#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CYP4Z2P	163720	broad.mit.edu	37	1	47325397	47325397	+	RNA	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:47325397G>C	ENST00000505841.1	-	0	1132					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										TACTACCGGTGCGTAGAGGCG	0.473																																						ENST00000505841.1																			0																																																			163720							g.chr1:47325397G>C	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325397G>C								NR_002788.2						0	1132	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.473	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		7	75	7	75	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158606500	158606500	+	Silent	SNP	C	C	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:158606500C>A	ENST00000368147.4	-	37	5421	c.5241G>T	c.(5239-5241)ggG>ggT	p.G1747G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1747					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)					AGTTCTGAACCCCCTGAAGAT	0.463																																						ENST00000368147.4																			0				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						c.(5239-5241)ggG>ggT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							133.0	129.0	130.0					1																	158606500		1865	4097	5962	SO:0001819	synonymous_variant	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.chr1:158606500C>A	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.5241G>T	1.37:g.158606500C>A							p.G1747G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			37	5421	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5241G>T	CCDS41423.1																																																																																				0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		24	118	24	118	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176927554	176927554	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:176927554C>G	ENST00000367654.3	-	10	1898	c.1687G>C	c.(1687-1689)Gcc>Ccc	p.A563P	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	563					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCAGTTCGGCTGGTGGAATC	0.562																																						ENST00000367654.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1687-1689)Gcc>Ccc		astrotactin 1							112.0	83.0	93.0					1																	176927554		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927554C>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1687G>C	1.37:g.176927554C>G	ENSP00000356626:p.Ala563Pro					ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P	p.A563P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN			10	1898	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1687G>C		.	.	.	.	.	.	.	.	.	.	C	28.6	4.936322	0.92458	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15834	2.39;2.8;2.8;2.39	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	N	0.14661	0.345	0.80722	D	1	D;D;D	0.67145	0.996;0.983;0.983	D;P;P	0.63877	0.919;0.773;0.773	T	0.07385	-1.0775	10	0.42905	T	0.14	-20.4613	18.9852	0.92766	0.0:1.0:0.0:0.0	.	563;555;555	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	P	555;555;563;555;555	ENSP00000356629:A555P;ENSP00000354536:A555P;ENSP00000356626:A563P;ENSP00000395041:A555P	ENSP00000354536:A555P	A	-	1	0	ASTN1	175194177	1.000000	0.71417	0.910000	0.35882	0.907000	0.53573	5.851000	0.69481	2.572000	0.86782	0.655000	0.94253	GCC		0.562	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	22	18	22	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210561313	210561313	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:210561313G>C	ENST00000360351.4	+	8	4734	c.4228G>C	c.(4228-4230)Gag>Cag	p.E1410Q	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1410					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TATTCCTAAAGAGGAGAAAGC	0.383																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4228-4230)Gag>Cag		microtubule-associated protein 2	Estramustine(DB01196)						67.0	72.0	70.0					2																	210561313		2203	4299	6502	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210561313G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4228G>C	2.37:g.210561313G>C	ENSP00000353508:p.Glu1410Gln					MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000392194.1_Intron	p.E1410Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	8	4734	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1410					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4228G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193677	0.58017	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.66	5.66	0.87406	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000010	T	0.50205	0.1602	L	0.59436	1.845	0.42635	D	0.99339	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.38802	-0.9644	10	0.46703	T	0.11	-19.4489	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1406;1410	P11137-3;P11137	.;MAP2_HUMAN	Q	1410;1406	ENSP00000353508:E1410Q;ENSP00000392164:E1406Q	ENSP00000353508:E1410Q	E	+	1	0	MAP2	210269558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.018000	0.57174	2.673000	0.90976	0.650000	0.86243	GAG		0.383	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		17	38	17	38	---	---	---	---
