#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MACF1	23499	broad.mit.edu	37	1	39908220	39908220	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:39908220T>C	ENST00000372915.3	+	76	18869	c.18782T>C	c.(18781-18783)gTt>gCt	p.V6261A	MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000564288.1_Missense_Mutation_p.V6362A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6261					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCATTGAAGTTGAGCTCGCA	0.423																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19084-19086)gTt>gCt		microtubule-actin crosslinking factor 1							65.0	65.0	65.0					1																	39908220		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39908220T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18782T>C	1.37:g.39908220T>C	ENSP00000362006:p.Val6261Ala					MACF1_ENST00000372915.3_Missense_Mutation_p.V6261A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A	p.V6362A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		77	19862	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6370					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.19085T>C		.	.	.	.	.	.	.	.	.	.	T	24.5	4.536194	0.85812	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	6.03	6.03	0.97812	.	0.000000	0.56097	D	0.000039	T	0.46698	0.1406	N	0.12569	0.235	0.80722	D	1	D;D	0.64830	0.994;0.961	D;P	0.64687	0.928;0.774	T	0.54774	-0.8243	10	0.66056	D	0.02	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	6261;4303	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	A	4303;6261;4303;4303;4173;4805	ENSP00000439537:V4303A;ENSP00000362006:V6261A;ENSP00000354573:V4303A;ENSP00000313438:V4303A;ENSP00000444364:V4173A;ENSP00000289893:V4805A	ENSP00000289893:V4805A	V	+	2	0	MACF1	39680807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	GTT		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	68	0	0	0	1	0	7	68				
C19orf44	84167	broad.mit.edu	37	19	16611793	16611793	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:16611793C>A	ENST00000221671.3	+	2	346	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	64										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACACTTACTCCTGAAAGAGAA	0.478																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(190-192)Ctg>Atg		chromosome 19 open reading frame 44							107.0	120.0	116.0					19																	16611793		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611793C>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.190C>A	19.37:g.16611793C>A	ENSP00000221671:p.Leu64Met					C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron	p.L64M	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	346	+			64					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.190C>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075981	0.36662	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.05	-0.149	0.13420	.	1.086930	0.07136	N	0.846428	T	0.49406	0.1555	L	0.54323	1.7	0.09310	N	1	D;D	0.59767	0.972;0.986	P;P	0.59825	0.773;0.864	T	0.39251	-0.9623	9	0.33940	T	0.23	-2.4415	4.9	0.13769	0.0:0.5282:0.1634:0.3084	.	64;64	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	M	64	.	ENSP00000221671:L64M	L	+	1	2	C19orf44	16472793	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.235000	0.09016	0.160000	0.19432	0.655000	0.94253	CTG		0.478	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		63	96	1	0	2.40885e-21	1	2.81032e-21	63	96				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	252	0	0	0	1	0	5	252				
DDR1	780	broad.mit.edu	37	6	30859877	30859877	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr6:30859877A>G	ENST00000324771.8	+	9	1312	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	255	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTATGACTATGTGGGATGG	0.577																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(763-765)tAt>tGt		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						146.0	146.0	146.0					6																	30859877		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859877A>G	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.764A>G	6.37:g.30859877A>G	ENSP00000318217:p.Tyr255Cys					DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C	p.Y255C			Q08345	DDR1_HUMAN			9	1312	+			255					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.764A>G	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.43|19.43	3.825953|3.825953	0.71143|0.71143	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000446312|ENST00000460944;ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521	D|T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.97959|0.23147	-4.63|1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.37812|0.37812	0.1017|0.1017	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	B|D;D;D;D	0.12630|0.89917	0.006|1.0;1.0;1.0;0.999	B|D;D;D;D	0.15870|0.97110	0.014|0.999;0.996;1.0;0.995	T|T	0.32877|0.32877	-0.9890|-0.9890	9|10	0.02654|0.87932	T|D	1|0	.|.	10.8399|10.8399	0.46708|0.46708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	222|273;51;255;255	Q08345-4|B7Z2K0;A2ABM8;Q08345-5;Q08345	.|.;.;.;DDR1_HUMAN	V|C	222|255;255;255;255;255;255;255;255;255;255;273;255;255;51	ENSP00000405998:M222V|ENSP00000426420:Y255C;ENSP00000318217:Y255C;ENSP00000407699:Y255C;ENSP00000406091:Y255C;ENSP00000365753:Y255C;ENSP00000365759:Y255C;ENSP00000365754:Y255C;ENSP00000390593:Y255C;ENSP00000365752:Y255C;ENSP00000405039:Y255C;ENSP00000422442:Y273C;ENSP00000365751:Y255C;ENSP00000427552:Y255C;ENSP00000398682:Y51C	ENSP00000405998:M222V|ENSP00000318217:Y255C	M|Y	+|+	1|2	0|0	DDR1|DDR1	30967856|30967856	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	6.836000|6.836000	0.75349|0.75349	1.724000|1.724000	0.51502|0.51502	0.379000|0.379000	0.24179|0.24179	ATG|TAT		0.577	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		8	129	0	0	0	1	0	8	129				
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(313-315)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						129.0	113.0	119.0					4																	96761615		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761615G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp						p.G105D	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	377	+		Hepatocellular(203;0.114)	105					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.314G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			5	142	0	0	0	1	0	5	142				
