#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
SH3TC1	54436	broad.mit.edu	37	4	8218826	8218826	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:8218826G>A	ENST00000245105.3	+	7	838	c.771G>A	c.(769-771)ccG>ccA	p.P257P	SH3TC1_ENST00000539824.1_Silent_p.P181P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	257										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTTCACCGCCGAGCCCCAGCG	0.672																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(541-543)ccG>ccA		SH3 domain and tetratricopeptide repeats 1							18.0	23.0	21.0					4																	8218826		2201	4298	6499	SO:0001819	synonymous_variant	54436						binding	g.chr4:8218826G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.771G>A	4.37:g.8218826G>A						SH3TC1_ENST00000245105.3_Silent_p.P257P	p.P181P			Q8TE82	S3TC1_HUMAN			7	917	+			257					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.543G>A	CCDS3399.1																																																																																				0.672	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		7	27	0	0	0	1	0	7	27				
TMUB1	83590	broad.mit.edu	37	7	150779522	150779522	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:150779522C>T	ENST00000392818.3	-	2	486	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMUB1_ENST00000476627.1_Silent_p.P43P|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000540185.1_5'Flank|TMUB1_ENST00000482202.1_Silent_p.P43P|FASTK_ENST00000353841.2_5'Flank|TMUB1_ENST00000297533.4_Silent_p.P43P|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000462940.1_Silent_p.P43P	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	43						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCCCTGACGGCTGGGGCA	0.677																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(127-129)ccG>ccA		transmembrane and ubiquitin-like domain containing 1							62.0	70.0	67.0					7																	150779522		2203	4299	6502	SO:0001819	synonymous_variant	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779522C>T	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.129G>A	7.37:g.150779522C>T						TMUB1_ENST00000476627.1_Silent_p.P43P|TMUB1_ENST00000482202.1_Silent_p.P43P|TMUB1_ENST00000462940.1_Silent_p.P43P|TMUB1_ENST00000297533.4_Silent_p.P43P	p.P43P	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	486	-			43					D3DX06|Q53AQ2	Silent	SNP	ENST00000392818.3	37	c.129G>A	CCDS5920.1																																																																																				0.677	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		20	82	0	0	0	1	0	20	82				
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			0							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	10	1	0	0.014758	1	0.0149719	4	10				
TOP2B	7155	broad.mit.edu	37	3	25670393	25670393	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:25670393G>A	ENST00000264331.4	-	15	1850	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	TOP2B_ENST00000435706.2_Silent_p.D612D	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	617					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TTTTCCATTCGTCAAATTCAG	0.264																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1834-1836)gaC>gaT		topoisomerase (DNA) II beta 180kDa							52.0	50.0	51.0					3																	25670393		1789	4052	5841	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25670393G>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1851C>T	3.37:g.25670393G>A						TOP2B_ENST00000264331.4_Silent_p.D617D	p.D612D			Q02880	TOP2B_HUMAN			15	2037	-			617					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.1836C>T																																																																																					0.264	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				4	60	0	0	0	1	0	4	60				
PTPDC1	138639	broad.mit.edu	37	9	96859862	96859862	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:96859862C>T	ENST00000375360.3	+	7	1192	c.852C>T	c.(850-852)caC>caT	p.H284H	PTPDC1_ENST00000288976.3_Silent_p.H336H	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	284					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCTGAAACACGTGCCAAAAA	0.478																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(850-852)caC>caT		protein tyrosine phosphatase domain containing 1							104.0	100.0	101.0					9																	96859862		2203	4300	6503	SO:0001819	synonymous_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859862C>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.852C>T	9.37:g.96859862C>T						PTPDC1_ENST00000288976.3_Silent_p.H336H	p.H284H	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1192	+			284					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.852C>T	CCDS6707.1																																																																																				0.478	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		9	83	0	0	0	1	0	9	83				
FLT1	2321	broad.mit.edu	37	13	29004260	29004260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr13:29004260C>A	ENST00000282397.4	-	8	1284	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	FLT1_ENST00000541932.1_Nonsense_Mutation_p.E345*|FLT1_ENST00000539099.1_Nonsense_Mutation_p.E345*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	345	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTACGGTTTCAAGCACCTGC	0.408																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1033-1035)Gaa>Taa		fms-related tyrosine kinase 1	Sunitinib(DB01268)						106.0	96.0	99.0					13																	29004260		2203	4299	6502	SO:0001587	stop_gained	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29004260C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1033G>T	13.37:g.29004260C>A	ENSP00000282397:p.Glu345*					FLT1_ENST00000541932.1_Nonsense_Mutation_p.E345*|FLT1_ENST00000539099.1_Nonsense_Mutation_p.E345*	p.E345*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	8	1284	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	345			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP	ENST00000282397.4	37	c.1033G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	37	6.084895	0.97267	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	.	.	.	5.72	5.72	0.89469	.	0.190416	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.8879	0.96917	0.0:1.0:0.0:0.0	.	.	.	.	X	345	.	ENSP00000282397:E345X	E	-	1	0	FLT1	27902260	0.999000	0.42202	0.746000	0.31095	0.203000	0.24098	4.398000	0.59697	2.693000	0.91896	0.655000	0.94253	GAA		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			7	55	1	0	5.4927e-09	1	6.20144e-09	7	55				
SOS1	6654	broad.mit.edu	37	2	39234309	39234309	+	Missense_Mutation	SNP	C	C	T	rs397517159		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:39234309C>T	ENST00000426016.1	-	17	2622	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	SOS1_ENST00000402219.2_Missense_Mutation_p.E846K|SOS1_ENST00000395038.2_Missense_Mutation_p.E846K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	846	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.		E -> K (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E846K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ACTCTTTCTTCTAAATTTTCA	0.308									Noonan syndrome																													ENST00000426016.1																			1	Substitution - Missense(1)	p.E846K(1)	urinary_tract(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75	GRCh37	CM070272	SOS1	M		c.(2536-2538)Gaa>Aaa		son of sevenless homolog 1 (Drosophila)							107.0	114.0	111.0					2																	39234309		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234309C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2536G>A	2.37:g.39234309C>T	ENSP00000387784:p.Glu846Lys					SOS1_ENST00000395038.2_Missense_Mutation_p.E846K|SOS1_ENST00000402219.2_Missense_Mutation_p.E846K	p.E846K			Q07889	SOS1_HUMAN			17	2622	-		all_hematologic(82;0.21)	846		E -> K (in NS4).	Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2536G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068798	0.76301	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.27720	1.65;1.65;1.65	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	N	0.04260	-0.245	0.80722	D	1	B	0.29253	0.239	B	0.39706	0.307	T	0.21211	-1.0252	10	0.33141	T	0.24	.	19.7147	0.96110	0.0:1.0:0.0:0.0	.	846	Q07889	SOS1_HUMAN	K	846;846;578;846;846	ENSP00000387784:E846K;ENSP00000384675:E846K;ENSP00000378479:E846K	ENSP00000263879:E846K	E	-	1	0	SOS1	39087813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.694000	0.84235	2.660000	0.90430	0.603000	0.83216	GAA		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		13	124	0	0	0	1	0	13	124				
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.R252C(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)Cgc>Tgc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181.0	144.0	157.0					7																	55221710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221710C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C	p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	931	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	60	0	0	0	1	0	5	60				
CEL	1056	broad.mit.edu	37	9	135939834	135939834	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:135939834A>G	ENST00000372080.4	+	2	135	c.119A>G	c.(118-120)aAt>aGt	p.N40S	CEL_ENST00000351304.7_Missense_Mutation_p.N37S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	37	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGGCGTCAATAAGAAGCTC	0.627																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(118-120)aAt>aGt		carboxyl ester lipase							89.0	101.0	97.0					9																	135939834		2052	4198	6250	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135939834A>G	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.119A>G	9.37:g.135939834A>G	ENSP00000361151:p.Asn40Ser					CEL_ENST00000351304.7_Missense_Mutation_p.N37S	p.N40S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	2	135	+			37			Heparin-binding.		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.119A>G	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321932	0.41096	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.66099	-0.19;-0.19	4.97	4.97	0.65823	Carboxylesterase, type B (1);	0.221461	0.53938	D	0.000059	T	0.30448	0.0765	N	0.02357	-0.585	0.34115	D	0.663462	P	0.47677	0.899	B	0.37015	0.239	T	0.45469	-0.9259	10	0.32370	T	0.25	.	8.5009	0.33156	0.9117:0.0:0.0883:0.0	.	37	P19835	CEL_HUMAN	S	40;37;40	ENSP00000361151:N40S;ENSP00000342217:N37S	ENSP00000304021:N40S	N	+	2	0	CEL	134929655	0.994000	0.37717	0.975000	0.42487	0.344000	0.29017	0.892000	0.28322	1.991000	0.58162	0.459000	0.35465	AAT		0.627	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			6	57	0	0	0	1	0	6	57				
CXCL8	3576	broad.mit.edu	37	4	74607730	74607730	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:74607730G>T	ENST00000307407.3	+	3	418	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	IL8_ENST00000401931.1_Missense_Mutation_p.V89L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		89					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		GCAGAGGGTTGTGGAGAAGTT	0.328																																						ENST00000307407.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6						c.(265-267)Gtg>Ttg		interleukin 8	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)						56.0	63.0	61.0					4																	74607730		2187	4296	6483	SO:0001583	missense	0				angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding	g.chr4:74607730G>T																												ENST00000307407.3:c.265G>T	4.37:g.74607730G>T	ENSP00000306512:p.Val89Leu					IL8_ENST00000401931.1_Missense_Mutation_p.V89L	p.V89L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN	all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	3	418	+	Breast(15;0.00102)		89					B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	c.265G>T	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186732	0.21870	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.04275	3.66;3.66	5.27	2.46	0.29980	Chemokine interleukin-8-like domain (3);	0.156412	0.56097	D	0.000034	T	0.03608	0.0103	.	.	.	0.09310	N	0.999996	B;B	0.20550	0.046;0.008	B;B	0.22601	0.04;0.028	T	0.34800	-0.9814	9	0.59425	D	0.04	-10.939	3.8636	0.09007	0.273:0.1839:0.5431:0.0	.	89;89	C9J4T6;P10145	.;IL8_HUMAN	L	89	ENSP00000306512:V89L;ENSP00000385908:V89L	ENSP00000306512:V89L	V	+	1	0	IL8	74826594	0.713000	0.27926	0.826000	0.32828	0.511000	0.34104	0.999000	0.29757	1.364000	0.46038	-0.142000	0.14014	GTG		0.328	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1			4	55	1	0	1.23904e-05	1	1.33435e-05	4	55				