MFF	56947	broad.mit.edu	37	2	228197187	228197187	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:228197187G>T	ENST00000353339.3	+	5	753	c.312G>T	c.(310-312)caG>caT	p.Q104H	MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000524634.1_5'UTR	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	104					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ACCTTATTCAGTCAACTCCCT	0.403																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(310-312)caG>caT		mitochondrial fission factor							199.0	195.0	196.0					2																	228197187		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197187G>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.312G>T	2.37:g.228197187G>T	ENSP00000302037:p.Gln104His					MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000524634.1_5'UTR	p.Q104H	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			5	753	+			104					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.312G>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147614	0.77888	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059	T;T	0.34275	1.37;1.37	5.27	4.39	0.52855	.	0.123816	0.64402	D	0.000018	T	0.52224	0.1721	L	0.59436	1.845	0.43531	D	0.995813	D;D;D;D;D;D	0.89917	0.989;1.0;0.994;0.989;1.0;0.999	P;D;D;P;D;D	0.91635	0.804;0.999;0.968;0.832;0.998;0.999	T	0.51458	-0.8703	10	0.51188	T	0.08	-9.3018	9.1621	0.37030	0.0739:0.0:0.7811:0.145	.	78;78;78;78;78;104	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	H	78;104;78;78;78;78;78;78;104	ENSP00000302037:Q104H;ENSP00000375912:Q104H	ENSP00000304898:Q78H	Q	+	3	2	MFF	227905431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	1.361000	0.45981	0.563000	0.77884	CAG		0.403	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		6	223	6	223	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126319977	126319977	+	Silent	SNP	A	A	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:126319977A>T	ENST00000394329.3	+	2	5227	c.5214A>T	c.(5212-5214)ccA>ccT	p.P1738P	FAT4_ENST00000335110.5_Silent_p.P36P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1738	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATCCACCAGTATTTCCAA	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5212-5214)ccA>ccT		FAT atypical cadherin 4							188.0	174.0	179.0					4																	126319977		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126319977A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5214A>T	4.37:g.126319977A>T						FAT4_ENST00000335110.5_Silent_p.P36P	p.P1738P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			2	5227	+			1738			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.5214A>T	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		50	79	50	79	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155254133	155254133	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:155254133C>T	ENST00000357232.4	-	9	1729	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	577	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGTGTTCGCGTTTCTCGAT	0.577																																						ENST00000357232.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1729-1731)cGc>cAc		dachsous cadherin-related 2							85.0	86.0	86.0					4																	155254133		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254133C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1730G>A	4.37:g.155254133C>T	ENSP00000349768:p.Arg577His					DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H	p.R577H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1729	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1730G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333144	0.41297	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60424	0.19;0.19	5.43	-7.46	0.01369	Cadherin (3);	1.047490	0.07507	N	0.908239	T	0.42630	0.1211	L	0.50333	1.59	0.20074	N	0.999934	D;D	0.56746	0.961;0.977	B;B	0.40741	0.213;0.339	T	0.49781	-0.8903	10	0.38643	T	0.18	.	7.5015	0.27520	0.0:0.2379:0.2745:0.4876	.	1076;577	E9PC11;Q6V1P9	.;PCD23_HUMAN	H	577;1076;1076	ENSP00000349768:R577H;ENSP00000345062:R1076H	ENSP00000345062:R1076H	R	-	2	0	DCHS2	155473583	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.048000	0.11944	-0.784000	0.04528	-2.232000	0.00291	CGC		0.577	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		27	44	27	44	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142630689	142630689	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr6:142630689G>A	ENST00000230173.6	+	2	487	c.11G>A	c.(10-12)cGc>cAc	p.R4H	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000367608.2_Missense_Mutation_p.R4H	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	4					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGGATGTTTCGCTCAGATCGA	0.393																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(10-12)cGc>cAc		G protein-coupled receptor 126							87.0	82.0	84.0					6																	142630689		1879	4101	5980	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142630689G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.11G>A	6.37:g.142630689G>A	ENSP00000230173:p.Arg4His					GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000545477.1_3'UTR	p.R4H	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	2	487	+	Breast(32;0.176)		4					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.11G>A	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.019	0.759208	0.15846	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199;ENST00000435011	T;T;T;T;T;T	0.25414	1.82;1.82;1.82;1.82;1.99;1.8	5.39	-3.61	0.04556	.	