PFKL	5211	broad.mit.edu	37	21	45745845	45745845	+	Splice_Site	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr21:45745845G>A	ENST00000349048.4	+	20	2046	c.1991G>A	c.(1990-1992)gGt>gAt	p.G664D	AP001062.8_ENST00000422357.1_RNA|PFKL_ENST00000403390.1_Splice_Site_p.G711D	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	664	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTTTCCAGGGTGGCGCTCCA	0.657																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.e21-1		phosphofructokinase, liver							65.0	59.0	61.0					21																	45745845		2203	4300	6503	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45745845G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1990-1G>A	21.37:g.45745845G>A						PFKL_ENST00000349048.4_Splice_Site_p.G664_splice	p.G711_splice			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	21	2132	+			664					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.2130_splice	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363641	0.61513	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.88509	-2.39;-2.39	4.13	4.13	0.48395	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.058141	0.64402	D	0.000002	D	0.96950	0.9004	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98766	1.0726	10	0.87932	D	0	-15.6276	15.5329	0.75977	0.0:0.0:1.0:0.0	.	664;711	P17858;P17858-2	K6PL_HUMAN;.	D	664;457;711	ENSP00000269848:G664D;ENSP00000384038:G711D	ENSP00000269848:G664D	G	+	2	0	PFKL	44570273	1.000000	0.71417	0.926000	0.36857	0.085000	0.17905	9.259000	0.95561	2.047000	0.60756	0.491000	0.48974	GGT		0.657	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Missense_Mutation	7	8	0	0	0	1	0	7	8				
KRTAP4-8	728224	broad.mit.edu	37	17	39253906	39253906	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr17:39253906C>A	ENST00000333822.4	-	1	487	c.431G>T	c.(430-432)tGc>tTc	p.C144F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	144	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ggggcggcagcagctggattc	0.672																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(430-432)tGc>tTc		keratin associated protein 4-8							11.0	15.0	14.0					17																	39253906		692	1577	2269	SO:0001583	missense	728224					keratin filament		g.chr17:39253906C>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.431G>T	17.37:g.39253906C>A	ENSP00000328444:p.Cys144Phe						p.C144F	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	487	-			144			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.431G>T	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.061217	0.36373	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02863	4.13	3.73	3.73	0.42828	.	0.000000	0.49916	U	0.000125	T	0.18425	0.0442	H	0.95328	3.655	0.35194	D	0.773676	D	0.59357	0.985	D	0.68039	0.955	T	0.20240	-1.0281	10	0.72032	D	0.01	.	7.5536	0.27812	0.0:0.8775:0.0:0.1225	.	144	Q9BYQ9	KRA48_HUMAN	F	144;114	ENSP00000328444:C144F	ENSP00000414561:C114F	C	-	2	0	KRTAP4-8	36507432	1.000000	0.71417	0.415000	0.26534	0.076000	0.17211	1.865000	0.39479	1.794000	0.52575	0.449000	0.29647	TGC		0.672	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	11	1	0	0.150653	1	0.150653	4	11				
CDH4	1002	broad.mit.edu	37	20	60485514	60485514	+	Missense_Mutation	SNP	G	G	A	rs557605363	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr20:60485514G>A	ENST00000360469.5	+	9	1313	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	CDH4_ENST00000543233.1_Missense_Mutation_p.V335M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	409	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTGGAGACCGTGGTCGCAAA	0.532													G|||	3	0.000599042	0.0	0.0	5008	,	,		21776	0.003		0.0	False		,,,				2504	0.0					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1225-1227)Gtg>Atg		cadherin 4, type 1, R-cadherin (retinal)							103.0	82.0	90.0					20																	60485514		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60485514G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1225G>A	20.37:g.60485514G>A	ENSP00000353656:p.Val409Met					CDH4_ENST00000543233.1_Missense_Mutation_p.V335M	p.V409M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		9	1313	+			409			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1225G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579965	0.28180	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.67	4.67	0.58626	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.74546	2.27	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.71144	-0.4678	9	.	.	.	.	17.1517	0.86780	0.0:0.0:1.0:0.0	.	409	P55283	CADH4_HUMAN	M	409;317;335	ENSP00000353656:V409M;ENSP00000443301:V335M	.	V	+	1	0	CDH4	59918909	1.000000	0.71417	0.705000	0.30386	0.109000	0.19521	3.658000	0.54482	2.149000	0.67028	0.561000	0.74099	GTG		0.532	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		16	23	0	0	0	1	0	16	23				
LRRK1	79705	broad.mit.edu	37	15	101595338	101595338	+	Silent	SNP	G	G	A	rs547652242		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr15:101595338G>A	ENST00000388948.3	+	27	4601	c.4242G>A	c.(4240-4242)agG>agA	p.R1414R	LRRK1_ENST00000284395.5_Silent_p.R1411R|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATTTCGAGGCAGTCATTCC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19432	0.0		0.001	False		,,,				2504	0.0					ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4231-4233)agG>agA		leucine-rich repeat kinase 1							102.0	102.0	102.0					15																	101595338		2049	4188	6237	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595338G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4242G>A	15.37:g.101595338G>A						RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.R1414R	p.R1411R			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		28	4633	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1414			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4233G>A	CCDS42086.1																																																																																				0.537	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		24	43	0	0	0	1	0	24	43				