SCAF11	9169	broad.mit.edu	37	12	46320546	46320546	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:46320546C>T	ENST00000369367.3	-	11	3171	c.2938G>A	c.(2938-2940)Gga>Aga	p.G980R	SCAF11_ENST00000419565.2_Missense_Mutation_p.G980R|SCAF11_ENST00000549162.1_Missense_Mutation_p.G788R|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.G665R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	980	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CGATCATTTCCTCGTGGACAT	0.393																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1993-1995)Gga>Aga		SR-related CTD-associated factor 11							214.0	203.0	206.0					12																	46320546		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320546C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2938G>A	12.37:g.46320546C>T	ENSP00000358374:p.Gly980Arg					SCAF11_ENST00000549162.1_Missense_Mutation_p.G788R|SCAF11_ENST00000369367.3_Missense_Mutation_p.G980R|SCAF11_ENST00000419565.2_Missense_Mutation_p.G980R	p.G665R			Q99590	SCAFB_HUMAN			1	3202	-			980					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1993G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984680	0.74474	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.76578	-0.53;0.15;-0.54;0.15;-1.03	6.17	6.17	0.99709	.	0.085615	0.51477	D	0.000084	D	0.86239	0.5885	M	0.64997	1.995	0.46927	D	0.999258	D;D	0.89917	0.99;1.0	P;D	0.79108	0.783;0.992	T	0.79359	-0.1836	10	0.12766	T	0.61	-23.2749	20.8794	0.99867	0.0:1.0:0.0:0.0	.	788;980	F8VXG7;Q99590	.;SCAFB_HUMAN	R	665;980;788;980;920	ENSP00000449812:G665R;ENSP00000358374:G980R;ENSP00000448864:G788R;ENSP00000413036:G980R;ENSP00000446746:G920R	ENSP00000358374:G980R	G	-	1	0	SCAF11	44606813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.666000	0.54540	2.941000	0.99782	0.655000	0.94253	GGA		0.393	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		18	155	0	0	0	1	0	18	155				
TSPEAR	54084	broad.mit.edu	37	21	45949682	45949682	+	Splice_Site	SNP	A	A	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr21:45949682A>T	ENST00000323084.4	-	5	854	c.789T>A	c.(787-789)taT>taA	p.Y263*	TSPEAR_ENST00000397916.1_Splice_Site_p.Y195*	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	263	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTACTAACCATAGGGATATT	0.642																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.e5+1		thrombospondin-type laminin G domain and EAR repeats							51.0	58.0	56.0					21																	45949682		2203	4300	6503	SO:0001630	splice_region_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949682A>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.790+1T>A	21.37:g.45949682A>T						TSPEAR_ENST00000397916.1_Splice_Site_p.Y195_splice	p.Y263_splice	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	854	-			263						Splice_Site	SNP	ENST00000323084.4	37	c.790_splice	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534015	0.85812	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	.	.	.	5.27	-1.32	0.09201	.	2.170780	0.02547	N	0.095254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7644	13.7873	0.63117	0.5651:0.0:0.4349:0.0	.	.	.	.	X	263;195;263	.	ENSP00000321987:Y263X	Y	-	3	2	TSPEAR	44774110	0.986000	0.35501	0.955000	0.39395	0.352000	0.29268	0.198000	0.17217	-0.895000	0.03920	-1.751000	0.00678	TAT		0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	Nonsense_Mutation	11	45	0	0	0	1	0	11	45				
LRRC14	9684	broad.mit.edu	37	8	145742489	145742489	+	5'Flank	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:145742489C>A	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.G100V|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGGCACCGAGCCCTGGCGGCT	0.672																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(298-300)gGc>gTc	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							26.0	29.0	28.0					8																	145742489		2021	4185	6206	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742489C>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742489C>A	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.G100V	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	340	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		100					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.299G>T	CCDS6432.1																																																																																				0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		3	19	1	0	6.4e-05	1	6.68657e-05	3	19				
MYO1G	64005	broad.mit.edu	37	7	45007262	45007262	+	Missense_Mutation	SNP	G	G	A	rs370788368		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:45007262G>A	ENST00000258787.7	-	14	1860	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	575	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTGCCAGCCGTCAGGGGGCG	0.622																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1723-1725)aCg>aTg		myosin IG		G	MET/THR	0,4406		0,0,2203	84.0	82.0	83.0		1724	4.5	0.7	7		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO1G	NM_033054.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	575/1019	45007262	1,13005	2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45007262G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1724C>T	7.37:g.45007262G>A	ENSP00000258787:p.Thr575Met						p.T575M	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			14	1860	-			575			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.1724C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109702	0.77096	0.0	1.16E-4	ENSG00000136286	ENST00000258787	D	0.90444	-2.67	5.36	4.48	0.54585	Myosin head, motor domain (2);	0.000000	0.41938	D	0.000787	D	0.95648	0.8585	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96153	0.9109	10	0.87932	D	0	.	13.2238	0.59903	0.0781:0.0:0.9219:0.0	.	575;575	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	575	ENSP00000258787:T575M	ENSP00000258787:T575M	T	-	2	0	MYO1G	44973787	1.000000	0.71417	0.729000	0.30791	0.732000	0.41865	9.560000	0.98139	1.397000	0.46682	0.561000	0.74099	ACG		0.622	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			11	61	0	0	0	1	0	11	61				
RASSF9	9182	broad.mit.edu	37	12	86198645	86198645	+	Silent	SNP	T	T	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:86198645T>C	ENST00000361228.3	-	2	1511	c.1143A>G	c.(1141-1143)agA>agG	p.R381R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	381					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCCTTCGCTCTGTTTTCCT	0.418																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1141-1143)agA>agG		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							179.0	175.0	176.0					12																	86198645		1905	4132	6037	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198645T>C		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1143A>G	12.37:g.86198645T>C							p.R381R	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1511	-			381					B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.1143A>G	CCDS44950.1																																																																																				0.418	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			4	120	0	0	0	1	0	4	120				
CCSER1	401145	broad.mit.edu	37	4	91549203	91549203	+	Silent	SNP	C	C	T	rs559086817		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:91549203C>T	ENST00000509176.1	+	6	2040	c.1752C>T	c.(1750-1752)gaC>gaT	p.D584D	CCSER1_ENST00000333691.8_Silent_p.D584D|CCSER1_ENST00000432775.2_Silent_p.D584D	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	584								p.D586D(1)|p.D584D(1)									TAACAAAGGACGTTGATCAAG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17511	0.0		0.0	False		,,,				2504	0.001					ENST00000509176.1																			2	Substitution - coding silent(2)	p.D586D(1)|p.D584D(1)	large_intestine(2)								c.(1750-1752)gaC>gaT		coiled-coil serine-rich protein 1							83.0	80.0	81.0					4																	91549203		1872	4117	5989	SO:0001819	synonymous_variant	401145							g.chr4:91549203C>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1752C>T	4.37:g.91549203C>T						CCSER1_ENST00000333691.8_Silent_p.D584D|CCSER1_ENST00000432775.2_Silent_p.D584D	p.D584D	NM_001145065.1	NP_001138537.1					6	2040	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1752C>T	CCDS47099.1																																																																																				0.418	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		7	54	0	0	0	1	0	7	54				
GNA14	9630	broad.mit.edu	37	9	80046294	80046294	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:80046294C>G	ENST00000341700.6	-	4	1049	c.536G>C	c.(535-537)cGa>cCa	p.R179P	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	179					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R179Q(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GGTGGGCACTCGGACGCGAAG	0.493																																						ENST00000341700.6																			1	Substitution - Missense(1)	p.R179Q(1)	skin(1)	endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(535-537)cGa>cCa		guanine nucleotide binding protein (G protein), alpha 14							198.0	163.0	175.0					9																	80046294		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80046294C>G	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.536G>C	9.37:g.80046294C>G	ENSP00000365807:p.Arg179Pro					GNA14_ENST00000464095.1_5'UTR	p.R179P	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			4	1049	-			179					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.536G>C	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989792	0.93106	.	.	ENSG00000156049	ENST00000341700	D	0.91945	-2.94	5.42	5.42	0.78866	G protein alpha subunit, helical insertion (1);	0.123533	0.53938	D	0.000043	D	0.98175	0.9397	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	19.1675	0.93562	0.0:1.0:0.0:0.0	.	179	O95837	GNA14_HUMAN	P	179	ENSP00000365807:R179P	ENSP00000365807:R179P	R	-	2	0	GNA14	79236114	1.000000	0.71417	0.986000	0.45419	0.776000	0.43924	4.891000	0.63185	2.705000	0.92388	0.655000	0.94253	CGA		0.493	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			12	38	0	0	0	1	0	12	38				
PCMTD1	115294	broad.mit.edu	37	8	52746176	52746176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:52746176G>A	ENST00000360540.5	-	5	890	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R86*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R162*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAATAAATTCGATCATACTGA	0.363																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(484-486)Cga>Tga		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							143.0	129.0	134.0					8																	52746176		2203	4300	6503	SO:0001587	stop_gained	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52746176G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.484C>T	8.37:g.52746176G>A	ENSP00000353739:p.Arg162*					PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R86*|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R162*|PCMTD1_ENST00000519559.1_5'UTR	p.R162*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			5	890	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	162					Q96FK9	Nonsense_Mutation	SNP	ENST00000360540.5	37	c.484C>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252529	0.95336	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	.	.	.	5.2	3.37	0.38596	.	0.124846	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-42.8563	13.0609	0.59005	0.0:0.0:0.5761:0.4239	.	.	.	.	X	162;86;162	.	ENSP00000353739:R162X	R	-	1	2	PCMTD1	52908729	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.651000	0.61447	0.561000	0.29186	-0.293000	0.09583	CGA		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		7	75	0	0	0	1	0	7	75				