1.592710	0.03632	N	0.238086	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.25813	-1.0121	10	0.09084	T	0.74	.	6.3983	0.21624	0.4517:0.1417:0.4066:0.0	.	4;4;4;4;3	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	H	4;4;4;4;3;3	ENSP00000230173:R4H;ENSP00000356580:R4H;ENSP00000296932:R4H;ENSP00000356581:R4H;ENSP00000446287:R3H;ENSP00000438366:R3H	ENSP00000230173:R4H	R	+	2	0	GPR126	142672382	0.001000	0.12720	0.005000	0.12908	0.747000	0.42532	-0.179000	0.09768	-0.720000	0.04935	-0.455000	0.05494	CGC		0.393	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			3	6	3	6	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940884	144940884	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144940884G>C	ENST00000525985.1	-	2	6609	c.6538C>G	c.(6538-6540)Cag>Gag	p.Q2180E				P58107	EPIPL_HUMAN	epiplakin 1	2180						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGATCTGTCGTCTAATT	0.537																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6538-6540)Cag>Gag		epiplakin 1							252.0	262.0	259.0					8																	144940884		2082	4210	6292	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940884G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6538C>G	8.37:g.144940884G>C	ENSP00000436337:p.Gln2180Glu						p.Q2180E			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6609	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2180					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6538C>G		.	.	.	.	.	.	.	.	.	.	G	10.63	1.404833	0.25378	.	.	ENSG00000227184	ENST00000525985	T	0.67523	-0.27	4.66	1.68	0.24146	.	.	.	.	.	T	0.55955	0.1953	L	0.43923	1.385	0.09310	N	1	B	0.28439	0.212	B	0.32465	0.146	T	0.39143	-0.9628	9	0.10111	T	0.7	.	11.3764	0.49730	0.0:0.0:0.528:0.472	.	2180	E9PPU0	.	E	2180	ENSP00000436337:Q2180E	ENSP00000436337:Q2180E	Q	-	1	0	EPPK1	145012872	0.233000	0.23772	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.145000	0.18977	0.585000	0.79938	CAG		0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		93	262	93	262	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144990642	144990642	+	Silent	SNP	C	C	G	rs368660987		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144990642C>G	ENST00000322810.4	-	32	13927	c.13758G>C	c.(13756-13758)gcG>gcC	p.A4586A	PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000357649.2_Silent_p.A4453A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354958.2_Silent_p.A4427A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4586	Globular 2.				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						TGCGGTCCAGCGCGTCCTTAT	0.657																																						ENST00000322810.4																			0				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						c.(13756-13758)gcG>gcC		plectin							84.0	91.0	89.0					8																	144990642		2050	4198	6248	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990642C>G	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.13758G>C	8.37:g.144990642C>G						PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000354958.2_Silent_p.A4427A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000357649.2_Silent_p.A4453A	p.A4586A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13927	-			4586			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13758G>C	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	246	4	246	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104140384	104140384	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:104140384G>A	ENST00000369983.3	+	38	5371	c.5111G>A	c.(5110-5112)cGc>cAc	p.R1704H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1704					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R1704H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCTGGGAACGCATTGACTGT	0.557																																						ENST00000369983.3																			1	Substitution - Missense(1)	p.R1704H(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5110-5112)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							256.0	279.0	271.0					10																	104140384		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140384G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5111G>A	10.37:g.104140384G>A	ENSP00000359000:p.Arg1704His						p.R1704H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5371	+		Colorectal(252;0.0236)	1704					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5111G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147268	0.94603	.	.	ENSG00000107862	ENST00000369983	T	0.13778	2.