MYH7	4625	broad.mit.edu	37	14	23885342	23885342	+	Silent	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr14:23885342G>T	ENST00000355349.3	-	34	4986	c.4824C>A	c.(4822-4824)cgC>cgA	p.R1608R	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCTCGTTGCGGCTGCGTG	0.627																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4822-4824)cgC>cgA		myosin, heavy chain 7, cardiac muscle, beta							175.0	139.0	151.0					14																	23885342		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885342G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4824C>A	14.37:g.23885342G>T							p.R1608R	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4986	-	all_cancers(95;2.54e-05)		1608					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4824C>A	CCDS9601.1																																																																																				0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		11	96	1	0	0.010729	1	0.0112655	11	96				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	295	0	0	0	1	0	6	295				
NDUFB9	4715	broad.mit.edu	37	8	125555467	125555467	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr8:125555467A>G	ENST00000276689.3	+	2	325	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V|NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V|NDUFB9_ENST00000522532.1_Missense_Mutation_p.I81V	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	81					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACAGCCATACATCTTCCCTGA	0.473																																						ENST00000522532.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(241-243)Atc>Gtc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	NADH(DB00157)						100.0	87.0	92.0					8																	125555467		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555467A>G	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.241A>G	8.37:g.125555467A>G	ENSP00000276689:p.Ile81Val					NDUFB9_ENST00000276689.3_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V|NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V	p.I81V			Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	288	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		81					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.241A>G	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669477	0.29693	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.74;-0.76	5.46	4.3	0.51218	.	0.167332	0.52532	N	0.000074	T	0.70833	0.3269	L	0.32530	0.975	0.37366	D	0.911449	B;B	0.18013	0.025;0.001	B;B	0.17098	0.017;0.006	T	0.62530	-0.6835	10	0.08599	T	0.76	-11.604	10.0546	0.42237	0.8593:0.0:0.1407:0.0	.	81;81	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	V	81;81;81;70	ENSP00000276689:I81V;ENSP00000428282:I81V;ENSP00000431115:I81V;ENSP00000430322:I70V	ENSP00000276689:I81V	I	+	1	0	NDUFB9	125624648	0.999000	0.42202	0.974000	0.42286	0.540000	0.34992	1.813000	0.38962	0.899000	0.36444	0.533000	0.62120	ATC		0.473	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		5	60	0	0	0	1	0	5	60				
OR5AS1	219447	broad.mit.edu	37	11	55798756	55798756	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr11:55798756A>G	ENST00000313555.1	+	1	862	c.862A>G	c.(862-864)Ata>Gta	p.I288V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTAATCCAATAATTTATAG	0.333																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(862-864)Ata>Gta		olfactory receptor, family 5, subfamily AS, member 1							51.0	52.0	52.0					11																	55798756		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798756A>G	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.862A>G	11.37:g.55798756A>G	ENSP00000324111:p.Ile288Val						p.I288V	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	862	+	Esophageal squamous(21;0.00693)		288					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.862A>G	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	A	2.798	-0.249700	0.05867	.	.	ENSG00000181785	ENST00000313555	T	0.40756	1.02	5.0	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36002	U	0.002844	T	0.20861	0.0502	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.11131	-1.0600	10	0.49607	T	0.09	.	1.1512	0.01786	0.5269:0.1537:0.171:0.1483	.	288	Q8N127	O5AS1_HUMAN	V	288	ENSP00000324111:I288V	ENSP00000324111:I288V	I	+	1	0	OR5AS1	55555332	0.000000	0.05858	0.067000	0.19924	0.233000	0.25261	-1.320000	0.02700	0.741000	0.32674	0.472000	0.43445	ATA		0.333	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		3	68	0	0	0	1	0	3	68				
MBTPS1	8720	broad.mit.edu	37	16	84121008	84121008	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:84121008A>C	ENST00000343411.3	-	9	1584	c.1089T>G	c.(1087-1089)ttT>ttG	p.F363L	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	363	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTATCTTCAAAGTCAATGC	0.383																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1087-1089)ttT>ttG		membrane-bound transcription factor peptidase, site 1							109.0	102.0	104.0					16																	84121008		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84121008A>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1089T>G	16.37:g.84121008A>C	ENSP00000344223:p.Phe363Leu					MBTPS1_ENST00000569770.1_5'UTR	p.F363L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			9	1584	-			363			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1089T>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.403232	0.42613	.	.	ENSG00000140943	ENST00000343411	D	0.87256	-2.23	5.26	0.411	0.16392	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	N	0.05383	-0.06	0.54753	D	0.999989	P	0.38788	0.647	P	0.48873	0.593	T	0.70733	-0.4791	10	0.29301	T	0.29	-17.0748	11.1837	0.48644	0.6018:0.0:0.3982:0.0	.	363	Q14703	MBTP1_HUMAN	L	363	ENSP00000344223:F363L	ENSP00000344223:F363L	F	-	3	2	MBTPS1	82678509	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.640000	0.46579	-0.139000	0.11414	0.460000	0.39030	TTT		0.383	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		15	84	0	0	0	1	0	15	84				