EIF4A2	1974	broad.mit.edu	37	3	186501416	186501416	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:186501416C>T	ENST00000323963.5	+	1	81	c.17C>T	c.(16-18)gCg>gTg	p.A6V	SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.A6V|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	6					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GGTGGCTCCGCGGATTATAAC	0.567			T	BCL6	NHL																																	ENST00000323963.5				Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(16-18)gCg>gTg		eukaryotic translation initiation factor 4A2							135.0	139.0	138.0					3																	186501416		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186501416C>T	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.17C>T	3.37:g.186501416C>T	ENSP00000326381:p.Ala6Val					RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.A6V	p.A6V			Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	1	81	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		6					D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.17C>T	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263484	0.59431	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.32272	1.46;1.67;1.63	4.48	4.48	0.54585	.	0.925624	0.09173	N	0.838525	T	0.16811	0.0404	N	0.08118	0	0.80722	D	1	B;P	0.34724	0.153;0.465	B;B	0.24006	0.05;0.014	T	0.13737	-1.0498	10	0.29301	T	0.29	-25.8385	15.0416	0.71796	0.0:1.0:0.0:0.0	.	6;6	Q14240-2;Q14240	.;IF4A2_HUMAN	V	6	ENSP00000415878:A6V;ENSP00000326381:A6V;ENSP00000398370:A6V	ENSP00000326381:A6V	A	+	2	0	EIF4A2	187984110	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.933000	0.75874	2.475000	0.83589	0.563000	0.77884	GCG		0.567	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		4	113	0	0	0	1	0	4	113				
SERPINB10	5273	broad.mit.edu	37	18	61602098	61602098	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr18:61602098G>C	ENST00000238508.3	+	8	875	c.816G>C	c.(814-816)aaG>aaC	p.K272N	AC009802.1_ENST00000599868.1_Splice_Site_p.L13V	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	272					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTATGAGAAGCTGAATGAGT	0.443																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(814-816)aaG>aaC		serpin peptidase inhibitor, clade B (ovalbumin), member 10							113.0	110.0	111.0					18																	61602098		2203	4300	6503	SO:0001583	missense	5273							g.chr18:61602098G>C	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.816G>C	18.37:g.61602098G>C	ENSP00000238508:p.Lys272Asn					AC009802.1_ENST00000599868.1_Splice_Site_p.L13_splice	p.K272N	NM_005024.1	NP_005015.1					8	875	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.816G>C	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	8.838	0.941538	0.18281	.	.	ENSG00000242550	ENST00000238508	D	0.84730	-1.89	5.4	1.47	0.22746	Serpin domain (3);	0.325596	0.35970	N	0.002880	T	0.74199	0.3685	L	0.43701	1.375	0.22787	N	0.998736	B	0.34103	0.437	B	0.29862	0.108	T	0.64019	-0.6505	10	0.51188	T	0.08	.	4.8164	0.13369	0.4279:0.152:0.4201:0.0	.	272	P48595	SPB10_HUMAN	N	272	ENSP00000238508:K272N	ENSP00000238508:K272N	K	+	3	2	SERPINB10	59753078	0.000000	0.05858	0.016000	0.15963	0.692000	0.40212	-1.606000	0.02072	0.051000	0.15978	0.561000	0.74099	AAG		0.443	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		5	56	0	0	0	1	0	5	56				
NLRP5	126206	broad.mit.edu	37	19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGCAACCGGAGCTTGACA	0.567																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2851-2853)cGg>cAg		NLR family, pyrin domain containing 5							118.0	117.0	117.0					19																	56552353		2035	4216	6251	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552353G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2852G>A	19.37:g.56552353G>A	ENSP00000375063:p.Arg951Gln						p.R951Q	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2852	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2852G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003594	0.07866	.	.	ENSG00000171487	ENST00000390649	T	0.61980	0.06	4.37	-8.74	0.00838	.	1.165660	0.06891	N	0.804302	T	0.24198	0.0586	N	0.01668	-0.77	0.09310	N	1	B	0.18863	0.031	B	0.08055	0.003	T	0.18999	-1.0319	10	0.19590	T	0.45	.	5.4908	0.16774	0.5173:0.0:0.2723:0.2104	.	951	P59047	NALP5_HUMAN	Q	951	ENSP00000375063:R951Q	ENSP00000375063:R951Q	R	+	2	0	NLRP5	61244165	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.220000	0.02971	-2.114000	0.00832	-0.782000	0.03352	CGG		0.567	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		7	74	0	0	0	1	0	7	74				
DSP	1832	broad.mit.edu	37	6	7579661	7579661	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:7579661G>A	ENST00000379802.3	+	23	3579	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	DSP_ENST00000418664.2_Missense_Mutation_p.E1080K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1080	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCGAGCCTGGAGGAGCTGAA	0.478																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3238-3240)Gag>Aag		desmoplakin							81.0	84.0	83.0					6																	7579661		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579661G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3238G>A	6.37:g.7579661G>A	ENSP00000369129:p.Glu1080Lys					DSP_ENST00000418664.2_Missense_Mutation_p.E1080K	p.E1080K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3579	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1080			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3238G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062139	0.93846	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92858	-3.12;-3.12	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000005	D	0.87529	0.6200	L	0.32530	0.975	0.51233	D	0.999916	B;D	0.56968	0.252;0.978	B;P	0.47981	0.051;0.563	D	0.85629	0.1269	10	0.24483	T	0.36	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	1127;1080	Q4LE79;P15924	.;DESP_HUMAN	K	1080;1080;885	ENSP00000369129:E1080K;ENSP00000396591:E1080K	ENSP00000369129:E1080K	E	+	1	0	DSP	7524660	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.295000	0.72744	2.674000	0.91012	0.555000	0.69702	GAG		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	63	0	0	0	1	0	4	63				
HNRNPCL1	343069	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473																																						ENST00000317869.6																			1	Substitution - coding silent(1)	p.A35A(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(103-105)gcG>gcA		heterogeneous nuclear ribonucleoprotein C-like 1							166.0	154.0	158.0					1																	12908038		2203	4300	6503	SO:0001819	synonymous_variant	343069							g.chr1:12908038C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.105G>A	1.37:g.12908038C>T							p.A35A	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	330	-								B2RP44	Silent	SNP	ENST00000317869.6	37	c.105G>A	CCDS30591.1																																																																																				0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		7	173	0	0	0	1	0	7	173				
MUC16	94025	broad.mit.edu	37	19	9006762	9006762	+	Silent	SNP	G	G	A	rs537132833		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:9006762G>A	ENST00000397910.4	-	44	39689	c.39486C>T	c.(39484-39486)acC>acT	p.T13162T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13164					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGGCCGGTGGCTATAG	0.423																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39484-39486)acC>acT		mucin 16, cell surface associated							161.0	130.0	140.0					19																	9006762		1920	4118	6038	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006762G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39486C>T	19.37:g.9006762G>A							p.T13162T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			44	39689	-			13164					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39486C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.685	-0.505426	0.04261	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.99	-5.98	0.02220	.	.	.	.	.	T	0.18257	0.0438	.	.	.	.	.	.	.	.	.	.	.	.	T	0.03566	-1.1024	3	.	.	.	-0.0872	2.1822	0.03878	0.18:0.2619:0.4298:0.1284	.	.	.	.	L	2	.	.	P	-	2	0	MUC16	8867762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.644000	0.00107	-4.971000	0.00025	-3.095000	0.00064	CCG		0.423	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	102	0	0	0	1	0	7	102				
MS4A4A	51338	broad.mit.edu	37	11	60064771	60064771	+	Silent	SNP	C	C	T	rs370827359		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:60064771C>T	ENST00000337908.4	+	3	393	c.303C>T	c.(301-303)atC>atT	p.I101I	MS4A4A_ENST00000355131.3_Silent_p.I82I|MS4A4A_ENST00000532114.1_Silent_p.I101I|MS4A4A_ENST00000395016.3_Silent_p.I82I	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	101						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCGTGTATATCGGGTACACAA	0.388																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(244-246)atC>atT		membrane-spanning 4-domains, subfamily A, member 4A		C	,	0,4406		0,0,2203	152.0	128.0	136.0		246,303	-7.8	0.0	11		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MS4A4A	NM_024021.3,NM_148975.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	82/221,101/240	60064771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60064771C>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.303C>T	11.37:g.60064771C>T						MS4A4A_ENST00000395016.3_Silent_p.I82I|MS4A4A_ENST00000532114.1_Silent_p.I101I|MS4A4A_ENST00000337908.4_Silent_p.I101I	p.I82I	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			4	469	+			101					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.246C>T	CCDS7982.1																																																																																				0.388	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			5	91	0	0	0	1	0	5	91				
ATP13A3	79572	broad.mit.edu	37	3	194154513	194154513	+	Missense_Mutation	SNP	C	C	T	rs138465420	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:194154513C>T	ENST00000439040.1	-	21	3024	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	ATP13A3_ENST00000256031.4_Missense_Mutation_p.V745I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	745						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGACCATGACGGTGCGAATG	0.348													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15941	0.0		0.0	False		,,,				2504	0.0					ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2233-2235)Gtc>Atc		ATPase type 13A3		C	ILE/VAL	3,3709		0,3,1853	165.0	151.0	155.0		2233	5.9	1.0	3	dbSNP_134	155	1,8193		0,1,4096	yes	missense	ATP13A3	NM_024524.3	29	0,4,5949	TT,TC,CC		0.0122,0.0808,0.0336	benign	745/1227	194154513	4,11902	1856	4097	5953	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194154513C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2233G>A	3.37:g.194154513C>T	ENSP00000416508:p.Val745Ile					ATP13A3_ENST00000256031.4_Missense_Mutation_p.V745I	p.V745I			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	21	3024	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	745					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2233G>A	CCDS43187.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	33	5.201095	0.94997	8.08E-4	1.22E-4	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.69306	-0.39;-0.39	5.86	5.86	0.93980	HAD-like domain (2);	0.115927	0.56097	D	0.000021	T	0.65698	0.2716	L	0.38953	1.18	0.80722	D	1	P	0.46395	0.877	P	0.46758	0.526	T	0.60265	-0.7297	10	0.26408	T	0.33	-1.0442	20.1802	0.98196	0.0:1.0:0.0:0.0	.	745	Q9H7F0	AT133_HUMAN	I	745;745;483	ENSP00000416508:V745I;ENSP00000256031:V745I	ENSP00000256031:V745I	V	-	1	0	ATP13A3	195635802	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.853000	0.62911	2.777000	0.95525	0.655000	0.94253	GTC		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		15	103	0	0	0	1	0	15	103				
C9orf72	203228	broad.mit.edu	37	9	27565531	27565531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:27565531G>A	ENST00000380003.3	-	3	565	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	C9orf72_ENST00000379997.3_Nonsense_Mutation_p.Q168*|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	168					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCATATACCTGATCTTCCATT	0.353																																						ENST00000380003.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(502-504)Cag>Tag		chromosome 9 open reading frame 72							169.0	145.0	153.0					9																	27565531		2203	4299	6502	SO:0001587	stop_gained	203228							g.chr9:27565531G>A	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.502C>T	9.37:g.27565531G>A	ENSP00000369339:p.Gln168*					C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Nonsense_Mutation_p.Q168*	p.Q168*	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	3	565	-		all_neural(11;7.57e-10)	168					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Nonsense_Mutation	SNP	ENST00000380003.3	37	c.502C>T	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745360	0.96882	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	.	Q	-	1	0	C9orf72	27555531	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.404000	0.52623	2.840000	0.97914	0.655000	0.94253	CAG		0.353	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		7	59	0	0	0	1	0	7	59				