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.986;0.987	T	0.00617	-1.1642	10	0.39692	T	0.17	-14.0455	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1700;1700;1704	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1704	ENSP00000359000:R1704H	ENSP00000359000:R1704H	R	+	2	0	GBF1	104130374	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.692000	0.98682	2.793000	0.96121	0.655000	0.94253	CGC		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			5	329	5	329	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127431798	127431798	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:127431798G>T	ENST00000356792.4	+	18	2775	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V	C10orf137_ENST00000337623.3_Missense_Mutation_p.G814V|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		848					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGAAATTGGTGTGTTTTAC	0.363																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2440-2442)gGt>gTt		chromosome 10 open reading frame 137							116.0	118.0	117.0					10																	127431798		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127431798G>T																												ENST00000356792.4:c.2543G>T	10.37:g.127431798G>T	ENSP00000349244:p.Gly848Val					C10orf137_ENST00000356792.4_Missense_Mutation_p.G848V	p.G814V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			17	2546	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	848					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2441G>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208081	0.58343	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.74737	-0.87;-0.87	4.93	4.93	0.64822	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86645	0.1894	10	0.72032	D	0.01	.	18.1738	0.89754	0.0:0.0:1.0:0.0	.	848;195;814	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	V	848;814	ENSP00000349244:G848V;ENSP00000336727:G814V	ENSP00000336727:G814V	G	+	2	0	C10orf137	127421788	1.000000	0.71417	0.503000	0.27626	0.281000	0.26958	9.347000	0.97059	2.274000	0.75844	0.637000	0.83480	GGT		0.363	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			11	28	11	28	---	---	---	---
SERGEF	26297	broad.mit.edu	37	11	18026082	18026082	+	Splice_Site	SNP	T	T	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:18026082T>C	ENST00000265965.5	-	4	504	c.353A>G	c.(352-354)gAa>gGa	p.E118G	SERGEF_ENST00000528200.1_Splice_Site_p.E118G|SERGEF_ENST00000532265.1_Splice_Site_p.E4G|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	118					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGACCATTTTCTGCAAAATA	0.453																																						ENST00000265965.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						c.(352-354)gAa>gGa		secretion regulating guanine nucleotide exchange factor							68.0	55.0	59.0					11																	18026082		2200	4293	6493	SO:0001630	splice_region_variant	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18026082T>C	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.353-1A>G	11.37:g.18026082T>C						RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118G|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_Splice_Site_p.E4G	p.E118G	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN			4	504	-			118					Q9UGK9	Splice_Site	SNP	ENST00000265965.5	37	c.353A>G	CCDS7828.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.007427	0.35415	.	.	ENSG00000129158	ENST00000265965;ENST00000528200;ENST00000532265;ENST00000529728;ENST00000530613;ENST00000532389	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.42	1.86	0.25419	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.353469	0.32836	N	0.005592	T	0.72301	0.3443	L	0.58969	1.84	0.33709	D	0.615541	B;B;B;B	0.10296	0.001;0.003;0.001;0.003	B;B;B;B	0.12156	0.003;0.007;0.006;0.007	T	0.67730	-0.5595	10	0.27785	T	0.31	.	7.3811	0.26856	0.0:0.3321:0.0:0.6679	.	4;4;118;118	B4DFC0;E9PMV6;Q9UGK8-2;Q9UGK8	.;.;.;SRGEF_HUMAN	G	118;118;4;4;4;4	ENSP00000265965:E118G;ENSP00000434188:E118G;ENSP00000431314:E4G;ENSP00000437297:E4G;ENSP00000436080:E4G;ENSP00000435898:E4G	ENSP00000265965:E118G	E	-	2	0	SERGEF	17982658	0.946000	0.32159	0.999000	0.59377	0.917000	0.54804	0.575000	0.23729	0.525000	0.28522	0.533000	0.62120	GAA		0.453	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	Missense_Mutation	7	9	7	9	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136892	40136892	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:40136892T>A	ENST00000278198.2	-	2	2914	c.951A>T	c.(949-951)aaA>aaT	p.K317N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	317	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGCCATGTCTTTTATCCACC	0.483																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(949-951)aaA>aaT		leucine rich repeat containing 4C							115.0	100.0	105.0					11																	40136892		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136892T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.951A>T	11.37:g.40136892T>A	ENSP00000278198:p.Lys317Asn					LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N	p.K317N			Q9HCJ2	LRC4C_HUMAN			2	2914	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	317			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.951A>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679957	0.29783	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.76	4.64	0.57946	Cysteine-rich flanking region, C-terminal (1);	0.047663	0.85682	D	0.000000	T	0.07863	0.0197	M	0.71871	2.18	0.49213	D	0.999765	P	0.36171	0.541	B	0.36378	0.223	T	0.03597	-1.1021	10	0.54805	T	0.06	.	9.4435	0.38684	0.0:0.1115:0.0:0.8885	.	