#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HFM1	164045	broad.mit.edu	37	1	91859724	91859724	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:91859724C>G	ENST00000370425.3	-	4	518	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	140					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAGGAACACTCTTCTCAGGTG	0.333																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(418-420)aaG>aaC		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							88.0	87.0	88.0					1																	91859724		2202	4300	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859724C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.420G>C	1.37:g.91859724C>G	ENSP00000359454:p.Lys140Asn		Somatic				HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.K140N	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	518	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	140					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.420G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	7.773	0.707811	0.15239	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444	T;T	0.60424	0.19;1.24	4.13	-4.34	0.03666	.	.	.	.	.	T	0.14830	0.0358	L	0.29908	0.895	0.20307	N	0.999917	B;B	0.33694	0.421;0.148	B;B	0.26969	0.075;0.051	T	0.08452	-1.0721	9	0.54805	T	0.06	.	1.7927	0.03055	0.1541:0.3983:0.1569:0.2907	.	140;140	B7ZM16;A2PYH4	.;HFM1_HUMAN	N	140;173;98	ENSP00000359454:K140N;ENSP00000388900:K98N	ENSP00000359454:K140N	K	-	3	2	HFM1	91632312	0.001000	0.12720	0.003000	0.11579	0.389000	0.30415	-0.371000	0.07513	-0.920000	0.03799	-0.469000	0.05056	AAG		0.333	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		21	66	21	66	---	---	---	---
VIT	5212	broad.mit.edu	37	2	37035976	37035976	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:37035976G>A	ENST00000389975.3	+	14	2008	c.1706G>A	c.(1705-1707)aGt>aAt	p.S569N	VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000379242.3_Missense_Mutation_p.S584N	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	569	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTACTGGAGTGGTGGCACC	0.567																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1750-1752)aGt>aAt		vitrin							82.0	77.0	79.0					2																	37035976		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035976G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1706G>A	2.37:g.37035976G>A	ENSP00000374625:p.Ser569Asn		Somatic				VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N	p.S584N	NM_053276.3	NP_444506.2	WXS	Illumina GAIIx	Phase_I	Q6UXI7	VITRN_HUMAN			15	2053	+		all_hematologic(82;0.248)	569			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1751G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672644	0.67928	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	L	0.38733	1.17	0.58432	D	0.999995	D;P;D;D	0.76494	0.996;0.95;0.996;0.999	D;P;D;D	0.68353	0.957;0.828;0.957;0.928	T	0.80276	-0.1450	10	0.38643	T	0.18	-18.5675	13.8446	0.63459	0.0736:0.0:0.9264:0.0	.	548;547;569;584	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	N	584;569;238;521;547;548	ENSP00000368544:S584N;ENSP00000374625:S569N;ENSP00000417874:S238N;ENSP00000384154:S521N;ENSP00000368543:S547N;ENSP00000385658:S548N	ENSP00000368543:S547N	S	+	2	0	VIT	36889480	1.000000	0.71417	0.923000	0.36655	0.757000	0.42996	8.022000	0.88759	1.225000	0.43566	0.557000	0.71058	AGT		0.567	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				3	64	3	64	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63282957	63282957	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:63282957G>A	ENST00000282549.2	+	5	847	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	OTX1_ENST00000366671.3_Missense_Mutation_p.V191M	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	191					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCGCGTCCGTGTCGGTGCC	0.682																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(571-573)Gtg>Atg		orthodenticle homeobox 1							13.0	15.0	14.0					2																	63282957		2190	4286	6476	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282957G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.571G>A	2.37:g.63282957G>A	ENSP00000282549:p.Val191Met		Somatic				OTX1_ENST00000282549.2_Missense_Mutation_p.V191M	p.V191M	NM_001199770.1	NP_001186699.1	WXS	Illumina GAIIx	Phase_I	P32242	OTX1_HUMAN			5	847	+	Lung NSC(7;0.121)|all_lung(7;0.211)		191					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.571G>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386865	0.42308	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90261	-2.64;-2.64	3.41	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.724429	0.12380	N	0.474030	D	0.84037	0.5384	L	0.44542	1.39	0.29651	N	0.843923	D	0.59357	0.985	B	0.40038	0.317	T	0.78518	-0.2173	10	0.33141	T	0.24	.	6.7278	0.23367	0.1313:0.0:0.8687:0.0	.	191	P32242	OTX1_HUMAN	M	191	ENSP00000355631:V191M;ENSP00000282549:V191M	ENSP00000282549:V191M	V	+	1	0	OTX1	63136461	1.000000	0.71417	0.717000	0.30585	0.743000	0.42351	4.249000	0.58766	1.901000	0.55032	0.462000	0.41574	GTG		0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			3	16	3	16	---	---	---	---