PHEX	5251	broad.mit.edu	37	X	22095783	22095783	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:22095783C>A	ENST00000379374.4	+	5	1191	c.626C>A	c.(625-627)tCc>tAc	p.S209Y	PHEX_ENST00000537599.1_Missense_Mutation_p.S209Y|PHEX_ENST00000535894.1_Missense_Mutation_p.S112Y	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	209					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTGTATGTGTCCCCTGATGAC	0.453																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(625-627)tCc>tAc		phosphate regulating endopeptidase homolog, X-linked							187.0	165.0	173.0					X																	22095783		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22095783C>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.626C>A	X.37:g.22095783C>A	ENSP00000368682:p.Ser209Tyr					PHEX_ENST00000535894.1_Missense_Mutation_p.S112Y|PHEX_ENST00000537599.1_Missense_Mutation_p.S209Y	p.S209Y	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			5	1191	+			209					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.626C>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612405	0.66672	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.74106	-0.81;-0.81;-0.81	5.52	5.52	0.82312	Peptidase M13 (1);	0.226724	0.47093	D	0.000259	T	0.78110	0.4232	L	0.59436	1.845	0.80722	D	1	P;P	0.49559	0.925;0.873	P;P	0.48141	0.568;0.478	T	0.79957	-0.1584	10	0.54805	T	0.06	.	18.4851	0.90825	0.0:1.0:0.0:0.0	.	209;209	F5GXU4;P78562	.;PHEX_HUMAN	Y	209;209;112	ENSP00000368682:S209Y;ENSP00000440362:S209Y;ENSP00000439418:S112Y	ENSP00000368682:S209Y	S	+	2	0	PHEX	22005704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.322000	0.59215	2.306000	0.77630	0.600000	0.82982	TCC		0.453	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		14	93	1	0	4.3838e-07	1	4.79478e-07	14	93				
KIAA1804	84451	broad.mit.edu	37	1	233518415	233518415	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:233518415C>T	ENST00000366624.3	+	10	3330	c.3069C>T	c.(3067-3069)agC>agT	p.S1023S	MLK4_ENST00000366622.1_Silent_p.S469S	NM_032435.2	NP_115811.2																					GCAAAACCAGCCGGCCATCTA	0.423																																						ENST00000366624.3																			0											c.(3067-3069)agC>agT									75.0	65.0	68.0					1																	233518415		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233518415C>T																												ENST00000366624.3:c.3069C>T	1.37:g.233518415C>T						MLK4_ENST00000366622.1_Silent_p.S469S	p.S1023S	NM_032435.2	NP_115811.2					10	3330	+									Silent	SNP	ENST00000366624.3	37	c.3069C>T	CCDS1598.1																																																																																				0.423	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			4	51	0	0	0	1	0	4	51				
TMC2	117532	broad.mit.edu	37	20	2621836	2621836	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr20:2621836C>T	ENST00000358864.1	+	20	2575	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	854					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCGCAGGGCCCTGGGACCTC	0.587																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2560-2562)Cct>Tct		transmembrane channel-like 2							85.0	89.0	88.0					20																	2621836		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2621836C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2560C>T	20.37:g.2621836C>T	ENSP00000351732:p.Pro854Ser						p.P854S	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			20	2575	+			854					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2560C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	5.566	0.289292	0.10513	.	.	ENSG00000149488	ENST00000358864	T	0.62639	0.01	4.23	-6.51	0.01878	.	1.254220	0.05411	N	0.542495	T	0.43077	0.1231	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.07482	T	0.82	0.0311	1.9047	0.03275	0.1183:0.2132:0.3495:0.319	.	854	Q8TDI7	TMC2_HUMAN	S	854	ENSP00000351732:P854S	ENSP00000351732:P854S	P	+	1	0	TMC2	2569836	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.693000	0.00829	-1.320000	0.02283	-0.229000	0.12294	CCT		0.587	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			8	92	0	0	0	1	0	8	92				
HS3ST1	9957	broad.mit.edu	37	4	11401216	11401216	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:11401216C>T	ENST00000002596.5	-	2	1588	c.414G>A	c.(412-414)ccG>ccA	p.P138P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	138					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCGGATGGACGGGTTCATGC	0.592																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(412-414)ccG>ccA		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							62.0	60.0	61.0					4																	11401216		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401216C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.414G>A	4.37:g.11401216C>T							p.P138P	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1588	-			138					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.414G>A	CCDS3408.1																																																																																				0.592	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		5	47	0	0	0	1	0	5	47				
PREX2	80243	broad.mit.edu	37	8	68956801	68956801	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:68956801G>A	ENST00000288368.4	+	8	1196	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	307	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGATGGAAGTGGAGAATGT	0.418																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(919-921)Gtg>Atg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							155.0	144.0	148.0					8																	68956801		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68956801G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.919G>A	8.37:g.68956801G>A	ENSP00000288368:p.Val307Met					PREX2_ENST00000529398.1_3'UTR	p.V307M	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			8	1196	+			307			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.919G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254937	0.95336	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.91068	-2.78	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;0.993;0.952	D	0.95876	0.8895	10	0.87932	D	0	.	19.9946	0.97381	0.0:0.0:1.0:0.0	.	307;307;307	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	M	307	ENSP00000288368:V307M	ENSP00000288368:V307M	V	+	1	0	PREX2	69119355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.797000	0.99108	2.728000	0.93425	0.591000	0.81541	GTG		0.418	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		8	78	0	0	0	1	0	8	78				
LGALS13	29124	broad.mit.edu	37	19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T	rs534285827		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:40095888C>T	ENST00000221797.4	+	3	208	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	55	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													.|||	1	0.000199681	0.0	0.0	5008	,	,		23270	0.0		0.0	False		,,,				2504	0.001					ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(163-165)Cga>Tga		lectin, galactoside-binding, soluble, 13							242.0	178.0	200.0					19																	40095888		2203	4300	6503	SO:0001587	stop_gained	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095888C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.163C>T	19.37:g.40095888C>T	ENSP00000221797:p.Arg55*						p.R55*	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		3	208	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		55			Galectin.		C5HZ15	Nonsense_Mutation	SNP	ENST00000221797.4	37	c.163C>T	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	7.669	0.686497	0.14973	.	.	ENSG00000105198	ENST00000221797	.	.	.	0.744	-1.49	0.08718	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	55	.	ENSP00000221797:R55X	R	+	1	2	LGALS13	44787728	0.023000	0.18921	0.001000	0.08648	0.015000	0.08874	-1.085000	0.03390	-2.080000	0.00870	-2.332000	0.00249	CGA		0.498	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		4	34	0	0	0	1	0	4	34				
NF1	4763	broad.mit.edu	37	17	29586111	29586111	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:29586111A>G	ENST00000358273.4	+	33	4777	c.4394A>G	c.(4393-4395)aAt>aGt	p.N1465S	NF1_ENST00000356175.3_Missense_Mutation_p.N1444S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1465					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGGCCTTTCAATGATTTTGTG	0.333			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4393-4395)aAt>aGt		neurofibromin 1							53.0	48.0	49.0					17																	29586111		2201	4299	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29586111A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4394A>G	17.37:g.29586111A>G	ENSP00000351015:p.Asn1465Ser	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.N1444S	p.N1465S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	33	4777	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1465					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4394A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	31	5.102249	0.94245	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.85484	-1.99;-1.99;-1.99	5.78	5.78	0.91487	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.76574	2.34	0.80722	D	1	D;D;B	0.76494	0.999;0.974;0.393	D;D;B	0.70487	0.958;0.969;0.194	D	0.92193	0.5761	10	0.56958	D	0.05	.	16.1145	0.81295	1.0:0.0:0.0:0.0	.	494;1444;1465	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	S	1465;1444;1110	ENSP00000351015:N1465S;ENSP00000348498:N1444S;ENSP00000389907:N1110S	ENSP00000348498:N1444S	N	+	2	0	NF1	26610237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.623000	0.90957	2.205000	0.71048	0.454000	0.30748	AAT		0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	63	0	0	0	1	0	10	63				
CD81	975	broad.mit.edu	37	11	2416679	2416679	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:2416679G>A	ENST00000263645.5	+	5	644	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	CD81_ENST00000481687.1_Missense_Mutation_p.A136T|CD81_ENST00000526072.1_Missense_Mutation_p.A59T|CD81_ENST00000492627.1_Missense_Mutation_p.A59T|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A168T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	130					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGACCAGGCCCTACAGCA	0.682																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(388-390)Gcc>Acc		CD81 molecule							85.0	82.0	83.0					11																	2416679		2202	4298	6500	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2416679G>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.388G>A	11.37:g.2416679G>A	ENSP00000263645:p.Ala130Thr					CD81_ENST00000492627.1_Missense_Mutation_p.A59T|CD81_ENST00000481687.1_Missense_Mutation_p.A136T|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A168T|CD81_ENST00000526072.1_Missense_Mutation_p.A59T	p.A130T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	644	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	130					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.388G>A	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618433	0.28801	.	.	ENSG00000110651	ENST00000475945;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687	T;T;T;T;T;T;T;T;T	0.78924	-1.2;-1.2;-1.22;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	3.63	3.63	0.41609	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.364316	0.25532	N	0.030028	T	0.71592	0.3358	N	0.25094	0.71	0.46078	D	0.998853	D;P	0.57571	0.98;0.896	P;P	0.59487	0.858;0.519	T	0.67956	-0.5536	10	0.02654	T	1	.	11.0093	0.47652	0.0:0.0:1.0:0.0	.	168;130	A6NMH8;P60033	.;CD81_HUMAN	T	59;130;125;59;119;168;123;59;136	ENSP00000433178:A59T;ENSP00000263645:A130T;ENSP00000435633:A125T;ENSP00000437242:A59T;ENSP00000433767:A119T;ENSP00000370424:A168T;ENSP00000432249:A123T;ENSP00000431780:A59T;ENSP00000432033:A136T	ENSP00000263645:A130T	A	+	1	0	CD81	2373255	0.995000	0.38212	1.000000	0.80357	0.948000	0.59901	2.766000	0.47629	2.050000	0.60909	0.549000	0.68633	GCC		0.682	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		7	36	0	0	0	1	0	7	36				
