ABCC1_uc010bvl.2_Missense_Mutation_p.V1107A|ABCC1_uc010bvm.2_Missense_Mutation_p.V992A|ABCC1_uc002del.3_Missense_Mutation_p.V1001A	p.V1107A	NM_004996	NP_004987	P33527	MRP1_HUMAN			23	3495	+			1107			Helical; Name=14.|ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3320T>C	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.488017	0.84854	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.18	5.18	0.71444	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.248378	0.46758	D	0.000268	D	0.91290	0.7254	M	0.81614	2.55	0.36221	D	0.851985	B;B;B;B;B;B	0.31752	0.011;0.202;0.119;0.338;0.144;0.119	B;B;B;B;B;B	0.35182	0.057;0.197;0.068;0.079;0.142;0.138	D	0.93791	0.7092	10	0.87932	D	0	-12.8244	14.2213	0.65828	0.0:0.0:0.0:1.0	.	992;1107;1051;1048;1107;1117	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	A	1107;1117;1051;1048;1107;992;791	ENSP00000382342:V1107A;ENSP00000382340:V1117A;ENSP00000263019:V1051A;ENSP00000263017:V1048A;ENSP00000263014:V1107A;ENSP00000263016:V992A	ENSP00000263014:V1107A	V	+	2	0	ABCC1	16116364	1.000000	0.71417	0.995000	0.50966	0.574000	0.36063	6.271000	0.72569	1.959000	0.56917	0.533000	0.62120	GTT		0.567	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		6	45	0	0	0	0.001984	0	6	45				
ABCC6	368	broad.mit.edu	37	16	16248520	16248520	+	Silent	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr16:16248520C>T	ENST00000205557.7	-	29	4202	c.4173G>A	c.(4171-4173)ctG>ctA	p.L1391L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1391	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	ACTTGTACTGCAGCTGGCCGG	0.657																																							uc002den.3		NA																	0				skin(2)|ovary(1)	3						c.(4171-4173)CTG>CTA		ATP-binding cassette, sub-family C, member 6							33.0	29.0	30.0					16																	16248520		2197	4299	6496	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16248520C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4173G>A	16.37:g.16248520C>T						ABCC6_uc010bvo.2_RNA|ABCC6_uc002dem.2_Silent_p.L143L	p.L1391L	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	29	4210	-			1391			Cytoplasmic (By similarity).|ABC transporter 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.4173G>A	CCDS10568.1																																																																																				0.657	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			4	30	0	0	0	0.000602	0	4	30				
MYH4	4622	broad.mit.edu	37	17	10366910	10366910	+	Silent	SNP	G	G	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr17:10366910G>A	ENST00000255381.2	-	8	809	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	233	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.F233F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCATTGCCGAAGGCTTCCA	0.423																																							uc002gmn.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(697-699)TTC>TTT		myosin, heavy polypeptide 4, skeletal muscle							106.0	103.0	104.0					17																	10366910		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366910G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.699C>T	17.37:g.10366910G>A						uc002gml.1_Intron	p.F233F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			8	810	-			233			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.699C>T	CCDS11154.1																																																																																				0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		11	69	0	0	0	0.001368	0	11	69				
MYO19	80179	broad.mit.edu	37	17	34858967	34858967	+	Missense_Mutation	SNP	C	C	A	rs199688601		TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr17:34858967C>A	ENST00000431794.3	-	21	2572	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	MYO19_ENST00000268852.9_Missense_Mutation_p.D484Y	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	684	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TATGGGCTGTCGGGGCCAGAG	0.517																																							uc010wcy.1		NA																	0				ovary(1)	1						c.(2050-2052)GAC>TAC		myosin XIX isoform 2							174.0	183.0	180.0					17																	34858967		1953	4155	6108	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34858967C>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2050G>T	17.37:g.34858967C>A	ENSP00000409936:p.Asp684Tyr					MYO19_uc002hmw.2_Missense_Mutation_p.D484Y|MYO19_uc010cuu.2_RNA	p.D684Y	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	22	3042	-		Breast(25;0.00957)|Ovarian(249;0.17)	684			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.2050G>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228278	0.01518	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89746	-2.36;-2.56	5.25	-3.56	0.04626	Myosin head, motor domain (1);	.	.	.	.	T	0.71634	0.3363	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.56854	-0.7910	9	0.51188	T	0.08	.	2.3545	0.04292	0.2206:0.3566:0.3028:0.12	.	684;484	Q96H55;Q96H55-4	MYO19_HUMAN;.	Y	684;484	ENSP00000409936:D684Y;ENSP00000268852:D484Y	ENSP00000268852:D484Y	D	-	1	0	MYO19	31933080	0.001000	0.12720	0.004000	0.12327	0.061000	0.15899	0.013000	0.13310	-0.809000	0.04381	-1.161000	0.01788	GAC		0.517	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		14	139	1	0	0.000219431	0.00245	0.000442138	14	139				
ZNF208	7757	broad.mit.edu	37	19	22171640	22171640	+	Silent	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr19:22171640C>T	ENST00000397126.4	-	2	223	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000601773.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAAATTCTGCTGTGCAGTGT	0.398																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(73-75)CAG>CAA		zinc finger protein 208							137.0	147.0	143.0					19																	22171640		2203	4299	6502	SO:0001819	synonymous_variant	7757							g.chr19:22171640C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.75G>A	19.37:g.22171640C>T						ZNF208_uc002nqo.1_Silent_p.Q25Q|ZNF208_uc002nqq.2_RNA	p.Q25Q	NM_007153	NP_009084					2	224	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.75G>A	CCDS54240.1																																																																																				0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		7	118	0	0	0	0.004482	0	7	118				
ZNF571	51276	broad.mit.edu	37	19	38056962	38056962	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr19:38056962G>C	ENST00000328550.2	-	4	467	c.368C>G	c.(367-369)tCa>tGa	p.S123*	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Nonsense_Mutation_p.S123*|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Nonsense_Mutation_p.S123*|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000358744.3_Nonsense_Mutation_p.S123*|ZNF571-AS1_ENST00000586013.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAGAGGTTGAATGACTTTC	0.403																																							uc002ogt.2		NA																	0					0						c.(367-369)TCA>TGA		zinc finger protein 571							124.0	118.0	120.0					19																	38056962		2203	4300	6503	SO:0001587	stop_gained	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056962G>C	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.368C>G	19.37:g.38056962G>C	ENSP00000333660:p.Ser123*					uc002ogm.2_RNA|uc002ogn.2_RNA|ZNF540_uc002ogo.2_RNA|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Nonsense_Mutation_p.S123*	p.S123*	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	469	-			123					Q2HIY0|Q3ZCU3|Q9NZX7	Nonsense_Mutation	SNP	ENST00000328550.2	37	c.368C>G	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836939	0.71373	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	.	.	.	3.5	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.2185	0.06707	0.104:0.1746:0.542:0.1793	.	.	.	.	X	123	.	ENSP00000333660:S123X	S	-	2	0	ZNF571	42748802	0.604000	0.26932	0.000000	0.03702	0.453000	0.32348	0.511000	0.22739	0.129000	0.18514	0.313000	0.20887	TCA		0.403	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		9	74	0	0	0	0.004482	0	9	74				