317	Q9HCJ2	LRC4C_HUMAN	N	317	ENSP00000278198:K317N;ENSP00000436976:K317N;ENSP00000437132:K317N;ENSP00000434761:K317N	ENSP00000278198:K317N	K	-	3	2	LRRC4C	40093468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.828000	0.27435	2.206000	0.71126	0.533000	0.62120	AAA		0.483	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		27	28	27	28	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2676868	2676868	+	Silent	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:2676868G>A	ENST00000347598.4	+	13	1803	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399655.1_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	601					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L601L(3)|p.L136L(1)|p.L631L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGGCATCCTGGAGACCATCC	0.582																																						ENST00000399655.1																			5	Substitution - coding silent(5)	p.L601L(3)|p.L136L(1)|p.L631L(1)	lung(5)	NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1801-1803)ctG>ctA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						37.0	41.0	40.0					12																	2676868		2197	4298	6495	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676868G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1803G>A	12.37:g.2676868G>A						CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000347598.4_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L	p.L601L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2068	+			601					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1803G>A	CCDS44788.1																																																																																				0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		14	18	14	18	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49427537	49427537	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:49427537G>T	ENST00000301067.7	-	39	10950	c.10951C>A	c.(10951-10953)Caa>Aaa	p.Q3651K	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3651	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTCCGGCTTGCCCACCCGGA	0.662																																						ENST00000301067.7																			0											c.(10951-10953)Caa>Aaa		lysine (K)-specific methyltransferase 2D							21.0	24.0	23.0					12																	49427537		1963	4169	6132	SO:0001583	missense	8085							g.chr12:49427537G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10951C>A	12.37:g.49427537G>T	ENSP00000301067:p.Gln3651Lys						p.Q3651K	NM_003482.3	NP_003473.3					39	10950	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10951C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227624	0.39399	.	.	ENSG00000167548	ENST00000301067	T	0.80653	-1.4	5.34	5.34	0.76211	.	0.000000	0.35555	N	0.003124	T	0.79873	0.4521	N	0.19112	0.55	0.49130	D	0.999752	D	0.67145	0.996	P	0.54759	0.76	T	0.83146	-0.0106	10	0.87932	D	0	.	18.1987	0.89831	0.0:0.0:1.0:0.0	.	3651	O14686	MLL2_HUMAN	K	3651	ENSP00000301067:Q3651K	ENSP00000301067:Q3651K	Q	-	1	0	MLL2	47713804	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	3.428000	0.52792	2.673000	0.90976	0.563000	0.77884	CAA		0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	23	3	23	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109703025	109703025	+	Silent	SNP	T	T	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:109703025T>C	ENST00000338432.7	+	51	7172	c.7053T>C	c.(7051-7053)agT>agC	p.S2351S	ACACB_ENST00000377854.5_Silent_p.S2281S|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2351					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGGAGCTGAGTCACGTGCATA	0.652																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7051-7053)agT>agC		acetyl-CoA carboxylase beta	Biotin(DB00121)						77.0	66.0	70.0					12																	109703025		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109703025T>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7053T>C	12.37:g.109703025T>C						ACACB_ENST00000377854.5_Silent_p.S2281S|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000543201.1_3'UTR	p.S2351S			O00763	ACACB_HUMAN			51	7172	+			2351					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.7053T>C	CCDS31898.1																																																																																				0.652	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		10	74	10	74	---	---	---	---
MGA	23269	broad.mit.edu	37	15	41961930	41961930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:41961930G>T	ENST00000570161.1	+	1	838	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	MGA_ENST00000219905.7_Nonsense_Mutation_p.E280*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCTGACCAAGAAGGGAATAA	0.448																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(838-840)Gaa>Taa		MGA, MAX dimerization protein							62.0	59.0	60.0					15																	41961930		1857	4101	5958	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961930G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.838G>T	15.37:g.41961930G>T	ENSP00000457035:p.Glu280*					MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron	p.E280*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	1019	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	280					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.838G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585625	0.96578	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.74	5.74	0.90152	.	0.822850	0.11346	N	0.573507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000219905:E280X	E	+	1	0	MGA	39749222	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.068000	0.57534	2.873000	0.98535	0.563000	0.77884	GAA		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		3	3	3	3	---	---	---	---