MXRA5	25878	broad.mit.edu	37	X	3240937	3240937	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:3240937A>T	ENST00000217939.6	-	5	2943	c.2789T>A	c.(2788-2790)gTc>gAc	p.V930D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	930						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTTCATAGACTGTGTCTAA	0.507																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2788-2790)gTc>gAc		matrix-remodelling associated 5							117.0	88.0	98.0					X																	3240937		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240937A>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2789T>A	X.37:g.3240937A>T	ENSP00000217939:p.Val930Asp						p.V930D	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2943	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	930					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2789T>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	7.285	0.609874	0.14066	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64260	-0.09	2.81	-2.17	0.07059	.	1.592620	0.04550	U	0.389744	T	0.38188	0.1031	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19877	-1.0292	10	0.59425	D	0.04	.	3.231	0.06749	0.3677:0.0:0.2338:0.3984	.	930	Q9NR99	MXRA5_HUMAN	D	930	ENSP00000217939:V930D	ENSP00000217939:V930D	V	-	2	0	MXRA5	3250937	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.049000	0.11924	-0.706000	0.05028	0.430000	0.28490	GTC		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		12	29	0	0	0	1	0	12	29				
DCAF12L2	340578	broad.mit.edu	37	X	125298843	125298843	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:125298843C>T	ENST00000360028.2	-	1	1091	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	DCAF12L2_ENST00000538699.1_Silent_p.S355S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	355										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGAAGCTCAGCGACCGCACGC	0.632																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1063-1065)tcG>tcA		DDB1 and CUL4 associated factor 12-like 2							48.0	52.0	50.0					X																	125298843		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125298843C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1065G>A	X.37:g.125298843C>T						DCAF12L2_ENST00000360028.2_Silent_p.S355S	p.S355S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1145	-			355					B2RN42	Silent	SNP	ENST00000360028.2	37	c.1065G>A	CCDS43991.1																																																																																				0.632	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		6	36	0	0	0	1	0	6	36				
MUC12	10071	broad.mit.edu	37	7	100610076	100610076	+	5'Flank	SNP	C	C	G	rs146817925	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:100610076C>G	ENST00000379442.3	+	0	0				MUC12_ENST00000536621.1_5'Flank|RP11-395B7.2_ENST00000434775.1_RNA|MUC3A_ENST00000319509.7_Missense_Mutation_p.A854G|RP11-395B7.2_ENST00000420080.1_RNA			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TTCCATGTGGCCTTGGAGAAC	0.567																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2560-2562)gCc>gGc		mucin 3A, cell surface associated							108.0	109.0	109.0					7																	100610076		876	1991	2867	SO:0001631	upstream_gene_variant	4584							g.chr7:100610076C>G	AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042		7.37:g.100610076C>G	Exception_encountered					RP11-395B7.2_ENST00000420080.1_RNA	p.A854G							10	2561	+								A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	ENST00000379442.3	37	c.2561C>G		.	.	.	.	.	.	.	.	.	.	c	12.61	1.988462	0.35036	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.14144	3.05;2.53	2.6	-0.765	0.11023	.	.	.	.	.	T	0.21186	0.0510	L	0.59436	1.845	0.21740	N	0.999565	D	0.58268	0.982	P	0.56788	0.806	T	0.30966	-0.9960	8	0.26408	T	0.33	.	7.9648	0.30091	0.64:0.36:0.0:0.0	.	2519	Q02505	MUC3A_HUMAN	G	854;286	ENSP00000324834:A854G;ENSP00000406404:A286G	ENSP00000324834:A854G	A	+	2	0	MUC3A	100396796	0.000000	0.05858	0.058000	0.19502	0.102000	0.19082	-0.642000	0.05427	-0.163000	0.10946	-0.490000	0.04691	GCC		0.567	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347234.1	XM_379904		6	151	0	0	0	1	0	6	151				
POLR2A	5430	broad.mit.edu	37	17	7405004	7405004	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:7405004A>G	ENST00000322644.6	+	14	2704	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	769					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.M769V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTCAAGTCTATGGTCGTGTC	0.483																																						ENST00000322644.6																			1	Substitution - Missense(1)	p.M769V(1)	lung(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2305-2307)Atg>Gtg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							70.0	65.0	67.0					17																	7405004		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405004A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2305A>G	17.37:g.7405004A>G	ENSP00000314949:p.Met769Val						p.M769V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2704	+		Prostate(122;0.173)	769					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2305A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283039	0.80803	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.88586	-2.4	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98674	1.0689	10	0.87932	D	0	-15.4911	15.1554	0.72735	1.0:0.0:0.0:0.0	.	769	P24928	RPB1_HUMAN	V	725;769	ENSP00000314949:M769V	ENSP00000314949:M769V	M	+	1	0	SLC35G6	7345728	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.082000	0.94059	2.228000	0.72767	0.533000	0.62120	ATG		0.483	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		5	61	0	0	0	1	0	5	61				
DNAJC13	23317	broad.mit.edu	37	3	132207208	132207208	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:132207208G>A	ENST00000260818.6	+	30	3582	c.3334G>A	c.(3334-3336)Gat>Aat	p.D1112N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1112					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATCATGCAAGATAACCCACA	0.373																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3334-3336)Gat>Aat		DnaJ (Hsp40) homolog, subfamily C, member 13							116.0	107.0	110.0					3																	132207208		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132207208G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3334G>A	3.37:g.132207208G>A	ENSP00000260818:p.Asp1112Asn						p.D1112N	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			30	3582	+			1112					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3334G>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650534	0.96714	.	.	ENSG00000138246	ENST00000260818	T	0.50548	0.74	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74377	-0.3685	10	0.62326	D	0.03	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	1112	O75165	DJC13_HUMAN	N	1112	ENSP00000260818:D1112N	ENSP00000260818:D1112N	D	+	1	0	DNAJC13	133689898	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.374000	0.97172	2.728000	0.93425	0.650000	0.86243	GAT		0.373	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		13	69	0	0	0	1	0	13	69				
CRYGA	1418	broad.mit.edu	37	2	209027942	209027942	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:209027942G>A	ENST00000304502.4	-	2	257	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	80	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGAATTATACGGCAGGATTGG	0.493																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(238-240)Cgt>Tgt		crystallin, gamma A							69.0	73.0	72.0					2																	209027942		2203	4300	6503	SO:0001583	missense	1418							g.chr2:209027942G>A		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.238C>T	2.37:g.209027942G>A	ENSP00000302105:p.Arg80Cys						p.R80C	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	257	-								Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.238C>T	CCDS33367.1	.	.	.	.	.	.	.	.	.	.	G	8.480	0.859533	0.17178	.	.	ENSG00000168582	ENST00000304502	D	0.83163	-1.69	4.64	3.73	0.42828	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.171461	0.50627	D	0.000117	D	0.86653	0.5984	M	0.91038	3.17	0.80722	D	1	P	0.52316	0.952	P	0.45971	0.499	D	0.87601	0.2497	10	0.56958	D	0.05	.	9.9417	0.41585	0.0:0.0:0.6304:0.3696	.	80	P11844	CRGA_HUMAN	C	80	ENSP00000302105:R80C	ENSP00000302105:R80C	R	-	1	0	CRYGA	208736187	0.778000	0.28640	0.850000	0.33497	0.185000	0.23345	0.947000	0.29082	1.244000	0.43870	0.655000	0.94253	CGT		0.493	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		9	49	0	0	0	1	0	9	49				
PRDM7	11105	broad.mit.edu	37	16	90130121	90130121	+	Missense_Mutation	SNP	G	G	A	rs372056005		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:90130121G>A	ENST00000449207.2	-	5	426	c.407C>T	c.(406-408)aCg>aTg	p.T136M	PRDM7_ENST00000407825.1_De_novo_Start_InFrame|PRDM7_ENST00000325921.6_5'Flank	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	136					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TAAATTTGGCGTTCCTGACAA	0.413													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19691	0.0		0.0	False		,,,				2504	0.0					ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5								PR domain containing 7		A	MET/THR	2,3752		0,2,1875	100.0	96.0	97.0		407	-1.7	0.0	16		97	0,8226		0,0,4113	no	missense	PRDM7	NM_001098173.1	81	0,2,5988	AA,AG,GG		0.0,0.0533,0.0167	probably-damaging	136/493	90130121	2,11978	1877	4113	5990	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90130121G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.407C>T	16.37:g.90130121G>A	ENSP00000396732:p.Thr136Met					PRDM7_ENST00000449207.2_Missense_Mutation_p.T136M				Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	0	426	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)						A4Q9G8|Q08EM4|Q9NQW4	Translation_Start_Site	SNP	ENST00000449207.2	37		CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	8.229	0.804226	0.16467	5.33E-4	0.0	ENSG00000126856	ENST00000449207	T	0.12039	2.72	1.6	-1.66	0.08265	.	.	.	.	.	T	0.05227	0.0139	N	0.08118	0	0.09310	N	0.999999	P	0.49783	0.928	B	0.39660	0.306	T	0.34428	-0.9829	8	.	.	.	0.0517	5.0788	0.14646	0.5451:0.0:0.4549:0.0	.	136	Q9NQW5	PRDM7_HUMAN	M	136	ENSP00000396732:T136M	.	T	-	2	0	PRDM7	88657622	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.113000	0.10774	-0.471000	0.06891	-1.367000	0.01198	ACG		0.413	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			6	33	0	0	0	1	0	6	33				
OR5T3	390154	broad.mit.edu	37	11	56020078	56020078	+	Missense_Mutation	SNP	G	G	T	rs143584658		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:56020078G>T	ENST00000303059.3	+	1	403	c.403G>T	c.(403-405)Gtt>Ttt	p.V135F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCTTCTTTTTGTTACTTTTGG	0.383																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(403-405)Gtt>Ttt		olfactory receptor, family 5, subfamily T, member 3							191.0	186.0	188.0					11																	56020078		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020078G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.403G>T	11.37:g.56020078G>T	ENSP00000305403:p.Val135Phe						p.V135F	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	403	+	Esophageal squamous(21;0.00448)		135					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.403G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	3.942	-0.014106	0.07681	.	.	ENSG00000172489	ENST00000303059	T	0.00567	6.54	4.55	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.162766	0.27730	U	0.018090	T	0.00356	0.0011	N	0.25094	0.71	0.09310	N	1	B	0.14438	0.01	B	0.17979	0.02	T	0.50841	-0.8780	10	0.59425	D	0.04	.	0.8555	0.01182	0.3453:0.1683:0.3347:0.1517	.	135	Q8NGG3	OR5T3_HUMAN	F	135	ENSP00000305403:V135F	ENSP00000305403:V135F	V	+	1	0	OR5T3	55776654	0.000000	0.05858	0.032000	0.17829	0.123000	0.20343	-4.102000	0.00295	0.652000	0.30806	0.643000	0.83706	GTT		0.383	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		13	183	1	0	4.3838e-07	1	4.79478e-07	13	183				