PTOV1	53635	broad.mit.edu	37	19	50360330	50360330	+	Silent	SNP	C	C	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr19:50360330C>G	ENST00000601675.1	+	6	761	c.657C>G	c.(655-657)ccC>ccG	p.P219P	AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.P187P|PTOV1_ENST00000601638.1_Silent_p.P187P|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Silent_p.P187P|MIR4749_ENST00000578197.1_RNA|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000391842.1_Silent_p.P219P|PTOV1_ENST00000599732.1_Silent_p.P219P|AC018766.5_ENST00000599259.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	219	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCCTCATCCCCTACGACCAGA	0.622																																							uc002pqf.1		NA																	0					0						c.(655-657)CCC>CCG		prostate tumor overexpressed 1							205.0	184.0	191.0					19																	50360330		2203	4300	6503	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50360330C>G	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.657C>G	19.37:g.50360330C>G						PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.P187P|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.P219P	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	6	827	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	219			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.657C>G	CCDS12782.1																																																																																				0.622	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		29	186	0	0	0	0.008361	0	29	186				
LILRB4	11006	broad.mit.edu	37	19	55177869	55177869	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr19:55177869G>A	ENST00000391736.1	+	11	1285	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	LILRB4_ENST00000391734.3_Missense_Mutation_p.V324I|LILRB4_ENST00000270452.2_Missense_Mutation_p.V324I|LILRB4_ENST00000391733.3_Missense_Mutation_p.V324I|LILRB4_ENST00000430952.2_Missense_Mutation_p.V324I	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	324					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCTGCTGACGTCCAGGGAGA	0.582																																							uc002qgp.2		NA																	0				ovary(3)	3						c.(970-972)GTC>ATC		leukocyte immunoglobulin-like receptor,							91.0	80.0	84.0					19																	55177869		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55177869G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.970G>A	19.37:g.55177869G>A	ENSP00000375616:p.Val324Ile					LILRB4_uc002qgq.2_Missense_Mutation_p.V324I|LILRB4_uc002qgr.2_Missense_Mutation_p.V365I|LILRB4_uc010ert.2_Missense_Mutation_p.V365I|LILRB4_uc010eru.2_Missense_Mutation_p.V353I	p.V324I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	9	1332	+			324			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.970G>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.381732	0.01204	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00479	7.25;7.25;7.25;7.18;7.27;7.12	1.86	-3.73	0.04398	.	.	.	.	.	T	0.00271	0.0008	L	0.37561	1.115	0.09310	N	1	B;B;B;B;B	0.24368	0.102;0.037;0.062;0.062;0.102	B;B;B;B;B	0.16722	0.008;0.005;0.01;0.016;0.007	T	0.43278	-0.9401	9	0.27785	T	0.31	.	0.2487	0.00202	0.258:0.1516:0.2243:0.3661	.	324;323;324;324;324	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	I	324;324;324;324;324;323	ENSP00000375616:V324I;ENSP00000270452:V324I;ENSP00000408995:V324I;ENSP00000375614:V324I;ENSP00000375613:V324I;ENSP00000401962:V323I	ENSP00000270452:V324I	V	+	1	0	LILRB4	59869681	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.284000	0.01154	-2.879000	0.00320	-0.567000	0.04161	GTC		0.582	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			5	47	0	0	0	0.000602	0	5	47				
PRKRA	8575	broad.mit.edu	37	2	179315119	179315119	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr2:179315119C>T	ENST00000325748.4	-	2	285	c.85G>A	c.(85-87)Gct>Act	p.A29T	DFNB59_ENST00000409117.3_5'Flank|PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000487082.1_Missense_Mutation_p.A4T|DFNB59_ENST00000375129.4_5'Flank|PRKRA_ENST00000432031.2_Missense_Mutation_p.A18T|PRKRA_ENST00000438687.3_5'UTR	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	29	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CCTGGCTTAGCTGTTATCATC	0.428																																					Melanoma(200;68 3001 23825 48764)	Melanoma(200;68 3001 23825 48764)	uc002umf.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(85-87)GCT>ACT		protein kinase, interferon-inducible double							217.0	239.0	231.0					2																	179315119		2203	4300	6503	SO:0001583	missense	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179315119C>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.85G>A	2.37:g.179315119C>T	ENSP00000318176:p.Ala29Thr					PRKRA_uc002umd.2_Missense_Mutation_p.A4T|PRKRA_uc002ume.2_Missense_Mutation_p.A18T|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank|DFNB59_uc002umj.3_5'Flank	p.A29T	NM_003690	NP_003681	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		2	286	-			29			Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	c.85G>A	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809828	0.50421	.	.	ENSG00000180228	ENST00000325748;ENST00000487082;ENST00000432031;ENST00000457633	T;T;T	0.73047	-0.67;-0.71;-0.68	5.78	4.9	0.64082	.	0.196948	0.44902	D	0.000409	T	0.44456	0.1294	N	0.08118	0	0.80722	D	1	B;B	0.23185	0.081;0.013	B;B	0.20955	0.032;0.014	T	0.41142	-0.9525	10	0.25106	T	0.35	.	4.937	0.13946	0.1777:0.6631:0.0:0.1592	.	29;18	O75569;O75569-2	PRKRA_HUMAN;.	T	29;4;18;18	ENSP00000318176:A29T;ENSP00000430604:A4T;ENSP00000393883:A18T	ENSP00000318176:A29T	A	-	1	0	PRKRA	179023365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.175000	0.31944	2.733000	0.93635	0.655000	0.94253	GCT		0.428	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		9	173	0	0	0	0.000978	0	9	173				
PARD3B	117583	broad.mit.edu	37	2	206364756	206364756	+	Splice_Site	SNP	G	G	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr2:206364756G>T	ENST00000406610.2	+	21	3387		c.e21+1		PARD3B_ENST00000351153.1_Splice_Site|PARD3B_ENST00000349953.3_Splice_Site|PARD3B_ENST00000488622.1_Splice_Site|PARD3B_ENST00000358768.2_Splice_Site	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCTACTCTGGGTAAGCGCATG	0.418																																							uc002var.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.e21+1		par-3 partitioning defective 3 homolog B isoform							202.0	183.0	189.0					2																	206364756		1916	4127	6043	SO:0001630	splice_region_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206364756G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3180+1G>T	2.37:g.206364756G>T						PARD3B_uc002vao.1_Splice_Site_p.W959_splice|PARD3B_uc002vap.1_Splice_Site_p.W998_splice|PARD3B_uc002vaq.1_Splice_Site_p.W991_splice	p.W1060_splice	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	21	3387	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)						E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Splice_Site	SNP	ENST00000406610.2	37	c.3180_splice		.	.	.	.	.	.	.	.	.	.	G	15.82	2.945511	0.53079	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARD3B	206073001	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.722000	0.74735	2.797000	0.96272	0.563000	0.77884	.		0.418	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	Intron	17	86	1	0	3.32936e-07	0.006122	7.49106e-07	17	86				
UGT1A10	54575	broad.mit.edu	37	2	234545239	234545239	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr2:234545239A>G	ENST00000344644.5	+	1	140	c.71A>G	c.(70-72)gAg>gGg	p.E24G	UGT1A10_ENST00000373445.1_Missense_Mutation_p.E24G|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	24					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GGCTTTGCCGAGGCAGGGAAG	0.592																																							uc002vur.2		NA																	0				ovary(2)|skin(1)	3						c.(70-72)GAG>GGG		UDP glycosyltransferase 1 family, polypeptide							102.0	94.0	97.0					2																	234545239		2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545239A>G	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.71A>G	2.37:g.234545239A>G	ENSP00000343838:p.Glu24Gly					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.E24G	p.E24G	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	117	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	24					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.71A>G	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	A	8.859	0.946533	0.18356	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.61510	0.1;0.17	3.83	1.37	0.22104	.	.	.	.	.	T	0.51822	0.1697	M	0.72479	2.2	0.09310	N	0.999999	B;B	0.25850	0.136;0.061	B;B	0.28553	0.091;0.028	T	0.45056	-0.9287	9	0.34782	T	0.22	.	4.9734	0.14127	0.6685:0.1559:0.1756:0.0	.	24;24	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	G	24	ENSP00000343838:E24G;ENSP00000362544:E24G	ENSP00000343838:E24G	E	+	2	0	UGT1A10	234209978	0.000000	0.05858	0.362000	0.25862	0.411000	0.31082	0.309000	0.19332	0.183000	0.20059	0.438000	0.28831	GAG		0.592	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		16	104	0	0	0	0.004007	0	16	104				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																							uc010ztl.1		NA																	0					0						c.(88-90)CAT>TAT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.H30Y							2	120	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.88C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	30	0	0	0	0.008291	0	6	30				