FGF7	2252	broad.mit.edu	37	15	49716687	49716687	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:49716687A>T	ENST00000267843.4	+	2	804	c.193A>T	c.(193-195)Aga>Tga	p.R65*	FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	65					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AGGGGATATAAGAGTGAGAAG	0.423																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(193-195)Aga>Tga		fibroblast growth factor 7	Palifermin(DB00039)						108.0	105.0	106.0					15																	49716687		2196	4295	6491	SO:0001587	stop_gained	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49716687A>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.193A>T	15.37:g.49716687A>T	ENSP00000267843:p.Arg65*					FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*	p.R65*	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	2	804	+		all_lung(180;0.00391)	65					H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	ENST00000267843.4	37	c.193A>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	A	38	7.231976	0.98150	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.7	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3301	0.55035	0.7335:0.2665:0.0:0.0	.	.	.	.	X	65	.	ENSP00000267843:R65X	R	+	1	2	FGF7	47503979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.967000	0.56802	0.977000	0.38444	0.533000	0.62120	AGA		0.423	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	47	3	47	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18052096	18052096	+	Silent	SNP	C	C	T	rs372462304		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18052096C>T	ENST00000205890.5	+	33	7124	c.6786C>T	c.(6784-6786)cgC>cgT	p.R2262R	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCTGGCGCGGCTGGACCG	0.602																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6784-6786)cgC>cgT		myosin XVA				1,4111		0,1,2055	15.0	18.0	17.0		6786	-5.2	1.0	17		17	0,8392		0,0,4196	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6251	TT,TC,CC		0.0,0.0243,0.0080		2262/3531	18052096	1,12503	2056	4196	6252	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052096C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6786C>T	17.37:g.18052096C>T							p.R2262R	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			33	7124	+	all_neural(463;0.228)		2262			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.6786C>T	CCDS42271.1																																																																																				0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		10	10	10	10	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18220605	18220605	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18220605T>G	ENST00000406438.3	+	1	1982	c.1502T>G	c.(1501-1503)gTg>gGg	p.V501G	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	501						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGCCCCCAGGTGGTCCGGAGC	0.532																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1501-1503)gTg>gGg		Smith-Magenis syndrome chromosome region, candidate 8							63.0	65.0	64.0					17																	18220605		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220605T>G	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1502T>G	17.37:g.18220605T>G	ENSP00000385025:p.Val501Gly						p.V501G	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1982	+			501					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1502T>G	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485719	0.26686	.	.	ENSG00000176994	ENST00000406438	T	0.39056	1.1	5.91	5.91	0.95273	.	0.302458	0.32802	N	0.005637	T	0.28366	0.0701	L	0.29908	0.895	0.45076	D	0.998092	P	0.35077	0.483	B	0.27887	0.084	T	0.16012	-1.0417	10	0.72032	D	0.01	-39.7433	9.3903	0.38370	0.0:0.1374:0.0:0.8626	.	501	Q8TEV9	SMCR8_HUMAN	G	501	ENSP00000385025:V501G	ENSP00000385025:V501G	V	+	2	0	SMCR8	18161330	1.000000	0.71417	0.997000	0.53966	0.756000	0.42949	2.076000	0.41548	2.261000	0.74972	0.533000	0.62120	GTG		0.532	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		65	58	65	58	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8143703	8143703	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr18:8143703A>C	ENST00000332175.8	+	14	3263	c.2226A>C	c.(2224-2226)aaA>aaC	p.K742N	PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	742					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATACAGTTAAAATTGCTGGAG	0.448																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2224-2226)aaA>aaC		protein tyrosine phosphatase, receptor type, M							158.0	154.0	156.0					18																	8143703		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8143703A>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2226A>C	18.37:g.8143703A>C	ENSP00000331418:p.Lys742Asn					PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N	p.K742N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			14	3263	+		Colorectal(10;0.234)	742					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2226A>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308041	0.60305	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.50001	1.05;1.11;0.91;0.76	5.92	1.74	0.24563	.	0.051009	0.85682	D	0.000000	T	0.59197	0.2176	M	0.65498	2.005	0.44241	D	0.997082	D;D;D	0.71674	0.984;0.998;0.998	P;D;D	0.76071	0.811;0.987;0.987	T	0.55386	-0.8149	10	0.18276	T	0.48	.	9.7866	0.40679	0.7439:0.0:0.2561:0.0	.	