RRAD	6236	broad.mit.edu	37	16	66956164	66956164	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:66956164C>T	ENST00000299759.6	-	5	992	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	RRAD_ENST00000420652.1_Missense_Mutation_p.V248M			P55042	RAD_HUMAN	Ras-related associated with diabetes	248					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ATCTGGCGCACGACACCTTCA	0.607																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(742-744)Gtg>Atg		Ras-related associated with diabetes							85.0	67.0	73.0					16																	66956164		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956164C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.742G>A	16.37:g.66956164C>T	ENSP00000299759:p.Val248Met					RRAD_ENST00000420652.1_Missense_Mutation_p.V248M	p.V248M			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	992	-		Ovarian(137;0.192)	248					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.742G>A	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334197	0.95758	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.81330	-1.48;-1.48	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.91338	0.7268	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91205	0.4994	10	0.59425	D	0.04	.	20.328	0.98708	0.0:1.0:0.0:0.0	.	248	P55042	RAD_HUMAN	M	248	ENSP00000388744:V248M;ENSP00000299759:V248M	ENSP00000299759:V248M	V	-	1	0	RRAD	65513665	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	5.722000	0.68485	2.802000	0.96397	0.561000	0.74099	GTG		0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		8	41	0	0	0	1	0	8	41				
TSPEAR	54084	broad.mit.edu	37	21	45949706	45949706	+	Silent	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr21:45949706A>G	ENST00000323084.4	-	5	830	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TSPEAR_ENST00000397916.1_Silent_p.D187D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	255	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCACCTCGTTATCTTCTGGCT	0.637																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(763-765)gaT>gaC		thrombospondin-type laminin G domain and EAR repeats							59.0	66.0	63.0					21																	45949706		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949706A>G	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.765T>C	21.37:g.45949706A>G						TSPEAR_ENST00000397916.1_Silent_p.D187D	p.D255D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	830	-			255						Silent	SNP	ENST00000323084.4	37	c.765T>C	CCDS13712.1																																																																																				0.637	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		9	43	0	0	0	1	0	9	43				
COX6B1	1340	broad.mit.edu	37	19	36145573	36145573	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:36145573G>A	ENST00000592141.1	+	3	472	c.207G>A	c.(205-207)tgG>tgA	p.W69*	COX6B1_ENST00000392201.1_Splice_Site_p.W69*|COX6B1_ENST00000246554.3_Splice_Site_p.W69*			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	69					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACATCCTGGGTATGTGCCT	0.602																																						ENST00000246554.3																			0				lung(6)|prostate(1)|stomach(1)	8						c.e3+1		cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)							127.0	94.0	105.0					19																	36145573		2203	4300	6503	SO:0001630	splice_region_variant	1340				respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	g.chr19:36145573G>A	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2280	protein-coding gene	gene with protein product		124089	"""cytochrome c oxidase subunit Vib"", ""cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"""	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.207+1G>A	19.37:g.36145573G>A						COX6B1_ENST00000592141.1_Splice_Site_p.W69_splice|COX6B1_ENST00000392201.1_Splice_Site_p.W69_splice	p.W69_splice	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	399	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		69					B2R5C9|Q6IBL4	Splice_Site	SNP	ENST00000592141.1	37	c.207_splice	CCDS12469.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980561	0.92982	.	.	ENSG00000126267	ENST00000246554;ENST00000392201	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.7635	15.8518	0.78937	0.0:0.0:1.0:0.0	.	.	.	.	X	69;86	.	ENSP00000246554:W69X	W	+	3	0	COX6B1	40837413	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.061000	0.89467	2.818000	0.97014	0.650000	0.86243	TGG		0.602	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863	Nonsense_Mutation	4	53	0	0	0	1	0	4	53				
GPRIN3	285513	broad.mit.edu	37	4	90171145	90171145	+	Silent	SNP	G	G	A	rs534376091		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:90171145G>A	ENST00000609438.1	-	2	635	c.117C>T	c.(115-117)ctC>ctT	p.L39L	GPRIN3_ENST00000333209.4_Silent_p.L39L	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	39			L -> V (in dbSNP:rs11734353).							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTTACACAGGAGAGCTGGTC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18817	0.0		0.0	False		,,,				2504	0.0					ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(115-117)ctC>ctT		GPRIN family member 3							63.0	66.0	65.0					4																	90171145		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90171145G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.117C>T	4.37:g.90171145G>A							p.L39L	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	635	-		Hepatocellular(203;0.114)	39		L -> V (in dbSNP:rs11734353).			Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.117C>T	CCDS34030.1																																																																																				0.557	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		4	69	0	0	0	1	0	4	69				
C10orf10	11067	broad.mit.edu	37	10	45473358	45473358	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:45473358C>T	ENST00000298295.3	-	2	338	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.5_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	41						mitochondrion (GO:0005739)				lung(1)	1						ATAGACCTCACGTAGTCATCC	0.662																																						ENST00000298295.3																			0				lung(1)	1						c.(121-123)Gtg>Atg		chromosome 10 open reading frame 10							55.0	56.0	55.0					10																	45473358		2201	4299	6500	SO:0001583	missense	11067					mitochondrion		g.chr10:45473358C>T	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.121G>A	10.37:g.45473358C>T	ENSP00000298295:p.Val41Met					RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron	p.V41M	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	338	-			41					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.121G>A	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867319	0.51588	.	.	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	T;T	0.58940	0.3;0.3	5.69	3.86	0.44501	.	0.000000	0.42420	D	0.000703	T	0.60869	0.2302	L	0.36672	1.1	0.31028	N	0.7178	D	0.71674	0.998	P	0.61722	0.893	T	0.64232	-0.6456	10	0.87932	D	0	-18.1925	8.9623	0.35854	0.0:0.8461:0.0:0.1539	.	41	Q9NTK1	DEPP_HUMAN	M	41	ENSP00000298295:V41M;ENSP00000414494:V41M	ENSP00000298295:V41M	V	-	1	0	C10orf10	44793364	0.196000	0.23350	0.650000	0.29550	0.394000	0.30568	0.805000	0.27112	0.765000	0.33221	0.561000	0.74099	GTG		0.662	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		8	72	0	0	0	1	0	8	72				
MRPL42	28977	broad.mit.edu	37	12	93881384	93881384	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:93881384C>A	ENST00000549982.1	+	5	492	c.331C>A	c.(331-333)Caa>Aaa	p.Q111K	MRPL42_ENST00000548545.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000361630.2_Missense_Mutation_p.Q111K|MRPL42_ENST00000552217.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000547098.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000393128.4_Missense_Mutation_p.Q111K	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	111					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TATGATAGAACAACTTAGCAA	0.378																																						ENST00000549982.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						c.(331-333)Caa>Aaa		mitochondrial ribosomal protein L42							144.0	131.0	135.0					12																	93881384		2203	4300	6503	SO:0001583	missense	28977				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr12:93881384C>A	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.331C>A	12.37:g.93881384C>A	ENSP00000449884:p.Gln111Lys					MRPL42_ENST00000552217.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000548545.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000547098.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000393128.4_Missense_Mutation_p.Q111K|MRPL42_ENST00000361630.2_Missense_Mutation_p.Q111K	p.Q111K	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN			5	492	+			111					Q6FID1|Q96Q48|Q9P0S1	Missense_Mutation	SNP	ENST00000549982.1	37	c.331C>A	CCDS9045.1	.	.	.	.	.	.	.	.	.	.	C	6.202	0.405378	0.11754	.	.	ENSG00000198015	ENST00000549982;ENST00000361630;ENST00000552217;ENST00000393128	.	.	.	4.98	3.03	0.35002	.	0.153263	0.42821	N	0.000646	T	0.39784	0.1091	L	0.41236	1.265	0.22500	N	0.999041	B;B	0.10296	0.002;0.003	B;B	0.16722	0.006;0.016	T	0.32613	-0.9900	9	0.44086	T	0.13	-13.0511	13.8008	0.63199	0.0973:0.7093:0.1934:0.0	.	111;111	Q9Y6G3;A6NCI0	RM42_HUMAN;.	K	111	.	ENSP00000355202:Q111K	Q	+	1	0	MRPL42	92405515	1.000000	0.71417	0.997000	0.53966	0.261000	0.26267	2.024000	0.41049	0.626000	0.30322	-1.378000	0.01179	CAA		0.378	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		8	140	1	0	0.307466	1	0.307466	8	140				
CACNA2D3	55799	broad.mit.edu	37	3	54615867	54615867	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:54615867A>G	ENST00000474759.1	+	9	974	c.926A>G	c.(925-927)aAt>aGt	p.N309S	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N309S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N309S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N215S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	309	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CCTTGCCTGAATGGAACTTTG	0.448																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(925-927)aAt>aGt		calcium channel, voltage-dependent, alpha 2/delta subunit 3							92.0	93.0	93.0					3																	54615867		1881	4106	5987	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54615867A>G	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.926A>G	3.37:g.54615867A>G	ENSP00000419101:p.Asn309Ser					CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N309S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N215S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N309S	p.N309S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	9	974	+			309			VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.926A>G	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462530	0.63513	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.99	4.84	0.62591	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.25286	0.73	0.38552	D	0.949474	P	0.42161	0.772	P	0.46758	0.526	T	0.10497	-1.0627	10	0.42905	T	0.14	.	10.5238	0.44936	0.9277:0.0:0.0723:0.0	.	309	Q8IZS8	CA2D3_HUMAN	S	309;309;309;215;215;214	ENSP00000389506:N309S;ENSP00000419101:N309S;ENSP00000288197:N309S;ENSP00000417279:N215S	ENSP00000288197:N309S	N	+	2	0	CACNA2D3	54590907	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.747000	0.85070	1.100000	0.41517	0.533000	0.62120	AAT		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			3	38	0	0	0	1	0	3	38				
DTX1	1840	broad.mit.edu	37	12	113534718	113534718	+	Missense_Mutation	SNP	G	G	A	rs200652619	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:113534718G>A	ENST00000257600.3	+	9	2340	c.1837G>A	c.(1837-1839)Gta>Ata	p.V613I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	613					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCCCAGGGCGTATCCGAGGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		21245	0.001		0.0	False		,,,				2504	0.001					ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1837-1839)Gta>Ata		deltex homolog 1 (Drosophila)							47.0	37.0	41.0					12																	113534718		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534718G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1837G>A	12.37:g.113534718G>A	ENSP00000257600:p.Val613Ile					DTX1_ENST00000547974.1_3'UTR	p.V613I	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2340	+			613					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1837G>A	CCDS9164.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.845	1.191985	0.21954	.	.	ENSG00000135144	ENST00000257600	T	0.45668	0.89	4.99	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.16266	0.395	0.49582	D	0.999802	P	0.37636	0.603	B	0.27608	0.081	T	0.03545	-1.1026	10	0.30078	T	0.28	-1.6423	10.1668	0.42886	0.1601:0.0:0.8399:0.0	.	613	Q86Y01	DTX1_HUMAN	I	613	ENSP00000257600:V613I	ENSP00000257600:V613I	V	+	1	0	DTX1	112019101	1.000000	0.71417	0.009000	0.14445	0.186000	0.23388	3.432000	0.52824	0.517000	0.28361	0.561000	0.74099	GTA		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			3	17	0	0	0	1	0	3	17				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	63	0	0	0	1	0	4	63				