PTPRT	11122	broad.mit.edu	37	20	41101003	41101003	+	Silent	SNP	G	G	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr20:41101003G>C	ENST00000373187.1	-	8	1352	c.1353C>G	c.(1351-1353)ggC>ggG	p.G451G	PTPRT_ENST00000373190.1_Silent_p.G451G|PTPRT_ENST00000373201.1_Silent_p.G451G|PTPRT_ENST00000373198.4_Silent_p.G451G|PTPRT_ENST00000373193.3_Silent_p.G451G|PTPRT_ENST00000373184.1_Silent_p.G451G|PTPRT_ENST00000356100.2_Silent_p.G451G			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	451	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGGCGCAGGCCTCGCAGGG	0.602																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1351-1353)GGC>GGG		protein tyrosine phosphatase, receptor type, T							60.0	67.0	65.0					20																	41101003		2157	4249	6406	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101003G>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1353C>G	20.37:g.41101003G>C						PTPRT_uc010ggj.2_Silent_p.G451G	p.G451G	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1537	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	451			Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.1353C>G	CCDS42874.1																																																																																				0.602	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	78	0	0	0	0.000602	0	4	78				
GMEB2	26205	broad.mit.edu	37	20	62236177	62236177	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr20:62236177C>G	ENST00000266068.1	-	2	626	c.148G>C	c.(148-150)Gat>Cat	p.D50H	GMEB2_ENST00000370077.1_Missense_Mutation_p.D50H|GMEB2_ENST00000370069.1_5'UTR			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	50					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCATGTTATCTTCCGTCAGG	0.572																																							uc002yfp.1		NA																	0					0						c.(148-150)GAT>CAT		glucocorticoid modulatory element binding							65.0	70.0	68.0					20																	62236177		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62236177C>G	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.148G>C	20.37:g.62236177C>G	ENSP00000266068:p.Asp50His					GMEB2_uc002yfo.1_5'UTR|GMEB2_uc002yfq.1_Missense_Mutation_p.D50H	p.D50H	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		2	627	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		50					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.148G>C	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620673	0.28889	.	.	ENSG00000101216	ENST00000370077;ENST00000266068	T;T	0.57595	0.39;0.39	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	N	0.19112	0.55	0.41548	D	0.988555	P	0.41313	0.745	B	0.35278	0.199	T	0.48864	-0.8997	10	0.66056	D	0.02	0.2296	17.9247	0.88979	0.0:1.0:0.0:0.0	.	50	Q9UKD1	GMEB2_HUMAN	H	50	ENSP00000359094:D50H;ENSP00000266068:D50H	ENSP00000266068:D50H	D	-	1	0	GMEB2	61706621	1.000000	0.71417	0.033000	0.17914	0.063000	0.16089	4.775000	0.62346	2.317000	0.78254	0.462000	0.41574	GAT		0.572	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		5	98	0	0	0	0.001168	0	5	98				
KRTAP13-4	284827	broad.mit.edu	37	21	31802689	31802689	+	Silent	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr21:31802689C>T	ENST00000334068.2	+	1	118	c.96C>T	c.(94-96)agC>agT	p.S32S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	32						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TGGTCTACAGCACTGCCCTCT	0.597																																					NSCLC(196;2401 3038 18004 35753)	NSCLC(196;2401 3038 18004 35753)	uc011acw.1		NA																	0					0						c.(94-96)AGC>AGT		keratin associated protein 13-4							85.0	86.0	85.0					21																	31802689		2203	4300	6503	SO:0001819	synonymous_variant	284827					intermediate filament		g.chr21:31802689C>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.96C>T	21.37:g.31802689C>T							p.S32S	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	96	+			32					A2RRL3	Silent	SNP	ENST00000334068.2	37	c.96C>T	CCDS13592.1																																																																																				0.597	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			11	92	0	0	0	0.008291	0	11	92				
SUMO3	6612	broad.mit.edu	37	21	46226945	46226945	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr21:46226945T>C	ENST00000397898.3	-	4	365	c.283A>G	c.(283-285)Agg>Ggg	p.R95G	SUMO3_ENST00000332859.6_Missense_Mutation_p.E78G|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Missense_Mutation_p.E116G|AL773604.8_ENST00000417820.1_RNA					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		GTCCTCGTCCTCCATCTCCAG	0.602																																							uc002zfz.1		NA																	0					0						c.(232-234)GAG>GGG		small ubiquitin-like modifier protein 3							74.0	61.0	66.0					21																	46226945		2203	4300	6503	SO:0001583	missense	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46226945T>C		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.283A>G	21.37:g.46226945T>C	ENSP00000380995:p.Arg95Gly					SUMO3_uc011afi.1_Missense_Mutation_p.E116G|SUMO3_uc002zga.1_Missense_Mutation_p.R95G	p.E78G	NM_006936	NP_008867	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	4	394	-			78			Ubiquitin-like.			Missense_Mutation	SNP	ENST00000397898.3	37	c.233A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.128201|4.128201	0.77549|0.77549	.|.	.|.	ENSG00000184900|ENSG00000184900	ENST00000332859;ENST00000411651|ENST00000397898	T;T|T	0.40225|0.26810	1.04;1.04|1.71	5.32|5.32	5.32|5.32	0.75619|0.75619	Ubiquitin supergroup (1);Small ubiquitin-related modifier, SUMO (1);Ubiquitin (1);|.	.|.	.|.	.|.	.|.	T|T	0.33147|0.33147	0.0853|0.0853	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	P;B|P	0.51933|0.38922	0.949;0.254|0.651	P;B|B	0.60609|0.36030	0.877;0.35|0.216	T|T	0.21109|0.21109	-1.0255|-1.0255	9|8	0.56958|.	D|.	0.05|.	.|.	14.9632|14.9632	0.71171|0.71171	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	116;78|95	B4DUW4;P55854|A8MUA9	.;SUMO3_HUMAN|.	G|G	78;116|95	ENSP00000330343:E78G;ENSP00000409666:E116G|ENSP00000380995:R95G	ENSP00000330343:E78G|.	E|R	-|-	2|1	0|2	SUMO3|SUMO3	45051373|45051373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.143000|7.143000	0.77348|0.77348	2.004000|2.004000	0.58718|0.58718	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.602	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			3	54	0	0	0	0.004672	0	3	54				
TRMT2A	27037	broad.mit.edu	37	22	20102885	20102885	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr22:20102885T>A	ENST00000252136.7	-	4	1182	c.794A>T	c.(793-795)tAc>tTc	p.Y265F	RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.Y265F|TRMT2A_ENST00000404751.3_Missense_Mutation_p.Y265F|RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.Y265F|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000492988.1_5'UTR	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	265					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCCGCCCTTGTACTTGCCGAG	0.592																																							uc002zrk.1		NA																	0				breast(1)	1						c.(793-795)TAC>TTC		HpaII tiny fragments locus 9C							75.0	60.0	65.0					22																	20102885		2201	4295	6496	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20102885T>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.794A>T	22.37:g.20102885T>A	ENSP00000252136:p.Tyr265Phe					TRMT2A_uc002zrl.1_Missense_Mutation_p.Y265F|TRMT2A_uc002zrm.1_Missense_Mutation_p.Y87F|TRMT2A_uc002zrn.1_Missense_Mutation_p.Y265F|TRMT2A_uc011ahk.1_3'UTR|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.Y265F	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			5	1009	-			265					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.794A>T	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466988	0.84425	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.45276	0.92;0.92;0.9	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.45422	1.42	0.80722	D	1	B;B;B	0.19445	0.003;0.036;0.01	B;B;B	0.16722	0.007;0.016;0.007	T	0.18871	-1.0323	10	0.52906	T	0.07	-22.3006	14.8699	0.70448	0.0:0.0:0.0:1.0	.	265;265;265	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	F	265	ENSP00000252136:Y265F;ENSP00000385807:Y265F;ENSP00000395738:Y265F	ENSP00000252136:Y265F	Y	-	2	0	TRMT2A	18482885	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.494000	0.81503	1.999000	0.58509	0.459000	0.35465	TAC		0.592	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		11	51	0	0	0	0.000978	0	11	51				