MYH8	4626	broad.mit.edu	37	17	10318896	10318896	+	Splice_Site	SNP	C	C	T	rs181130030		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr17:10318896C>T	ENST00000403437.2	-	7	635	c.541G>A	c.(541-543)Gga>Aga	p.G181R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	181	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGATTCTCCGCTGTCAAAC	0.413									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	0.0	0.0	5008	,	,		21006	0.001		0.0	False		,,,				2504	0.0					ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e7-1		myosin, heavy chain 8, skeletal muscle, perinatal							112.0	105.0	108.0					17																	10318896		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318896C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.540-1G>A	17.37:g.10318896C>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.G181_splice	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			7	635	-			181			Myosin head-like.		Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.539_splice	CCDS11153.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.25	3.791228	0.70452	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.96396	-4.0	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.000000	0.40640	U	0.001048	D	0.98950	0.9643	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99301	1.0901	10	0.87932	D	0	.	17.2389	0.87007	0.0:1.0:0.0:0.0	.	181	P13535	MYH8_HUMAN	R	181	ENSP00000384330:G181R	ENSP00000252173:G181R	G	-	1	0	MYH8	10259621	1.000000	0.71417	0.941000	0.38009	0.569000	0.35902	7.522000	0.81844	2.308000	0.77769	0.591000	0.81541	GGA		0.413	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Missense_Mutation	53	63	0	0	0	1	0	53	63				
RALGDS	5900	broad.mit.edu	37	9	135979208	135979208	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:135979208C>T	ENST00000372050.3	-	11	1705	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S	RALGDS_ENST00000393160.3_Missense_Mutation_p.G507S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	562	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAACGGTGCCCTGGATGATG	0.607			T	CIITA	"""PMBL, Hodgkin Lymphona, """						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1519-1521)Ggc>Agc		ral guanine nucleotide dissociation stimulator							111.0	81.0	91.0					9																	135979208		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135979208C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1684G>A	9.37:g.135979208C>T	ENSP00000361120:p.Gly562Ser		OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1622	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000372050.3_Missense_Mutation_p.G562S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S	p.G507S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	11	1872	-			562			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1519G>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438628	0.96168	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.53	5.53	0.82687	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.207005	0.35407	N	0.003227	T	0.59473	0.2196	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.994;1.0;1.0;0.983;1.0;1.0;1.0	P;D;D;D;D;D;D;D	0.97110	0.881;0.982;1.0;1.0;0.962;1.0;1.0;1.0	T	0.63175	-0.6696	10	0.87932	D	0	.	18.4285	0.90617	0.0:1.0:0.0:0.0	.	633;533;562;550;507;561;550;562	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	S	562;550;507;259;561;633;533;122	ENSP00000361120:G562S;ENSP00000361117:G550S;ENSP00000376867:G507S;ENSP00000376864:G561S;ENSP00000437518:G633S;ENSP00000361132:G533S;ENSP00000391814:G122S	ENSP00000361117:G550S	G	-	1	0	RALGDS	134969029	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.755000	0.85180	2.587000	0.87381	0.591000	0.81541	GGC		0.607	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		24	51	0	0	0	1	0	24	51				
ZNF91	7644	broad.mit.edu	37	19	23544860	23544860	+	Silent	SNP	T	T	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:23544860T>A	ENST00000300619.7	-	4	1126	c.921A>T	c.(919-921)tcA>tcT	p.S307S	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.S275S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGCAAGGGTTGAAGAATGGC	0.398																																						ENST00000300619.7																			0											c.(919-921)tcA>tcT		zinc finger protein 91							75.0	79.0	78.0					19																	23544860		2170	4285	6455	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544860T>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.921A>T	19.37:g.23544860T>A						ZNF91_ENST00000397082.2_Silent_p.S275S|ZNF91_ENST00000599743.1_Intron	p.S307S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1126	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	307					A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.921A>T	CCDS42541.1																																																																																				0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		53	81	0	0	0	1	0	53	81				
SIGLEC5	8778	broad.mit.edu	37	19	52115643	52115643	+	Silent	SNP	G	G	A	rs141897891	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:52115643G>A	ENST00000534261.2	-	10	1896	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	SIGLEC5_ENST00000429354.3_Silent_p.P499P|SIGLEC5_ENST00000222107.4_Silent_p.P499P|SIGLEC5_ENST00000599649.1_Silent_p.P499P|SIGLEC5_ENST00000570106.2_Silent_p.P499P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGGGGCTGTCTG	0.507													A|||	4	0.000798722	0.003	0.0	5008	,	,		19083	0.0		0.0	False		,,,				2504	0.0					ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1495-1497)ccC>ccT		sialic acid binding Ig-like lectin 5		A		5,4401	822.8+/-416.5	0,5,2198	73.0	77.0	76.0		1497	-6.3	0.0	19	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	SIGLEC5	NM_003830.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		499/552	52115643	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52115643G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1497C>T	19.37:g.52115643G>A						SIGLEC5_ENST00000570106.2_Silent_p.P499P|SIGLEC5_ENST00000534261.2_Silent_p.P499P|SIGLEC5_ENST00000599649.1_Silent_p.P499P|SIGLEC5_ENST00000429354.3_Silent_p.P499P	p.P499P			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	9	1635	-		all_neural(266;0.0726)	499		P -> A (in dbSNP:rs3829655).				Silent	SNP	ENST00000534261.2	37	c.1497C>T	CCDS33088.1																																																																																				0.507	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		35	37	0	0	0	1	0	35	37				