PCDHGA1	56114	broad.mit.edu	37	5	140712371	140712371	+	Missense_Mutation	SNP	T	T	G	rs532160123		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:140712371T>G	ENST00000517417.1	+	1	2120	c.2120T>G	c.(2119-2121)tTc>tGc	p.F707C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F707C	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	707					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGGCCTTCGTCATCGTG	0.662																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2119-2121)tTc>tGc									66.0	75.0	72.0					5																	140712371		2203	4298	6501	SO:0001583	missense	0							g.chr5:140712371T>G	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2120T>G	5.37:g.140712371T>G	ENSP00000431083:p.Phe707Cys					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F707C	p.F707C	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2120	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2120T>G	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377591	0.24944	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51817	0.75;0.69	3.87	3.87	0.44632	.	0.000000	0.50627	D	0.000107	T	0.71074	0.3297	M	0.89214	3.015	0.24151	N	0.995694	D;D	0.76494	0.992;0.999	D;D	0.72625	0.978;0.95	T	0.65623	-0.6123	10	0.87932	D	0	.	12.8288	0.57735	0.0:0.0:0.0:1.0	.	707;707	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	C	707	ENSP00000431083:F707C;ENSP00000367345:F707C	ENSP00000367345:F707C	F	+	2	0	PCDHGA1	140692555	0.000000	0.05858	0.505000	0.27651	0.010000	0.07245	0.453000	0.21811	1.757000	0.51966	0.477000	0.44152	TTC		0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		5	151	0	0	0	1	0	5	151				
RYR2	6262	broad.mit.edu	37	1	237729966	237729966	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:237729966T>C	ENST00000366574.2	+	28	3631	c.3314T>C	c.(3313-3315)tTt>tCt	p.F1105S	RYR2_ENST00000542537.1_Missense_Mutation_p.F1089S|RYR2_ENST00000360064.6_Missense_Mutation_p.F1103S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1105	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTTTGAATTTGAGACGGTC	0.557																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3313-3315)tTt>tCt		ryanodine receptor 2 (cardiac)							167.0	167.0	167.0					1																	237729966		1996	4161	6157	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729966T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3314T>C	1.37:g.237729966T>C	ENSP00000355533:p.Phe1105Ser					RYR2_ENST00000360064.6_Missense_Mutation_p.F1103S|RYR2_ENST00000542537.1_Missense_Mutation_p.F1089S	p.F1105S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3631	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1105			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3314T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	30	5.057453	0.93846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60797	0.16;0.16;0.16	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.085402	0.48767	D	0.000178	T	0.66499	0.2795	M	0.85373	2.75	0.80722	D	1	P	0.42584	0.784	B	0.42495	0.389	T	0.74284	-0.3715	10	0.87932	D	0	.	15.4443	0.75216	0.0:0.0:0.0:1.0	.	1105	Q92736	RYR2_HUMAN	S	1105;1103;1089	ENSP00000355533:F1105S;ENSP00000353174:F1103S;ENSP00000443798:F1089S	ENSP00000353174:F1103S	F	+	2	0	RYR2	235796589	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.928000	0.87587	2.052000	0.61016	0.533000	0.62120	TTT		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	151	0	0	0	1	0	22	151				
B4GALT4	8702	broad.mit.edu	37	3	118935161	118935161	+	Silent	SNP	C	C	T			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:118935161C>T	ENST00000483209.1	-	7	1469	c.828G>A	c.(826-828)cgG>cgA	p.R276R	B4GALT4_ENST00000359213.3_Silent_p.R276R|B4GALT4_ENST00000467604.1_Silent_p.R276R|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.R276R			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	276					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CAGGCAGGGGCCGGGAAATTT	0.418																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(826-828)cgG>cgA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						102.0	101.0	101.0					3																	118935161		2203	4300	6503	SO:0001819	synonymous_variant	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118935161C>T	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.828G>A	3.37:g.118935161C>T						B4GALT4_ENST00000393765.2_Silent_p.R276R|B4GALT4_ENST00000359213.3_Silent_p.R276R|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.R276R	p.R276R			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	7	1219	-			276					Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	c.828G>A	CCDS2986.1																																																																																				0.418	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		10	73	0	0	0	1	0	10	73				
CAMK2B	816	broad.mit.edu	37	7	44323782	44323782	+	Silent	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:44323782G>A	ENST00000395749.2	-	2	184	c.108C>T	c.(106-108)acC>acT	p.T36T	CAMK2B_ENST00000258682.6_Silent_p.T36T|CAMK2B_ENST00000457475.1_Silent_p.T36T|CAMK2B_ENST00000353625.4_Silent_p.T36T|CAMK2B_ENST00000395747.2_Silent_p.T36T|CAMK2B_ENST00000346990.4_Silent_p.T36T|CAMK2B_ENST00000350811.3_Silent_p.T36T|CAMK2B_ENST00000440254.2_Silent_p.T36T|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000347193.4_Silent_p.T36T|CAMK2B_ENST00000358707.3_Silent_p.T36T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACTCATGGCCGGTGCAGAGCT	0.587																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(106-108)acC>acT		calcium/calmodulin-dependent protein kinase II beta							137.0	108.0	118.0					7																	44323782		2202	4300	6502	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44323782G>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.108C>T	7.37:g.44323782G>A						CAMK2B_ENST00000258682.6_Silent_p.T36T|CAMK2B_ENST00000457475.1_Silent_p.T36T|CAMK2B_ENST00000395747.2_Silent_p.T36T|CAMK2B_ENST00000350811.3_Silent_p.T36T|CAMK2B_ENST00000346990.4_Silent_p.T36T|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000353625.4_Silent_p.T36T|CAMK2B_ENST00000358707.3_Silent_p.T36T|CAMK2B_ENST00000347193.4_Silent_p.T36T|CAMK2B_ENST00000440254.2_Silent_p.T36T	p.T36T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			2	184	-			36			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.108C>T	CCDS5483.1																																																																																				0.587	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		3	30	0	0	0	1	0	3	30				
CYP11A1	1583	broad.mit.edu	37	15	74659800	74659800	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr15:74659800G>A	ENST00000268053.6	-	1	281	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	CTD-2311M21.3_ENST00000568496.1_RNA|CYP11A1_ENST00000419019.2_5'Flank|CYP11A1_ENST00000541301.1_Missense_Mutation_p.R43C|CYP11A1_ENST00000358632.4_5'Flank|CYP11A1_ENST00000467407.1_5'UTR|CTD-2311M21.2_ENST00000562009.1_RNA	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	43					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CGAGGACTGCGGGTGGAGATG	0.617																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000268053.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(127-129)Cgc>Tgc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						86.0	83.0	84.0					15																	74659800		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74659800G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.127C>T	15.37:g.74659800G>A	ENSP00000268053:p.Arg43Cys					CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Missense_Mutation_p.R43C	p.R43C	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN			1	281	-			43					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.127C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.349388	0.61183	.	.	ENSG00000140459	ENST00000268053;ENST00000541301;ENST00000433240;ENST00000416978	T;D;D	0.85484	-1.1;-1.88;-1.99	4.14	-0.545	0.11843	.	1.402880	0.04182	N	0.326696	T	0.79411	0.4441	N	0.19112	0.55	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.997	P;P;P	0.49502	0.613;0.517;0.517	T	0.68965	-0.5270	10	0.62326	D	0.03	-17.5479	5.6	0.17349	0.1037:0.0:0.353:0.5434	.	43;43;43	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	C	43	ENSP00000268053:R43C;ENSP00000439750:R43C;ENSP00000388018:R43C	ENSP00000268053:R43C	R	-	1	0	CYP11A1	72446853	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	0.581000	0.23819	-0.008000	0.14320	0.537000	0.68136	CGC		0.617	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			7	44	0	0	0	1	0	7	44				
PTEN	5728	broad.mit.edu	37	10	89717741	89717741	+	Nonsense_Mutation	SNP	G	G	T	rs121909228		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:89717741G>T	ENST00000371953.3	+	7	2123	c.766G>T	c.(766-768)Gag>Tag	p.E256*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	256	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATCAAAGTAGAGTTCTTCCA	0.373		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(2)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - deletion inframe(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(4)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM981674	PTEN	M	rs121909228	c.(766-768)Gag>Tag		phosphatase and tensin homolog							112.0	100.0	104.0					10																	89717741		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717741G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.766G>T	10.37:g.89717741G>T	ENSP00000361021:p.Glu256*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.E256*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2123	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	256			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.766G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	49	15.441335	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.047328	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3451	18.6161	0.91303	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	.	E	+	1	0	PTEN	89707721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.380000	0.81148	0.585000	0.79938	GAG		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		17	71	1	0	5.03518e-11	1	5.77808e-11	17	71				
TMEM225	338661	broad.mit.edu	37	11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	rs114749572	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													C|||	13	0.00259585	0.0098	0.0	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.0					ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(655-657)cGt>cAt		transmembrane protein 225		C	HIS/ARG	32,4372	36.8+/-68.6	1,30,2171	178.0	164.0	168.0		656	-0.0	0.0	11	dbSNP_132	168	0,8598		0,0,4299	no	missense	TMEM225	NM_001013743.1	29	1,30,6470	TT,TC,CC		0.0,0.7266,0.2461	benign	219/226	123753867	32,12970	2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753867C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.656G>A	11.37:g.123753867C>T	ENSP00000364166:p.Arg219His						p.R219H	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	872	-			219						Missense_Mutation	SNP	ENST00000375026.2	37	c.656G>A	CCDS31697.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	7.176	0.588549	0.13812	0.007266	0.0	ENSG00000204300	ENST00000375026	T	0.37584	1.19	3.89	-0.0361	0.13890	.	0.000000	0.45361	D	0.000362	T	0.13884	0.0336	N	0.20986	0.625	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.10730	-1.0617	10	0.52906	T	0.07	-4.2744	6.7241	0.23346	0.0:0.5946:0.0:0.4054	.	219	Q6GV28	TM225_HUMAN	H	219	ENSP00000364166:R219H	ENSP00000364166:R219H	R	-	2	0	TMEM225	123259077	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.764000	0.26532	0.004000	0.14682	-1.619000	0.00793	CGT		0.418	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		7	84	0	0	0	1	0	7	84				