DLEC1	9940	broad.mit.edu	37	3	38104070	38104070	+	Splice_Site	SNP	A	A	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr3:38104070A>G	ENST00000308059.6	+	5	894		c.e5-1		DLEC1_ENST00000346219.3_Splice_Site|DLEC1_ENST00000452631.2_Splice_Site					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TATGTTTCAAAGAAAGCAAGT	0.448																																							uc003cho.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.e5-2		deleted in lung and esophageal cancer 1 isoform							72.0	72.0	72.0					3																	38104070		1948	4134	6082	SO:0001630	splice_region_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38104070A>G	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.874-1A>G	3.37:g.38104070A>G						DLEC1_uc003chp.1_Splice_Site_p.K292_splice|DLEC1_uc010hgv.1_Splice_Site_p.K292_splice|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	p.K292_splice	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	5	895	+									Splice_Site	SNP	ENST00000308059.6	37	c.874_splice	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	10.23	1.293319	0.23564	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9554	0.47354	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLEC1	38079074	1.000000	0.71417	0.643000	0.29450	0.288000	0.27193	4.602000	0.61098	2.086000	0.62901	0.533000	0.62120	.		0.448	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	Intron	9	30	0	0	0	0.004482	0	9	30				
PHLDB2	90102	broad.mit.edu	37	3	111686558	111686558	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr3:111686558G>A	ENST00000431670.2	+	15	3613	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K	PHLDB2_ENST00000412622.1_Missense_Mutation_p.E1025K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1068K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E559K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1052K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E1025K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1068						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACGAGCCCTGGAAGAAGAAAA	0.373											OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010hqa.2		NA																	0				ovary(4)|skin(2)	6						c.(3202-3204)GAA>AAA		pleckstrin homology-like domain, family B,							43.0	43.0	43.0					3																	111686558		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111686558G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3202G>A	3.37:g.111686558G>A	ENSP00000405405:p.Glu1068Lys		OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	PHLDB2_uc003dyc.2_Missense_Mutation_p.E1052K|PHLDB2_uc003dyd.2_Missense_Mutation_p.E1025K|PHLDB2_uc003dyg.2_Missense_Mutation_p.E1068K|PHLDB2_uc003dyh.2_Missense_Mutation_p.E1025K|PHLDB2_uc003dyi.2_Missense_Mutation_p.E559K|PHLDB2_uc003dyj.2_Missense_Mutation_p.E123K	p.E1068K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			15	3613	+			1068			Potential.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3202G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665315	0.96745	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.57	5.57	0.84162	.	0.056319	0.64402	D	0.000001	T	0.73505	0.3595	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.76071	0.953;0.978;0.987;0.982	T	0.74253	-0.3725	10	0.56958	D	0.05	.	18.6929	0.91589	0.0:0.0:1.0:0.0	.	559;1068;1025;1052	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	K	1052;1068;1025;1025;1068;1025;559	ENSP00000377500:E1052K;ENSP00000405405:E1068K;ENSP00000405292:E1025K;ENSP00000418296:E1025K;ENSP00000377502:E1068K;ENSP00000418319:E1025K;ENSP00000420303:E559K	ENSP00000377500:E1052K	E	+	1	0	PHLDB2	113169248	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.000000	0.93564	2.780000	0.95670	0.655000	0.94253	GAA		0.373	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		4	15	0	0	0	0.000602	0	4	15				
UGT2B15	7366	broad.mit.edu	37	4	69519925	69519925	+	Silent	SNP	G	G	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr4:69519925G>T	ENST00000338206.5	-	5	1152	c.1143C>A	c.(1141-1143)atC>atA	p.I381I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	381					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TCGCCTCATAGATGCCATTGG	0.413																																							uc011cal.1		NA																	0					0						c.(1141-1143)ATC>ATA		UDP glycosyltransferase 2B15 precursor							180.0	179.0	179.0					4																	69519925		2203	4296	6499	SO:0001819	synonymous_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519925G>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1143C>A	4.37:g.69519925G>T							p.I381I	NM_001076	NP_001067	P54855	UDB15_HUMAN			5	1181	-			381					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Silent	SNP	ENST00000338206.5	37	c.1143C>A	CCDS3524.1																																																																																				0.413	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		8	127	1	0	1.58986e-06	0.008291	3.51855e-06	8	127				
ABCG2	9429	broad.mit.edu	37	4	89020602	89020602	+	Splice_Site	SNP	T	T	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr4:89020602T>A	ENST00000237612.3	-	12	1913		c.e12-2		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)						cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TATTCATGTCTATAGAACAAA	0.383																																							uc003hrg.2		NA																	0				central_nervous_system(1)	1						c.e12-1		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						97.0	96.0	97.0					4																	89020602		2203	4300	6503	SO:0001630	splice_region_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89020602T>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1368-2A>T	4.37:g.89020602T>A						ABCG2_uc003hrh.2_Splice_Site_p.I456_splice|ABCG2_uc003hrf.2_Splice_Site_p.I324_splice	p.I456_splice	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	12	1861	-		Hepatocellular(203;0.114)						A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Splice_Site	SNP	ENST00000237612.3	37	c.1368_splice	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015104	0.75161	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7156	0.69265	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89239626	1.000000	0.71417	0.970000	0.41538	0.806000	0.45545	7.679000	0.84048	1.960000	0.56953	0.383000	0.25322	.		0.383	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Intron	7	50	0	0	0	0.001984	0	7	50				
CCDC127	133957	broad.mit.edu	37	5	205488	205488	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr5:205488A>C	ENST00000296824.3	-	3	839	c.707T>G	c.(706-708)cTc>cGc	p.L236R		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	236										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TTTGAGATAGAGCCACATGAG	0.438																																							uc003jam.1		NA																	0					0						c.(706-708)CTC>CGC		coiled-coil domain containing 127							102.0	101.0	102.0					5																	205488		2203	4300	6503	SO:0001583	missense	133957							g.chr5:205488A>C	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.707T>G	5.37:g.205488A>C	ENSP00000296824:p.Leu236Arg						p.L236R	NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	807	-			236						Missense_Mutation	SNP	ENST00000296824.3	37	c.707T>G	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238615	0.58886	.	.	ENSG00000164366	ENST00000296824	D	0.88818	-2.43	5.48	5.48	0.80851	.	0.187282	0.46758	D	0.000271	D	0.91717	0.7381	M	0.76574	2.34	0.48571	D	0.999672	P	0.49783	0.928	P	0.52343	0.696	D	0.92467	0.5982	10	0.66056	D	0.02	-4.8495	13.5168	0.61545	1.0:0.0:0.0:0.0	.	236	Q96BQ5	CC127_HUMAN	R	236	ENSP00000296824:L236R	ENSP00000296824:L236R	L	-	2	0	CCDC127	258488	1.000000	0.71417	0.944000	0.38274	0.205000	0.24178	8.459000	0.90367	2.094000	0.63399	0.459000	0.35465	CTC		0.438	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		4	108	0	0	0	0.000602	0	4	108				