529;742;742	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	742;742;680;529	ENSP00000331418:K742N;ENSP00000382933:K742N;ENSP00000382927:K680N;ENSP00000387608:K529N	ENSP00000331418:K742N	K	+	3	2	PTPRM	8133703	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	1.534000	0.36051	0.460000	0.27045	0.533000	0.62120	AAA		0.448	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			51	54	51	54	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6850726	6850726	+	Silent	SNP	A	A	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:6850726A>C	ENST00000602142.1	+	24	2257	c.2175A>C	c.(2173-2175)ggA>ggC	p.G725G	VAV1_ENST00000596764.1_Silent_p.G693G|VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000304076.2_Silent_p.G703G|VAV1_ENST00000599806.1_Silent_p.G670G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	725	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGCAGAAGGACTGTACCGGA	0.552																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2107-2109)ggA>ggC		vav 1 guanine nucleotide exchange factor							111.0	100.0	104.0					19																	6850726		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6850726A>C		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2175A>C	19.37:g.6850726A>C						VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000602142.1_Silent_p.G725G|VAV1_ENST00000596764.1_Silent_p.G693G	p.G703G	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			23	2203	+			725			SH2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2109A>C	CCDS12174.1																																																																																				0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			27	31	27	31	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42599443	42599443	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:42599443G>T	ENST00000526816.2	-	11	1141	c.1126C>A	c.(1126-1128)Cat>Aat	p.H376N	POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N|POU2F2_ENST00000389341.5_Missense_Mutation_p.H360N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	376					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGTACCATATGGGGGCTGTAG	0.652																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1078-1080)Cat>Aat		POU class 2 homeobox 2							17.0	20.0	19.0					19																	42599443		2201	4300	6501	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42599443G>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1126C>A	19.37:g.42599443G>T	ENSP00000431603:p.His376Asn					POU2F2_ENST00000526816.2_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N	p.H360N	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			11	1144	-		Prostate(69;0.059)	376					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1078C>A	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131628	0.77662	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;T;D	0.83075	-1.61;-1.68;-1.65;-1.39;-1.62	3.99	3.99	0.46301	.	0.577012	0.16047	N	0.232159	T	0.81049	0.4742	L	0.32530	0.975	0.50039	D	0.999849	P;D;P	0.55385	0.913;0.971;0.93	P;B;P	0.50754	0.614;0.388;0.649	T	0.78841	-0.2045	10	0.30078	T	0.28	.	15.3987	0.74818	0.0:0.0:1.0:0.0	.	360;376;360	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	N	360;376;376;360;375;360;376	ENSP00000373992:H360N;ENSP00000339369:H376N;ENSP00000437221:H360N;ENSP00000437224:H360N;ENSP00000436988:H376N	ENSP00000292077:H376N	H	-	1	0	POU2F2	47291283	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.047000	0.57383	2.214000	0.71695	0.655000	0.94253	CAT		0.652	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			7	11	7	11	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44674562	44674562	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr20:44674562C>T	ENST00000454036.2	+	13	1733	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L539F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	562					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGCCCTGCTCCTGACTGC	0.587																																						ENST00000243964.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1615-1617)Ctc>Ttc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						115.0	98.0	104.0					20																	44674562		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44674562C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1684C>T	20.37:g.44674562C>T	ENSP00000387694:p.Leu562Phe					SLC12A5_ENST00000454036.2_Missense_Mutation_p.L562F	p.L539F	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN			13	1713	+		Myeloproliferative disorder(115;0.0122)	562					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1615C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318610	0.81469	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.99014	-5.33;-5.33	4.46	4.46	0.54185	Amino acid permease domain (1);	0.000000	0.64402	D	0.000018	D	0.98131	0.9383	L	0.52364	1.645	0.80722	D	1	P;B	0.40032	0.699;0.434	P;B	0.46339	0.513;0.328	D	0.98720	1.0708	10	0.45353	T	0.12	.	15.858	0.79000	0.0:1.0:0.0:0.0	.	