LY6G6C	80740	broad.mit.edu	37	6	31691585	31691585	+	5'Flank	SNP	C	C	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:31691585C>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000375805.2_Silent_p.L77L|C6orf25_ENST00000480039.1_Silent_p.L77L|C6orf25_ENST00000375809.3_Silent_p.L77L|C6orf25_ENST00000375810.4_Silent_p.L77L|LY6G6C_ENST00000495859.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TGCCTCCCCTCCAGCCTTTCG	0.687																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(229-231)ctC>ctA		chromosome 6 open reading frame 25							49.0	59.0	56.0					6																	31691585		2203	4298	6501	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31691585C>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691585C>A	Exception_encountered					C6orf25_ENST00000480039.1_Silent_p.L77L|C6orf25_ENST00000375810.4_Silent_p.L77L|C6orf25_ENST00000375805.2_Silent_p.L77L	p.L77L	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			2	242	+			77					Q5SRS8|Q8IY94	Silent	SNP	ENST00000375819.2	37	c.231C>A	CCDS4714.1																																																																																				0.687	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			6	83	1	0	3.59834e-05	1	3.81642e-05	6	83				
MISP	126353	broad.mit.edu	37	19	757280	757280	+	Missense_Mutation	SNP	C	C	T	rs149547647		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:757280C>T	ENST00000215582.6	+	2	437	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	112					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATGGGCACTCCGCCCAGAGGA	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18033	0.0		0.0	False		,,,				2504	0.0					ENST00000215582.6																			0											c.(334-336)Cgc>Tgc		mitotic spindle positioning		C	CYS/ARG	0,4406		0,0,2203	55.0	47.0	49.0		334	-0.9	0.0	19	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf21	NM_173481.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	112/680	757280	1,13005	2203	4300	6503	SO:0001583	missense	126353							g.chr19:757280C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.334C>T	19.37:g.757280C>T	ENSP00000215582:p.Arg112Cys						p.R112C	NM_173481.2	NP_775752.1					2	437	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.334C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253591	0.10185	0.0	1.16E-4	ENSG00000099812	ENST00000215582	T	0.14893	2.47	1.77	-0.898	0.10550	.	2.624880	0.02267	U	0.068079	T	0.05181	0.0138	N	0.02011	-0.69	0.09310	N	1	P	0.38048	0.616	B	0.21546	0.035	T	0.13818	-1.0495	10	0.40728	T	0.16	1.116	4.5036	0.11876	0.0:0.5316:0.0:0.4684	.	112	Q8IVT2	CS021_HUMAN	C	112	ENSP00000215582:R112C	ENSP00000215582:R112C	R	+	1	0	C19orf21	708280	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.891000	0.04135	-0.237000	0.09739	0.313000	0.20887	CGC		0.677	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		5	31	0	0	0	1	0	5	31				
ZNF681	148213	broad.mit.edu	37	19	23938242	23938242	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:23938242T>C	ENST00000402377.3	-	2	256	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGACCAGGTTTCTGTAGTTC	0.348																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(115-117)Aac>Gac		zinc finger protein 681							101.0	112.0	108.0					19																	23938242		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23938242T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.115A>G	19.37:g.23938242T>C	ENSP00000384000:p.Asn39Asp					ZNF681_ENST00000395385.3_Intron	p.N39D	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			2	256	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	39			KRAB.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.115A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578514	0.28180	.	.	ENSG00000196172	ENST00000402377	T	0.02345	4.33	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.15522	0.0374	M	0.93462	3.42	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.00485	-1.1711	9	0.87932	D	0	.	4.1617	0.10287	0.0:0.0:0.0:1.0	.	39	Q96N22	ZN681_HUMAN	D	39	ENSP00000384000:N39D	ENSP00000384000:N39D	N	-	1	0	ZNF681	23730082	0.003000	0.15002	0.605000	0.28930	0.606000	0.37113	0.617000	0.24359	0.383000	0.24910	0.377000	0.23210	AAC		0.348	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		4	241	0	0	0	1	0	4	241				
TRIM24	8805	broad.mit.edu	37	7	138223421	138223421	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:138223421G>A	ENST00000343526.4	+	7	1231	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.R339H			O15164	TIF1A_HUMAN	tripartite motif containing 24	339					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGGACCATCGCATGAAACTT	0.388																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1015-1017)cGc>cAc		tripartite motif containing 24							128.0	118.0	121.0					7																	138223421		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138223421G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1016G>A	7.37:g.138223421G>A	ENSP00000340507:p.Arg339His					TRIM24_ENST00000415680.2_Missense_Mutation_p.R339H|TRIM24_ENST00000497516.1_3'UTR	p.R339H			O15164	TIF1A_HUMAN			7	1231	+			339					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1016G>A	CCDS5847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.548459|4.548459	0.86127|0.86127	.|.	.|.	ENSG00000122779|ENSG00000122779	ENST00000452999|ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	.|T;T	.|0.76968	.|-1.06;-1.04	5.54|5.54	5.54|5.54	0.83059|0.83059	.|B-box, C-terminal (1);	.|0.106313	.|0.64402	.|D	.|0.000005	.|D	.|0.86810	.|0.6022	M|M	0.62723|0.62723	1.935|1.935	0.49051|0.49051	D|D	0.999743|0.999743	.|P;D	.|0.76494	.|0.7;0.999	.|B;D	.|0.69824	.|0.32;0.966	.|D	.|0.87047	.|0.2144	.|10	.|0.59425	.|D	.|0.04	.|-10.9757	19.0827|19.0827	0.93188|0.93188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|339;339	.|O15164;O15164-2	.|TIF1A_HUMAN;.	.|H	-1|339;250;339;297	.|ENSP00000340507:R339H;ENSP00000390829:R339H	.|ENSP00000340507:R339H	.|R	+|+	.|2	.|0	TRIM24|TRIM24	137873961|137873961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.083000|4.083000	0.57643|0.57643	2.602000|2.602000	0.87976|0.87976	0.585000|0.585000	0.79938|0.79938	.|CGC		0.388	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		4	116	0	0	0	1	0	4	116				
ADAMTS16	170690	broad.mit.edu	37	5	5242305	5242305	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:5242305G>A	ENST00000274181.7	+	17	2800		c.e17+1			NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCGGAGGGGGTAGGTGCCTT	0.627																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.e17+1		ADAM metallopeptidase with thrombospondin type 1 motif, 16							38.0	43.0	41.0					5																	5242305		2123	4234	6357	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242305G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2662+1G>A	5.37:g.5242305G>A								NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			17	2800	+								C6G490|Q8IVE2	Splice_Site	SNP	ENST00000274181.7	37		CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198380	0.79015	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.077	0.89430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS16	5295305	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.275000	0.89892	2.554000	0.86153	0.650000	0.86243	.		0.627	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	Intron	5	33	0	0	0	1	0	5	33				
COL9A2	1298	broad.mit.edu	37	1	40781308	40781308	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:40781308delG	ENST00000372748.3	-	2	200	c.104delC	c.(103-105)ccgfs	p.P35fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	35	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CGGGGGACCCGGGGGGCCCCG	0.682																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(103-105)cgfs		collagen, type IX, alpha 2							5.0	5.0	5.0					1																	40781308		2026	3967	5993	SO:0001589	frameshift_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40781308delG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.104delC	1.37:g.40781308delG	ENSP00000361834:p.Pro35fs						p.P35fs	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		2	200	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	35			Triple-helical region 4 (COL4).		B2RMP9	Frame_Shift_Del	DEL	ENST00000372748.3	37	c.104delC	CCDS450.1																																																																																				0.682	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		2	4						2	4	---	---	---	---
SETMAR	6419	broad.mit.edu	37	3	4355487	4355488	+	Intron	INS	-	-	G			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:4355487_4355488insG	ENST00000358065.4	+	2	1087				SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.G355fs|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene						DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CTCCCTATAGTGGAAGACAGTG	0.505								Chromatin Structure																														ENST00000430981.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(1060-1065)aggaagfs	Chromatin Structure	SET domain and mariner transposase fusion gene																																				SO:0001627	intron_variant	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355487_4355488insG	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1020+42->G	3.37:g.4355489_4355489dupG						SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000358065.4_Intron|SUMF1_ENST00000534863.1_Intron	p.K355fs	NM_001276325.1	NP_001263254.1	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	1072_1073	+		Melanoma(143;0.0657)	0			Mariner transposase Hsmar1.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Frame_Shift_Ins	INS	ENST00000358065.4	37	c.1062_1063insG	CCDS2563.2																																																																																				0.505	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		7	37						7	37	---	---	---	---
COQ3	51805	broad.mit.edu	37	6	99817677	99817680	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs112847497		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:99817677_99817680delTGTT	ENST00000254759.3	-	7	930_933	c.906_909delAACA	c.(904-909)caaacafs	p.QT302fs	COQ3_ENST00000369242.1_Frame_Shift_Del_p.QT74fs|COQ3_ENST00000369240.1_Frame_Shift_Del_p.QT74fs	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	302					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTCCTACCACTGTTTGAACTGACA	0.368																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(904-909)cafs		coenzyme Q3 methyltransferase																																				SO:0001589	frameshift_variant	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99817677_99817680delTGTT	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.906_909delAACA	6.37:g.99817677_99817680delTGTT	ENSP00000254759:p.Gln302fs					COQ3_ENST00000369242.1_Frame_Shift_Del_p.QT74fs|COQ3_ENST00000369240.1_Frame_Shift_Del_p.QT74fs	p.QT302fs	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	7	930_933	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	302					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Frame_Shift_Del	DEL	ENST00000254759.3	37	c.906_909delAACA	CCDS5042.1																																																																																				0.368	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		9	198						9	198	---	---	---	---
SPDYE18	100505767	broad.mit.edu	37	7	76682746	76682747	+	RNA	INS	-	-	T	rs139676054	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:76682746_76682747insT	ENST00000459742.1	+	0	58																											GTggccgagagtggtggcttat	0.594													t|T|TT|insertion	237	0.0473243	0.0008	0.0202	5008	,	,		28871	0.1766		0.0089	False		,,,				2504	0.0358					ENST00000459742.1																			0																																																			0							g.chr7:76682746_76682747insT																													7.37:g.76682747_76682747dupT														0	58	+									RNA	INS	ENST00000459742.1	37																																																																																						0.594	RP11-467H10.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473089.1			3	4						3	4	---	---	---	---
LOC643542	643542	broad.mit.edu	37	18	65270178	65270178	+	lincRNA	DEL	C	C	-			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr18:65270178delC	ENST00000583687.1	+	0	204					NR_033921.1																						TCTATTTCAGCAGAAGCCAGG	0.363																																						ENST00000583687.1																			0																																																			0							g.chr18:65270178delC																													18.37:g.65270178delC								NR_033921.1						0	204	+									RNA	DEL	ENST00000583687.1	37																																																																																						0.363	RP11-638L3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442415.1			2	4						2	4	---	---	---	---