BTN1A1	696	broad.mit.edu	37	6	26509081	26509081	+	Silent	SNP	C	C	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr6:26509081C>A	ENST00000244513.6	+	7	1326	c.1260C>A	c.(1258-1260)cgC>cgA	p.R420R		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	420	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGCCCCCACGCCGGGTTGGGA	0.502																																							uc003nif.3		NA																	0				ovary(1)|skin(1)	2						c.(1258-1260)CGC>CGA		butyrophilin, subfamily 1, member A1 precursor							52.0	53.0	53.0					6																	26509081		2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509081C>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1260C>A	6.37:g.26509081C>A							p.R420R	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			7	1280	+			420			B30.2/SPRY.|Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.1260C>A	CCDS4614.1																																																																																				0.502	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		13	47	1	0	0.00010058	0.001368	0.000208897	13	47				
CD109	135228	broad.mit.edu	37	6	74521963	74521963	+	Silent	SNP	C	C	G	rs144445787	byFrequency	TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr6:74521963C>G	ENST00000287097.5	+	29	3850	c.3738C>G	c.(3736-3738)tcC>tcG	p.S1246S	CD109_ENST00000422508.2_Silent_p.S1169S|CD109_ENST00000437994.2_Silent_p.S1229S			Q6YHK3	CD109_HUMAN	CD109 molecule	1246					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTAATATTTCCGCAAATGGTT	0.333																																							uc003php.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(3736-3738)TCC>TCG		CD109 antigen isoform 1 precursor							156.0	146.0	149.0					6																	74521963		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74521963C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3738C>G	6.37:g.74521963C>G						CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Silent_p.S1229S|CD109_uc010kba.2_Silent_p.S1169S	p.S1246S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			29	4163	+			1246					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.3738C>G	CCDS4982.1																																																																																				0.333	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		5	53	0	0	0	0.001168	0	5	53				
LAMA2	3908	broad.mit.edu	37	6	129470208	129470208	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr6:129470208G>C	ENST00000421865.2	+	7	1043	c.994G>C	c.(994-996)Gct>Cct	p.A332P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	332	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCCTGGAGAGCTGGAACTTT	0.403																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(994-996)GCT>CCT		laminin alpha 2 subunit isoform a precursor							93.0	95.0	94.0					6																	129470208		2203	4299	6502	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129470208G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.994G>C	6.37:g.129470208G>C	ENSP00000400365:p.Ala332Pro					LAMA2_uc003qbo.2_Missense_Mutation_p.A332P	p.A332P	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	7	1099	+			332			Laminin EGF-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.994G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.436985	0.25900	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.27720	1.65	5.92	5.92	0.95590	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	N	0.01081	-1.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.17410	-1.0370	10	0.02654	T	1	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	332;332	A6NF00;P24043	.;LAMA2_HUMAN	P	332	ENSP00000400365:A332P	ENSP00000346769:A332P	A	+	1	0	LAMA2	129511901	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.267000	0.72546	2.809000	0.96659	0.655000	0.94253	GCT		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	54	0	0	0	0.004672	0	3	54				
GLI3	2737	broad.mit.edu	37	7	42005257	42005257	+	Silent	SNP	G	G	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr7:42005257G>A	ENST00000395925.3	-	15	3498	c.3414C>T	c.(3412-3414)caC>caT	p.H1138H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1138					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTGGCCAGCGTGGCTGTCTG	0.677									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3412-3414)CAC>CAT		GLI-Kruppel family member GLI3							67.0	76.0	73.0					7																	42005257		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005257G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3414C>T	7.37:g.42005257G>A						GLI3_uc011kbg.1_Silent_p.H1079H	p.H1138H	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3505	-			1138					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3414C>T	CCDS5465.1																																																																																				0.677	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		10	121	0	0	0	0.006214	0	10	121				
PCLO	27445	broad.mit.edu	37	7	82764796	82764796	+	Silent	SNP	T	T	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr7:82764796T>C	ENST00000333891.9	-	3	2407	c.2070A>G	c.(2068-2070)ccA>ccG	p.P690P	PCLO_ENST00000423517.2_Silent_p.P690P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATCCTGTTTTGGTGCAGCAT	0.537																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(2068-2070)CCA>CCG		piccolo isoform 1							179.0	183.0	182.0					7																	82764796		2081	4214	6295	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764796T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2070A>G	7.37:g.82764796T>C						PCLO_uc003uhv.2_Silent_p.P690P	p.P690P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2359	-			636			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.2070A>G	CCDS47630.1																																																																																				0.537	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	36	0	0	0	0.000978	0	11	36				
RINT1	60561	broad.mit.edu	37	7	105195643	105195643	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr7:105195643C>G	ENST00000257700.2	+	11	1871	c.1640C>G	c.(1639-1641)tCa>tGa	p.S547*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	547	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AACTACATCTCAACAGTACTA	0.323																																							uc003vda.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1639-1641)TCA>TGA		RAD50 interactor 1							165.0	160.0	162.0					7																	105195643		2203	4300	6503	SO:0001587	stop_gained	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105195643C>G	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1640C>G	7.37:g.105195643C>G	ENSP00000257700:p.Ser547*					RINT1_uc010ljj.1_Nonsense_Mutation_p.S122*	p.S547*	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			11	1871	+			547			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	ENST00000257700.2	37	c.1640C>G	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	39	7.714903	0.98450	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.87	5.0	0.66597	.	0.309061	0.34362	N	0.004023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-2.4697	14.8213	0.70074	0.0:0.9313:0.0:0.0687	.	.	.	.	X	547	.	ENSP00000257700:S547X	S	+	2	0	RINT1	104982879	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	2.765000	0.47621	1.483000	0.48342	0.650000	0.86243	TCA		0.323	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		4	67	0	0	0	0.000248	0	4	67				