XRN1	54464	broad.mit.edu	37	3	142145597	142145597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr3:142145597C>T	ENST00000264951.4	-	3	512	c.395G>A	c.(394-396)tGt>tAt	p.C132Y	XRN1_ENST00000544157.1_Intron|XRN1_ENST00000463916.1_Missense_Mutation_p.C132Y|XRN1_ENST00000392981.2_Missense_Mutation_p.C132Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	132					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGGTGTGATACAGTTGGAATC	0.333																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(394-396)tGt>tAt		5'-3' exoribonuclease 1							163.0	158.0	160.0					3																	142145597		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142145597C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.395G>A	3.37:g.142145597C>T	ENSP00000264951:p.Cys132Tyr					XRN1_ENST00000463916.1_Missense_Mutation_p.C132Y|XRN1_ENST00000392981.2_Missense_Mutation_p.C132Y|XRN1_ENST00000544157.1_Intron	p.C132Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			3	512	-			132					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.395G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671398	0.88348	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.35421	1.31;1.32	5.68	5.68	0.88126	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.76377	-0.2981	10	0.87932	D	0	-16.1844	20.1554	0.98111	0.0:1.0:0.0:0.0	.	132;132;132	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	Y	132	ENSP00000264951:C132Y;ENSP00000376707:C132Y	ENSP00000264951:C132Y	C	-	2	0	XRN1	143628287	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.720000	0.84759	2.838000	0.97847	0.591000	0.81541	TGT		0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		37	44	0	0	0	1	0	37	44				
MST1L	11223	broad.mit.edu	37	1	17083816	17083816	+	RNA	SNP	G	G	A	rs11260920	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:17083816G>A	ENST00000455405.2	-	0	772							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GTGCATACTCGGTTGGGGATT	0.572																																						ENST00000455405.2																			0																																																			0							g.chr1:17083816G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083816G>A														0	772	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	16.12	3.032156	0.54790	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.210084	0.23710	N	0.045334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4822	0.07606	1.0E-4:1.0E-4:0.5547:0.4451	rs11260920;rs11260920	.	.	.	X	661;687	.	ENSP00000439273:R661X	R	-	1	2	MST1P9	16956403	1.000000	0.71417	0.918000	0.36340	0.000000	0.00434	1.791000	0.38744	0.502000	0.28037	0.000000	0.15137	CGA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	34	0	0	0	1	0	3	34				
TPO	7173	broad.mit.edu	37	2	1480927	1480927	+	Missense_Mutation	SNP	G	G	A	rs528368360		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:1480927G>A	ENST00000345913.4	+	8	980	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G297S|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G297S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	297					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCCTGCGGCACCGGGGA	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		9489	0.0		0.0	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(889-891)Ggc>Agc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						12.0	14.0	14.0					2																	1480927		2196	4283	6479	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480927G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.889G>A	2.37:g.1480927G>A	ENSP00000318820:p.Gly297Ser					TPO_ENST00000337415.3_Missense_Mutation_p.G297S|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron	p.G297S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	980	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	297					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.889G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379893	0.42207	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.99	3.19	0.36642	.	0.333957	0.33005	N	0.005389	T	0.79667	0.4485	M	0.64170	1.965	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.988	P;P;P	0.60068	0.868;0.686;0.791	T	0.77520	-0.2557	10	0.49607	T	0.09	-35.0725	9.5582	0.39353	0.2286:0.0:0.7714:0.0	.	297;297;297	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	S	297;297;297;297;297;226	ENSP00000337263:G297S;ENSP00000318820:G297S;ENSP00000263886:G297S;ENSP00000329869:G297S;ENSP00000371636:G297S;ENSP00000405788:G226S	ENSP00000329869:G297S	G	+	1	0	TPO	1459934	0.565000	0.26610	0.955000	0.39395	0.023000	0.10783	1.106000	0.31098	0.518000	0.28383	0.460000	0.39030	GGC		0.692	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	8	0	0	0	1	0	3	8				
LCE1C	353133	broad.mit.edu	37	1	152777634	152777634	+	Silent	SNP	G	G	A	rs551622346		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152777634G>A	ENST00000607093.1	-	1	320	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_ENST00000368768.1_Silent_p.G107G			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(319-321)ggC>ggT		late cornified envelope 1C																																				SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777634G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.321C>T	1.37:g.152777634G>A						LCE1C_ENST00000607093.1_Silent_p.G107G	p.G107G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	371	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		107			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.321C>T	CCDS1026.1																																																																																				0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		6	33	0	0	0	1	0	6	33				
IGKV2-30	28919	broad.mit.edu	37	2	89544288	89544288	+	RNA	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:89544288G>T	ENST00000468494.1	-	0	365									immunoglobulin kappa variable 2-30																		CTTGCATGCAGTAATAAACCC	0.567																																						ENST00000468494.1																			0																				44.0	42.0	43.0					2																	89544288		1822	4037	5859			0							g.chr2:89544288G>T	X63403		2p11.2	2012-02-08			ENSG00000243238	ENSG00000243238		"""Immunoglobulins / IGK locus"""	5785	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151692		2.37:g.89544288G>T														0	365	-									RNA	SNP	ENST00000468494.1	37																																																																																						0.567	IGKV2-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323491.1	NG_000834		4	141	1	0	0.00909568	1	0.00979535	4	141				