562;539	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	F	562;539	ENSP00000387694:L562F;ENSP00000243964:L539F	ENSP00000243964:L539F	L	+	1	0	SLC12A5	44107969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.796000	0.62496	2.317000	0.78254	0.563000	0.77884	CTC		0.587	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	81	5	81	---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41318452	41318452	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr22:41318452C>A	ENST00000357137.4	+	8	1255	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	391					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GATGCTGACCCTGATAGGACA	0.453																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1171-1173)Ctg>Atg		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							233.0	228.0	230.0					22																	41318452		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41318452C>A		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1171C>A	22.37:g.41318452C>A	ENSP00000349658:p.Leu391Met					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	p.L391M	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			8	1255	+			391					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1171C>A	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530661	0.45073	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.77620	-1.11;-1.11	5.85	1.55	0.23275	Peptidase M24, structural domain (3);	0.071318	0.56097	D	0.000021	T	0.63604	0.2525	L	0.41236	1.265	0.48901	D	0.999721	P	0.38617	0.64	B	0.36567	0.228	T	0.57464	-0.7807	10	0.49607	T	0.09	-5.2218	5.0413	0.14460	0.1347:0.5862:0.0:0.2791	.	391	Q9NQH7	XPP3_HUMAN	M	391;368	ENSP00000349658:L391M;ENSP00000441942:L368M	ENSP00000349658:L391M	L	+	1	2	XPNPEP3	39648398	0.886000	0.30341	0.046000	0.18839	0.721000	0.41392	1.751000	0.38339	0.406000	0.25560	0.655000	0.94253	CTG		0.453	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		5	209	5	209	---	---	---	---
C14orf79	122616	broad.mit.edu	37	14	105461072	105461072	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr14:105461072delA	ENST00000547315.1	+	5	1593	c.954delA	c.(952-954)acafs	p.T318fs	C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549240.1_Frame_Shift_Del_p.T76fs	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	318										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCAAACTGACACTCTTTAATA	0.473																																						ENST00000549240.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(226-228)acafs		chromosome 14 open reading frame 79							72.0	72.0	72.0					14																	105461072		1916	4137	6053	SO:0001589	frameshift_variant	122616							g.chr14:105461072delA		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.954delA	14.37:g.105461072delA	ENSP00000450114:p.Thr318fs					C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000547315.1_Frame_Shift_Del_p.T318fs	p.T76fs			Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		3	2036	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	318					B2RPK9|Q9BTP4	Frame_Shift_Del	DEL	ENST00000547315.1	37	c.228delA	CCDS42000.1																																																																																				0.473	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		35	48	35	48	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46772020	46772020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr16:46772020delC	ENST00000394809.4	-	3	719	c.604delG	c.(604-606)gagfs	p.E202fs	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	202					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCTCTCCGCTGTCCCC	0.637																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(604-606)gagfs		myosin light chain kinase 3							11.0	11.0	11.0					16																	46772020		2125	4192	6317	SO:0001589	frameshift_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46772020delC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.604delG	16.37:g.46772020delC	ENSP00000378288:p.Glu202fs					MYLK3_ENST00000536476.1_Intron	p.E202fs	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			3	719	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	202					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Frame_Shift_Del	DEL	ENST00000394809.4	37	c.604delG	CCDS10723.2																																																																																				0.637	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		9	16	9	16	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70470452	70470480	+	Frame_Shift_Del	DEL	CCCGGCCCTTTGTGACACACTTGAGCGTA	CCCGGCCCTTTGTGACACACTTGAGCGTA	-	rs377219001		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	ENST00000353904.2	-	5	1062_1090	c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	c.(874-903)ctacgctcaagtgtgtcacaaagggccgggfs	p.LRSSVSQRAG292fs	ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	292					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCGCCCGGCCCTTTGTGACACACTTGAGCGTAGGGACATGCG	0.581																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(874-903)ctacgctcaagtgtgtcacaaagggccgggfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	X.37:g.70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	ENSP00000343909:p.Leu292fs					ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs	p.LRSSVSQRAG292fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			5	1572_1600	-	Renal(35;0.156)		292					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	CCDS14409.1																																																																																				0.581	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		2	4	2	4	---	---	---	---