TRPV5	56302	broad.mit.edu	37	7	142625303	142625303	+	Silent	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr7:142625303C>T	ENST00000265310.1	-	7	1137	c.789G>A	c.(787-789)cgG>cgA	p.R263R	TRPV5_ENST00000442623.1_Silent_p.R263R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	263					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGATGTGCCTCCGCTTCTGCA	0.572																																							uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(787-789)CGG>CGA		transient receptor potential cation channel,							148.0	128.0	135.0					7																	142625303		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625303C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.789G>A	7.37:g.142625303C>T						TRPV5_uc003wbz.2_Silent_p.R263R	p.R263R	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			7	1053	-	Melanoma(164;0.059)		263			ANK 5.|Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.789G>A	CCDS5875.1																																																																																				0.572	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		17	90	0	0	0	0.008871	0	17	90				
LRRC6	23639	broad.mit.edu	37	8	133645019	133645019	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr8:133645019T>C	ENST00000519595.1	-	5	718	c.620A>G	c.(619-621)gAt>gGt	p.D207G	LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Missense_Mutation_p.D207G|LRRC6_ENST00000250173.1_Missense_Mutation_p.D207G			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	207					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCAACGTCCATCAAAGCCTGC	0.373																																							uc003ytk.2		NA																	0				ovary(1)|kidney(1)	2						c.(619-621)GAT>GGT		leucine rich repeat containing 6							354.0	314.0	327.0					8																	133645019		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133645019T>C	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.620A>G	8.37:g.133645019T>C	ENSP00000429791:p.Asp207Gly					LRRC6_uc003ytl.2_RNA	p.D207G	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	694	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		207					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.620A>G		.	.	.	.	.	.	.	.	.	.	T	11.58	1.681274	0.29872	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.55413	0.69;0.52;0.69	5.55	3.16	0.36331	.	0.237955	0.38217	N	0.001766	T	0.32971	0.0847	N	0.14661	0.345	0.22292	N	0.999221	B	0.15930	0.015	B	0.14023	0.01	T	0.18840	-1.0324	10	0.40728	T	0.16	-9.9947	9.5091	0.39065	0.0:0.144:0.0:0.856	.	207	Q86X45	LRRC6_HUMAN	G	207	ENSP00000429791:D207G;ENSP00000428610:D207G;ENSP00000250173:D207G	ENSP00000250173:D207G	D	-	2	0	LRRC6	133714201	0.353000	0.24904	0.008000	0.14137	0.026000	0.11368	1.987000	0.40687	0.478000	0.27488	0.528000	0.53228	GAT		0.373	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		15	121	0	0	0	0.004007	0	15	121				
PLEC	5339	broad.mit.edu	37	8	145006974	145006974	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr8:145006974G>A	ENST00000322810.4	-	14	2304	c.2135C>T	c.(2134-2136)gCa>gTa	p.A712V	PLEC_ENST00000527096.1_Missense_Mutation_p.A598V|PLEC_ENST00000345136.3_Missense_Mutation_p.A575V|PLEC_ENST00000398774.2_Missense_Mutation_p.A543V|PLEC_ENST00000357649.2_Missense_Mutation_p.A579V|PLEC_ENST00000354589.3_Missense_Mutation_p.A575V|PLEC_ENST00000354958.2_Missense_Mutation_p.A553V|PLEC_ENST00000356346.3_Missense_Mutation_p.A561V|PLEC_ENST00000436759.2_Missense_Mutation_p.A602V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	712	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCACTCCGTGCCCGCTCGAT	0.692																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(2134-2136)GCA>GTA		plectin isoform 1							23.0	26.0	25.0					8																	145006974		2104	4199	6303	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145006974G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2135C>T	8.37:g.145006974G>A	ENSP00000323856:p.Ala712Val					PLEC_uc003zab.1_Missense_Mutation_p.A575V|PLEC_uc003zac.1_Missense_Mutation_p.A579V|PLEC_uc003zad.2_Missense_Mutation_p.A575V|PLEC_uc003zae.1_Missense_Mutation_p.A543V|PLEC_uc003zag.1_Missense_Mutation_p.A553V|PLEC_uc003zah.2_Missense_Mutation_p.A561V|PLEC_uc003zaj.2_Missense_Mutation_p.A602V	p.A712V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			14	2305	-			712			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2135C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898122	0.52227	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.90385	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;-2.66	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000008	D	0.94745	0.8304	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	D	0.93713	0.7026	10	0.32370	T	0.25	.	17.037	0.86479	0.0:0.0:1.0:0.0	.	602;561;553;712;543;575;579;575	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	575;579;575;543;712;553;561;602;598;619	ENSP00000344848:A575V;ENSP00000350277:A579V;ENSP00000346602:A575V;ENSP00000381756:A543V;ENSP00000323856:A712V;ENSP00000347044:A553V;ENSP00000348702:A561V;ENSP00000388180:A602V;ENSP00000434583:A598V;ENSP00000437303:A619V	ENSP00000323856:A712V	A	-	2	0	PLEC	145078962	1.000000	0.71417	0.927000	0.36925	0.509000	0.34042	9.271000	0.95698	2.321000	0.78463	0.551000	0.68910	GCA		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	15	0	0	0	0.001168	0	6	15				
LINGO2	158038	broad.mit.edu	37	9	27949218	27949218	+	Silent	SNP	G	G	T	rs150860330		TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr9:27949218G>T	ENST00000379992.2	-	6	1901	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	LINGO2_ENST00000308675.3_Silent_p.I484I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	484	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.I484I(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATTGCTAGCGATGCAAACAT	0.493																																							uc003zqu.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1450-1452)ATC>ATA		leucine rich repeat and Ig domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	100.0	95.0	97.0		1452	-6.5	0.4	9	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	LINGO2	NM_152570.1		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		484/607	27949218	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27949218G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1452C>A	9.37:g.27949218G>T						LINGO2_uc010mjf.1_Silent_p.I484I|LINGO2_uc003zqv.1_Silent_p.I484I	p.I484I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1646	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	484			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.1452C>A	CCDS6524.1																																																																																				0.493	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		6	37	1	0	3.59834e-05	0.001168	7.59024e-05	6	37				
TMC1	117531	broad.mit.edu	37	9	75387391	75387391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr9:75387391G>A	ENST00000297784.5	+	13	1344	c.804G>A	c.(802-804)tgG>tgA	p.W268*	TMC1_ENST00000340019.3_Nonsense_Mutation_p.W268*|TMC1_ENST00000396237.3_Nonsense_Mutation_p.W268*	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	268					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CAATTGGATGGATGAATTTCA	0.398																																					Pancreas(75;173 1345 14232 34245 43413)	Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1		NA																	0				ovary(1)	1						c.(802-804)TGG>TGA		transmembrane channel-like 1							223.0	218.0	220.0					9																	75387391		2203	4300	6503	SO:0001587	stop_gained	117531				sensory perception of sound	integral to membrane		g.chr9:75387391G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.804G>A	9.37:g.75387391G>A	ENSP00000297784:p.Trp268*					TMC1_uc010moz.1_Nonsense_Mutation_p.W226*|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Nonsense_Mutation_p.W122*|TMC1_uc010mpa.1_Nonsense_Mutation_p.W122*	p.W268*	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			13	1344	+			268			Extracellular (Potential).		A8MVZ2|B1AM91	Nonsense_Mutation	SNP	ENST00000297784.5	37	c.804G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	42	9.324466	0.99137	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	.	.	.	5.57	4.63	0.57726	.	0.188372	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-12.1201	16.7508	0.85485	0.0:0.1289:0.8711:0.0	.	.	.	.	X	268;268;235;235;235;262;268	.	ENSP00000297784:W268X	W	+	3	0	TMC1	74577211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.949000	0.56668	2.770000	0.95276	0.650000	0.86243	TGG		0.398	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			7	144	0	0	0	0.001984	0	7	144				