TNP1	7141	broad.mit.edu	37	2	217724631	217724631	+	Missense_Mutation	SNP	G	G	A	rs561435538		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:217724631G>A	ENST00000236979.2	-	1	156	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	AC007563.5_ENST00000447289.1_RNA|AC007563.5_ENST00000607591.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGCCCCGTTTCCTACTT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20388	0.001		0.0	False		,,,				2504	0.0					ENST00000236979.2																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(127-129)Cgg>Tgg		transition protein 1 (during histone to protamine replacement)							217.0	195.0	203.0					2																	217724631		2203	4300	6503	SO:0001583	missense	7141				chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	g.chr2:217724631G>A		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.127C>T	2.37:g.217724631G>A	ENSP00000236979:p.Arg43Trp					AC007563.5_ENST00000447289.1_RNA	p.R43W	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	156	-		Renal(207;0.0822)	43						Missense_Mutation	SNP	ENST00000236979.2	37	c.127C>T	CCDS2406.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957505	0.34565	.	.	ENSG00000118245	ENST00000236979	.	.	.	5.55	-1.5	0.08691	.	0.000000	0.52532	D	0.000080	T	0.64918	0.2642	.	.	.	0.21105	N	0.99979	D	0.89917	1.0	D	0.76071	0.987	T	0.64807	-0.6320	8	0.87932	D	0	-0.9614	15.5104	0.75776	0.0:0.0:0.2376:0.7624	.	43	P09430	STP1_HUMAN	W	43	.	ENSP00000236979:R43W	R	-	1	2	TNP1	217432876	0.771000	0.28555	0.434000	0.26772	0.816000	0.46133	0.173000	0.16724	-0.090000	0.12462	-0.182000	0.12963	CGG		0.552	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		49	94	0	0	0	1	0	49	94				
DENND1A	57706	broad.mit.edu	37	9	126146148	126146148	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:126146148C>T	ENST00000373624.2	-	21	1823	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	541					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCCTCGTCGCCTTCCGCGCT	0.657																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1621-1623)gGc>gAc		DENN/MADD domain containing 1A							76.0	76.0	76.0					9																	126146148		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146148C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1622G>A	9.37:g.126146148C>T	ENSP00000362727:p.Gly541Asp					DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR	p.G541D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			21	1823	-			541					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1622G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154272	0.57259	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.30981	3.16;1.51;2.82	4.22	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.75447	2.3	0.80722	D	1	D;D;D;B	0.89917	0.999;0.999;1.0;0.113	D;D;D;B	0.74348	0.939;0.933;0.983;0.061	T	0.47873	-0.9083	10	0.33141	T	0.24	-14.3664	12.0307	0.53396	0.0:0.9147:0.0:0.0853	.	552;542;541;404	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	D	541;326;552	ENSP00000362727:G541D;ENSP00000437457:G326D;ENSP00000377766:G552D	ENSP00000362727:G541D	G	-	2	0	DENND1A	125185969	0.996000	0.38824	0.014000	0.15608	0.654000	0.38779	3.929000	0.56514	0.771000	0.33359	0.555000	0.69702	GGC		0.657	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		6	100	0	0	0	1	0	6	100				
CSAG4	100130935	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																														0							g.chrX:151896231A>G	BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896231A>G								NR_073432.1						0	499	-									RNA	SNP	ENST00000361201.4	37																																																																																						0.517	CSAG4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058758.2			5	27	0	0	0	1	0	5	27				
FLG	2312	broad.mit.edu	37	1	152280616	152280616	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152280616C>G	ENST00000368799.1	-	3	6781	c.6746G>C	c.(6745-6747)aGt>aCt	p.S2249T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2249	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCCTCACTGTCACTGTC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6745-6747)aGt>aCt		filaggrin							206.0	205.0	206.0					1																	152280616		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280616C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6746G>C	1.37:g.152280616C>G	ENSP00000357789:p.Ser2249Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2249T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6781	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2249			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6746G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	8.441	0.850752	0.17034	.	.	ENSG00000143631	ENST00000368799	T	0.11063	2.81	3.75	3.75	0.43078	.	.	.	.	.	T	0.19604	0.0471	M	0.85099	2.735	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.07693	-1.0759	9	0.27082	T	0.32	.	11.4072	0.49904	0.0:1.0:0.0:0.0	.	2249	P20930	FILA_HUMAN	T	2249	ENSP00000357789:S2249T	ENSP00000357789:S2249T	S	-	2	0	FLG	150547240	0.000000	0.05858	0.005000	0.12908	0.023000	0.10783	-0.335000	0.07873	1.814000	0.52955	0.436000	0.28706	AGT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	325	0	0	0	1	0	6	325				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	60	0	0	0	1	0	3	60				
LMCD1	29995	broad.mit.edu	37	3	8578934	8578934	+	Silent	SNP	C	C	T	rs35113439	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr3:8578934C>T	ENST00000157600.3	+	3	427	c.195C>T	c.(193-195)gaC>gaT	p.D65D	LMCD1_ENST00000454244.1_5'UTR|LMCD1_ENST00000397386.3_Intron|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.D65D	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	65					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ACCTAGAAGACGATCGGAAAA	0.532													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18460	0.0		0.0	False		,,,				2504	0.0					ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(193-195)gaC>gaT		LIM and cysteine-rich domains 1		C		9,4397	15.5+/-35.6	0,9,2194	81.0	76.0	78.0		195	-11.0	0.1	3	dbSNP_126	78	0,8600		0,0,4300	no	coding-synonymous	LMCD1	NM_014583.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		65/366	8578934	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8578934C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.195C>T	3.37:g.8578934C>T						LMCD1_ENST00000535732.1_Silent_p.D65D|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_5'UTR|LMCD1-AS1_ENST00000439407.1_RNA	p.D65D	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	3	427	+			65					B4DG80	Silent	SNP	ENST00000157600.3	37	c.195C>T	CCDS33688.1																																																																																				0.532	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		22	35	0	0	0	1	0	22	35				