CCDC180	100499483	broad.mit.edu	37	9	100105801	100105801	+	Silent	SNP	A	A	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr9:100105801A>G	ENST00000357054.1	+	33	3938	c.3003A>G	c.(3001-3003)gaA>gaG	p.E1001E	CCDC180_ENST00000529487.1_Silent_p.E862E|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Silent_p.E862E|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Silent_p.E859E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1001						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGTTCATAGAACAAGTGACAA	0.373																																							uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(3001-3003)GAA>GAG		hypothetical protein LOC57653							84.0	80.0	81.0					9																	100105801		2203	4300	6503	SO:0001819	synonymous_variant	57653							g.chr9:100105801A>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3003A>G	9.37:g.100105801A>G						KIAA1529_uc004axe.1_Silent_p.E1001E|KIAA1529_uc004axg.1_Silent_p.E862E|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.E186E|KIAA1529_uc004axf.2_Silent_p.E862E	p.E1001E	NM_020893	NP_065944					31	3776	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.3003A>G																																																																																					0.373	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		8	28	0	0	0	0.006214	0	8	28				
RC3H2	54542	broad.mit.edu	37	9	125613379	125613379	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr9:125613379C>G	ENST00000373670.1	-	19	3961	c.3361G>C	c.(3361-3363)Ggt>Cgt	p.G1121R	RC3H2_ENST00000357244.2_Missense_Mutation_p.G1121R			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1121					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGGTCTTCACCTAAACTCTGT	0.383																																							uc010mwc.1		NA																	0				ovary(2)|lung(2)	4						c.(3361-3363)GGT>CGT		ring finger and CCCH-type zinc finger domains 2							219.0	212.0	214.0					9																	125613379		1947	4145	6092	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125613379C>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3361G>C	9.37:g.125613379C>G	ENSP00000362774:p.Gly1121Arg					uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA	p.G1121R	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			20	3602	-			1121					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.3361G>C	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.225549|4.225549	0.79576|0.79576	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244|ENST00000454740	T;T|.	0.53206|.	0.63;0.63|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.066210|.	0.64402|.	D|.	0.000010|.	T|.	0.46268|.	0.1384|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P|.	0.41748|.	0.761|.	B|.	0.39503|.	0.301|.	T|.	0.41395|.	-0.9511|.	10|.	0.87932|.	D|.	0|.	-17.705|-17.705	17.4177|17.4177	0.87505|0.87505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1121|.	Q9HBD1|.	RC3H2_HUMAN|.	R|Y	1121|179	ENSP00000362774:G1121R;ENSP00000349783:G1121R|.	ENSP00000349783:G1121R|.	G|X	-|-	1|3	0|2	RC3H2|RC3H2	124653200|124653200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.002000|5.002000	0.63952|0.63952	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|TAG		0.383	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		23	150	0	0	0	0.00333	0	23	150				
CLCN5	1184	broad.mit.edu	37	X	49853490	49853490	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chrX:49853490G>C	ENST00000307367.2	+	9	1774	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H	CLCN5_ENST00000376108.3_Missense_Mutation_p.D495H|CLCN5_ENST00000376088.3_Missense_Mutation_p.D565H|CLCN5_ENST00000376091.3_Missense_Mutation_p.D565H			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	495					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TCAGGGAGCTGATTGCATCAC	0.493																																							uc004dos.1		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1483-1485)GAT>CAT		chloride channel 5 isoform b							125.0	111.0	116.0					X																	49853490		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49853490G>C	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1483G>C	X.37:g.49853490G>C	ENSP00000304257:p.Asp495His					CLCN5_uc004dor.1_Missense_Mutation_p.D565H|CLCN5_uc004doq.1_Missense_Mutation_p.D565H|CLCN5_uc004dot.1_Missense_Mutation_p.D495H	p.D495H	NM_000084	NP_000075	P51795	CLCN5_HUMAN			9	1731	+	Ovarian(276;0.236)		495					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1483G>C	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591401	0.66219	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.54	5.54	0.83059	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	L	0.52823	1.66	0.80722	D	1	B;D	0.89917	0.127;1.0	B;D	0.87578	0.087;0.998	D	0.95628	0.8687	10	0.52906	T	0.07	-1.8898	17.459	0.87615	0.0:0.0:1.0:0.0	.	495;565	P51795;P51795-2	CLCN5_HUMAN;.	H	565;397;565;495;495	ENSP00000365256:D565H;ENSP00000365259:D565H;ENSP00000365276:D495H;ENSP00000304257:D495H	ENSP00000304257:D495H	D	+	1	0	CLCN5	49740230	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	9.592000	0.98245	2.480000	0.83734	0.523000	0.50628	GAT		0.493	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			9	74	0	0	0	0.008291	0	9	74				
FAM120C	54954	broad.mit.edu	37	X	54107840	54107840	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chrX:54107840C>A	ENST00000375180.2	-	14	2949	c.2893G>T	c.(2893-2895)Gtg>Ttg	p.V965L	FAM120C_ENST00000328235.4_Missense_Mutation_p.L827F	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	965							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CACTGGCCCACAACCATCCCA	0.562																																							uc004dsz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2893-2895)GTG>TTG		hypothetical protein LOC54954							82.0	69.0	73.0					X																	54107840		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54107840C>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2893G>T	X.37:g.54107840C>A	ENSP00000364324:p.Val965Leu					FAM120C_uc011moh.1_Missense_Mutation_p.L827F	p.V965L	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			14	2976	-			965					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.2893G>T	CCDS14356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.848066|4.848066	0.91277|0.91277	.|.	.|.	ENSG00000184083|ENSG00000184083	ENST00000328235|ENST00000375180	T|T	0.32515|0.52983	1.45|0.64	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|0.070422	.|0.56097	.|D	.|0.000028	T|T	0.68751|0.68751	0.3035|0.3035	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	B|D	0.17038|0.89917	0.02|1.0	B|D	0.26416|0.91635	0.069|0.999	T|T	0.73630|0.73630	-0.3922|-0.3922	9|10	0.87932|0.72032	D|D	0|0.01	-9.6551|-9.6551	15.9401|15.9401	0.79747|0.79747	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	827|965	F8W881|Q9NX05	.|F120C_HUMAN	F|L	827|965	ENSP00000329896:L827F|ENSP00000364324:V965L	ENSP00000329896:L827F|ENSP00000364324:V965L	L|V	-|-	3|1	2|0	FAM120C|FAM120C	54124565|54124565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.377000|7.377000	0.79668|0.79668	2.098000|2.098000	0.63641|0.63641	0.513000|0.513000	0.50165|0.50165	TTG|GTG		0.562	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		12	30	1	0	0.00136819	0.001368	0.00271627	12	30				
ZNF711	7552	broad.mit.edu	37	X	84510318	84510318	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chrX:84510318G>C	ENST00000373165.3	+	4	439	c.133G>C	c.(133-135)Gtt>Ctt	p.V45L	ZNF711_ENST00000276123.3_Missense_Mutation_p.V45L|ZNF711_ENST00000360700.4_Missense_Mutation_p.V45L|ZNF711_ENST00000542798.1_5'Flank|ZNF711_ENST00000395402.1_Missense_Mutation_p.V23L	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	45					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTTGTTTCAGTTCCTGAAGC	0.378																																							uc004eeo.2		NA																	0				ovary(3)|skin(1)	4						c.(133-135)GTT>CTT		zinc finger protein 711							215.0	162.0	180.0					X																	84510318		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84510318G>C	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.133G>C	X.37:g.84510318G>C	ENSP00000362260:p.Val45Leu					ZNF711_uc004eep.2_Missense_Mutation_p.V45L|ZNF711_uc004eeq.2_Missense_Mutation_p.V45L	p.V45L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			4	480	+			45					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.133G>C	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733227	0.89482	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.14391	2.72;2.51;2.51;2.69	4.94	4.94	0.65067	.	0.000000	0.39341	N	0.001398	T	0.36276	0.0961	M	0.68593	2.085	0.80722	D	1	D;D	0.58970	0.959;0.984	D;D	0.67103	0.949;0.935	T	0.16482	-1.0401	10	0.72032	D	0.01	-8.5782	17.3849	0.87413	0.0:0.0:1.0:0.0	.	45;45	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	L	23;45;45;45	ENSP00000378798:V23L;ENSP00000362260:V45L;ENSP00000276123:V45L;ENSP00000353922:V45L	ENSP00000276123:V45L	V	+	1	0	ZNF711	84396974	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.230000	0.95299	2.029000	0.59856	0.550000	0.68814	GTT		0.378	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		12	27	0	0	0	0.001855	0	12	27				