KSR2	283455	broad.mit.edu	37	12	118199016	118199016	+	Silent	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr12:118199016C>T	ENST00000339824.5	-	4	1513	c.786G>A	c.(784-786)ccG>ccA	p.P262P	KSR2_ENST00000425217.1_Silent_p.P233P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	262	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGTGCGCGGCGGGGTGC	0.751																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(697-699)ccG>ccA		kinase suppressor of ras 2							46.0	58.0	55.0					12																	118199016		1840	4058	5898	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199016C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.786G>A	12.37:g.118199016C>T						KSR2_ENST00000339824.5_Silent_p.P262P	p.P233P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	753	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		262			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.699G>A																																																																																					0.751	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		6	229	0	0	0	1	0	6	229				
FOXA2	3170	broad.mit.edu	37	20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr20:22562677G>C	ENST00000377115.4	-	3	1366	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000419308.2_Missense_Mutation_p.H401Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1183-1185)caC>caG		forkhead box A2							160.0	156.0	158.0					20																	22562677		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22562677G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1185C>G	20.37:g.22562677G>C	ENSP00000366319:p.His395Gln					FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	p.H395Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1387	-	Lung NSC(19;0.188)		395			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.1185C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336270	0.11013	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.89485	-2.51;-2.51;-2.52	4.15	-0.0701	0.13748	Forkhead box protein, C-terminal (1);	.	.	.	.	T	0.81451	0.4825	L	0.36672	1.1	0.32494	N	0.539792	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.74278	-0.3717	9	0.40728	T	0.16	.	8.4046	0.32608	0.4526:0.0:0.5474:0.0	.	395;401	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	Q	395;395;401;281	ENSP00000366319:H395Q;ENSP00000400341:H395Q;ENSP00000315955:H401Q	ENSP00000315955:H401Q	H	-	3	2	FOXA2	22510677	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	1.203000	0.32284	0.134000	0.18681	-0.348000	0.07805	CAC		0.612	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			3	41	0	0	0	1	0	3	41				
LHX9	56956	broad.mit.edu	37	1	197887072	197887072	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:197887072G>T	ENST00000367387.4	+	1	544	c.119G>T	c.(118-120)aGa>aTa	p.R40I	LHX9_ENST00000367390.3_Missense_Mutation_p.R31I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000606127.1_3'UTR	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	40					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATGGAGCGCAGATCCAAGACT	0.667																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(91-93)aGa>aTa		LIM homeobox 9							88.0	89.0	89.0					1																	197887072		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197887072G>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.119G>T	1.37:g.197887072G>T	ENSP00000356357:p.Arg40Ile					LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000367387.4_Missense_Mutation_p.R40I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I	p.R31I	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			2	119	+			40					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.92G>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137614	0.94517	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000367388;ENST00000337020;ENST00000367387	T;D;T;D	0.89681	0.38;-2.55;0.33;-2.55	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	D	0.93765	0.7070	10	0.66056	D	0.02	.	17.7666	0.88480	0.0:0.0:1.0:0.0	.	40;31;31	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	I	31;31;83;40;40	ENSP00000356361:R31I;ENSP00000356360:R31I;ENSP00000337969:R40I;ENSP00000356357:R40I	ENSP00000337969:R40I	R	+	2	0	LHX9	196153695	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.128000	0.94424	2.506000	0.84524	0.655000	0.94253	AGA		0.667	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		8	94	1	0	5.4927e-09	1	6.07088e-09	8	94				
TRAF2	7186	broad.mit.edu	37	9	139802603	139802603	+	Missense_Mutation	SNP	C	C	T	rs373018887		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:139802603C>T	ENST00000247668.2	+	5	500	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	TRAF2_ENST00000359662.3_Missense_Mutation_p.R202C|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R150C	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	150					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGAAAAGGAGCGCCACCTGGA	0.652																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(604-606)Cgc>Tgc		TNF receptor-associated factor 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	43.0	43.0		448	4.2	0.6	9		43	0,8600		0,0,4300	no	missense	TRAF2	NM_021138.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	150/502	139802603	1,13005	2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802603C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.448C>T	9.37:g.139802603C>T	ENSP00000247668:p.Arg150Cys					TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R150C|TRAF2_ENST00000247668.2_Missense_Mutation_p.R150C	p.R202C			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	5	649	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	150					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.604C>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910618	0.72983	2.27E-4	0.0	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.37411	1.75;1.48;1.75;1.48;1.2	4.16	4.16	0.48862	Zinc finger, TRAF-type (1);	0.538250	0.20185	N	0.097434	T	0.59115	0.2170	M	0.76838	2.35	0.49130	D	0.999751	D;D;D;D	0.89917	0.997;0.997;1.0;0.986	P;P;D;P	0.67900	0.884;0.884;0.954;0.453	T	0.63791	-0.6557	10	0.56958	D	0.05	-21.6945	14.408	0.67096	0.0:1.0:0.0:0.0	.	139;150;202;150	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	C	150;150;150;174;150;202;202	ENSP00000405860:R150C;ENSP00000446414:R150C;ENSP00000406524:R150C;ENSP00000247668:R150C;ENSP00000352685:R202C	ENSP00000247668:R150C	R	+	1	0	TRAF2	138922424	0.949000	0.32298	0.554000	0.28268	0.728000	0.41692	3.035000	0.49759	2.162000	0.67917	0.561000	0.74099	CGC		0.652	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		3	30	0	0	0	1	0	3	30				
PKD1	5310	broad.mit.edu	37	16	2158549	2158549	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:2158549G>A	ENST00000262304.4	-	15	6827	c.6619C>T	c.(6619-6621)Ccc>Tcc	p.P2207S	PKD1_ENST00000423118.1_Missense_Mutation_p.P2207S|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCACGCCGGGCAGGGCCACA	0.697																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(6619-6621)Ccc>Tcc		polycystic kidney disease 1 (autosomal dominant)							11.0	12.0	11.0					16																	2158549		2149	4229	6378	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158549G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6619C>T	16.37:g.2158549G>A	ENSP00000262304:p.Pro2207Ser					PKD1_ENST00000423118.1_Missense_Mutation_p.P2207S	p.P2207S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	6827	-			2207			REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.6619C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	14.98	2.698572	0.48307	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.39592	1.07;1.07	5.49	5.49	0.81192	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.181165	0.48286	D	0.000200	T	0.65995	0.2745	M	0.74258	2.255	0.42677	D	0.993538	D;D	0.71674	0.998;0.998	D;D	0.72625	0.94;0.978	T	0.65088	-0.6253	10	0.41790	T	0.15	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	2207;2207	P98161-3;P98161	.;PKD1_HUMAN	S	2207;2207;1558;486	ENSP00000262304:P2207S;ENSP00000399501:P2207S	ENSP00000262304:P2207S	P	-	1	0	PKD1	2098550	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	4.702000	0.61817	2.597000	0.87782	0.544000	0.68410	CCC		0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	19	0	0	0	1	0	3	19				
KLK15	55554	broad.mit.edu	37	19	51330248	51330248	+	Missense_Mutation	SNP	G	G	A	rs571715638		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:51330248G>A	ENST00000598239.1	-	3	397	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	KLK15_ENST00000301421.2_Missense_Mutation_p.R123C|KLK15_ENST00000596931.1_Missense_Mutation_p.R122C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000326856.4_Missense_Mutation_p.R122C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R123S(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACCGCGGGGCGCACCTGGGGG	0.701													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15409	0.0		0.0	False		,,,				2504	0.0				Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			1	Substitution - Missense(1)	p.R123S(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(364-366)Cgc>Tgc		kallikrein-related peptidase 15							41.0	41.0	41.0					19																	51330248		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330248G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.367C>T	19.37:g.51330248G>A	ENSP00000469315:p.Arg123Cys					KLK15_ENST00000598239.1_Missense_Mutation_p.R123C|KLK15_ENST00000301421.2_Missense_Mutation_p.R123C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.R122C	p.R122C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	493	-		all_neural(266;0.057)	123			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.364C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	19.11	3.763442	0.69763	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.89746	-2.56	4.5	2.32	0.28847	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.509034	0.17019	N	0.190199	D	0.93158	0.7821	M	0.86864	2.845	0.39279	D	0.964538	P;P;D	0.76494	0.816;0.834;0.999	B;B;D	0.67725	0.126;0.318;0.953	D	0.91382	0.5128	10	0.72032	D	0.01	.	5.4883	0.16761	0.096:0.0:0.5293:0.3747	.	123;122;123	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	C	123	ENSP00000301421:R123C	ENSP00000301421:R123C	R	-	1	0	KLK15	56022060	0.005000	0.15991	0.488000	0.27440	0.285000	0.27093	1.134000	0.31442	0.608000	0.30000	0.555000	0.69702	CGC		0.701	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		18	64	0	0	0	1	0	18	64				
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127705896	127705896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr10:127705896delT	ENST00000368679.4	-	23	2991	c.2682delA	c.(2680-2682)caafs	p.Q894fs		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	894					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGTGTGGATATTGTGGAGCAG	0.438																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2680-2682)cafs		ADAM metallopeptidase domain 12							102.0	99.0	100.0					10																	127705896		2202	4300	6502	SO:0001589	frameshift_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127705896delT	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2682delA	10.37:g.127705896delT	ENSP00000357668:p.Gln894fs						p.Q894fs	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	23	2991	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	894					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Frame_Shift_Del	DEL	ENST00000368679.4	37	c.2682delA	CCDS7653.1																																																																																				0.438	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			2	4						2	4	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403409	89403409	+	RNA	DEL	T	T	-			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr11:89403409delT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						tttgtacgccttttcccctgt	0.398																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403409delT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403409delT										Q9HBA9	FOH1B_HUMAN			0	908	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.398	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		2	4						2	4	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		8	649						8	649	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000217800.5_5'Flank	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggc>gg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del					POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR	p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			14					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		3	3						3	3	---	---	---	---