GPRASP2	114928	broad.mit.edu	37	X	101970715	101970715	+	Silent	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chrX:101970715C>T	ENST00000535209.1	+	4	1749	c.918C>T	c.(916-918)ccC>ccT	p.P306P	GPRASP2_ENST00000543253.1_Silent_p.P306P|GPRASP2_ENST00000332262.5_Silent_p.P306P			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	306						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGTTCAGGCCCAGAGTCAGGG	0.463																																							uc004ejk.2		NA																	0				ovary(1)	1						c.(916-918)CCC>CCT		G protein-coupled receptor associated sorting							104.0	101.0	102.0					X																	101970715		2203	4300	6503	SO:0001819	synonymous_variant	114928					cytoplasm	protein binding	g.chrX:101970715C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.918C>T	X.37:g.101970715C>T						GPRASP2_uc004ejl.2_Silent_p.P306P|GPRASP2_uc004ejm.2_Silent_p.P306P|GPRASP2_uc011mrp.1_5'Flank	p.P306P	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	2252	+			306					D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.918C>T	CCDS14501.1																																																																																				0.463	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		24	61	0	0	0	0.00278	0	24	61				
XPNPEP2	7512	broad.mit.edu	37	X	128902344	128902344	+	Silent	SNP	G	G	A	rs142832297	byFrequency	TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chrX:128902344G>A	ENST00000371106.3	+	21	2100	c.1908G>A	c.(1906-1908)gaG>gaA	p.E636E		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	636						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGCTACTAGAGGAGTTCGAGT	0.617													G|||	2	0.000529801	0.0015	0.0	3775	,	,		12992	0.0		0.0	False		,,,				2504	0.0						uc004eut.1		NA																	0					0						c.(1906-1908)GAG>GAA		X-prolyl aminopeptidase 2, membrane-bound		G		9,3826		0,8,1,1624,570	62.0	59.0	60.0		1908	0.7	0.4	X	dbSNP_134	60	0,6728		0,0,0,2428,1872	no	coding-synonymous	XPNPEP2	NM_003399.5		0,8,1,4052,2442	AA,AG,A,GG,G		0.0,0.2347,0.0852		636/675	128902344	9,10554	2203	4300	6503	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128902344G>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1908G>A	X.37:g.128902344G>A							p.E636E	NM_003399	NP_003390	O43895	XPP2_HUMAN			21	2152	+			636					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1908G>A	CCDS14613.1																																																																																				0.617	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		7	30	0	0	0	0.006214	0	7	30				
L1CAM	3897	broad.mit.edu	37	X	153134106	153134106	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chrX:153134106C>T	ENST00000370060.1	-	13	1645	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	L1CAM_ENST00000370057.3_Missense_Mutation_p.D486N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D481N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D486N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D481N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D488N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D488N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	486	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGAGGTCTCGAATGCCC	0.572																																							uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(1456-1458)GAC>AAC		L1 cell adhesion molecule isoform 1 precursor							145.0	104.0	118.0					X																	153134106		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134106C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1456G>A	X.37:g.153134106C>T	ENSP00000359077:p.Asp486Asn					L1CAM_uc004fjc.2_Missense_Mutation_p.D486N|L1CAM_uc010nuo.2_Missense_Mutation_p.D481N|L1CAM_uc004fjd.1_Missense_Mutation_p.D300N	p.D486N	NM_000425	NP_000416	P32004	L1CAM_HUMAN			12	1564	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		486			Extracellular (Potential).|Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1456G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837327	0.32513	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.187404	0.37219	N	0.002191	T	0.44286	0.1286	N	0.01228	-0.945	0.32335	N	0.560497	B;B;B	0.28128	0.167;0.033;0.201	B;B;B	0.30251	0.02;0.047;0.113	T	0.51482	-0.8700	10	0.05525	T	0.97	.	13.605	0.62041	0.0:0.8474:0.1525:0.0	.	481;486;486	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	N	486;488;486;488;481;481;486	ENSP00000359077:D486N;ENSP00000438430:D488N;ENSP00000359074:D486N;ENSP00000439645:D488N;ENSP00000354712:D481N;ENSP00000359072:D481N;ENSP00000355380:D486N	ENSP00000355380:D486N	D	-	1	0	L1CAM	152787300	0.002000	0.14202	0.952000	0.39060	0.790000	0.44656	0.811000	0.27198	2.374000	0.81015	0.529000	0.55759	GAC		0.572	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		9	33	0	0	0	0.004482	0	9	33				
STK11	6794	broad.mit.edu	37	19	1207065	1207065	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr19:1207065delG	ENST00000326873.7	+	1	1326	c.153delG	c.(151-153)atgfs	p.M51fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.		Missing (in PJS). {ECO:0000269|PubMed:9837816}.		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACCTGATGGGGGACCTGC	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		26	Whole gene deletion(20)|Deletion - Frameshift(2)|Unknown(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(19)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1)	cervix(15)|lung(6)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(151-153)ATGfs		serine/threonine protein kinase 11							38.0	43.0	41.0					19																	1207065		2071	4191	6262	SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1207065delG	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.153delG	19.37:g.1207065delG	ENSP00000324856:p.Met51fs	TSP Lung(3;<1E-08)					p.M51fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1268	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	51			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.153delG	CCDS45896.1																																																																																				0.607	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		7	40	NA	NA	NA	NA	NA	7	40	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49001784	49001784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7160-01A-11D-2036-08	TCGA-78-7160-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9	37732c62-0d8b-4ba4-a832-55cd5d0f6d49	g.chr19:49001784delG	ENST00000600059.1	-	11	2769	c.2542delC	c.(2542-2544)cggfs	p.R848fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.R877fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	848	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCTTCTCCCGGGGCCCCGGG	0.716																																							uc002pjk.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(2629-2631)CGGfs		lemur tyrosine kinase 3							5.0	5.0	5.0					19																	49001784		1754	3968	5722	SO:0001589	frameshift_variant	114783							g.chr19:49001784delG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2542delC	19.37:g.49001784delG	ENSP00000472020:p.Arg848fs						p.R877fs	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	12	2629	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.2629delC																																																																																					0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