DOK1	1796	broad.mit.edu	37	2	74783766	74783766	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:74783766C>G	ENST00000233668.5	+	5	1640	c.971C>G	c.(970-972)gCt>gGt	p.A324G	M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000340004.6_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	324					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCACGTCTGCTCAGGCAGGA	0.567																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(970-972)gCt>gGt		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							80.0	84.0	83.0					2																	74783766		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783766C>G	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.971C>G	2.37:g.74783766C>G	ENSP00000233668:p.Ala324Gly		Somatic				DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000340004.6_3'UTR	p.A324G	NM_001381.3	NP_001372.1	WXS	Illumina GAIIx	Phase_I	Q99704	DOK1_HUMAN			5	1640	+			324					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.971C>G	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	C	1.289	-0.608073	0.03717	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.32753	1.44;1.46	4.71	3.74	0.42951	.	0.312733	0.21958	N	0.066634	T	0.18425	0.0442	L	0.35414	1.06	0.18873	N	0.999985	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.10268	-1.0637	10	0.18276	T	0.48	-32.1236	5.1701	0.15105	0.0:0.6695:0.2146:0.1159	.	313;324	B4DJN1;Q99704	.;DOK1_HUMAN	G	185;324	ENSP00000387016:A185G;ENSP00000233668:A324G	ENSP00000233668:A324G	A	+	2	0	DOK1	74637274	0.032000	0.19561	0.280000	0.24747	0.090000	0.18270	0.526000	0.22971	2.448000	0.82819	0.561000	0.74099	GCT		0.567	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		26	100	26	100	---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170885949	170885949	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:170885949T>A	ENST00000272793.5	+	31	4597	c.4547T>A	c.(4546-4548)aTg>aAg	p.M1516K	UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K|UBR3_ENST00000392631.1_Missense_Mutation_p.M337K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1516					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGAAGAGATGAATCCACAG	0.318																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(4546-4548)aTg>aAg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							78.0	74.0	75.0					2																	170885949		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170885949T>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4547T>A	2.37:g.170885949T>A	ENSP00000272793:p.Met1516Lys		Somatic				UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K	p.M1516K			WXS	Illumina GAIIx	Phase_I	Q6ZT12	UBR3_HUMAN			31	4597	+			1516					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.4547T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.044|2.044	-0.419377|-0.419377	0.04766|0.04766	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.377771|.	0.33023|.	N|.	0.005379|.	T|.	0.17152|.	0.0412|.	N|N	0.04508|0.04508	-0.205|-0.205	0.25696|0.25696	N|N	0.985634|0.985634	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|.	0.15723|.	-1.0427|.	10|.	0.05959|.	T|.	0.93|.	.|.	7.9521|7.9521	0.30021|0.30021	0.2949:0.0:0.0:0.7051|0.2949:0.0:0.0:0.7051	.|.	1516;337;1545|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	K|R	1516;1545;1516;337;216|578	ENSP00000272793:M1516K;ENSP00000396068:M1516K;ENSP00000376408:M337K;ENSP00000389097:M216K|.	ENSP00000272793:M1516K|.	M|X	+|+	2|1	0|0	UBR3|UBR3	170594195|170594195	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.859000|0.859000	0.49053|0.49053	0.723000|0.723000	0.25939|0.25939	1.876000|1.876000	0.54355|0.54355	0.460000|0.460000	0.39030|0.39030	ATG|TGA		0.318	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		13	33	13	33	---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146246434	146246434	+	Silent	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146246434T>C	ENST00000342435.4	-	4	689	c.279A>G	c.(277-279)ttA>ttG	p.L93L	PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	93					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GTGGACAGTTTAATGGAGGCT	0.428																																						ENST00000342435.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(277-279)ttA>ttG		phospholipid scramblase 1							99.0	105.0	103.0					3																	146246434		2203	4300	6503	SO:0001819	synonymous_variant	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246434T>C	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.279A>G	3.37:g.146246434T>C			Somatic				PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron	p.L93L	NM_021105.2	NP_066928.1	WXS	Illumina GAIIx	Phase_I	O15162	PLS1_HUMAN			4	689	-			93					B2R8H8|B4DTE8	Silent	SNP	ENST00000342435.4	37	c.279A>G	CCDS3135.1																																																																																				0.428	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		65	99	65	99	---	---	---	---
PLSCR5	389158	broad.mit.edu	37	3	146307581	146307581	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146307581C>T	ENST00000443512.1	-	6	1639	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PLSCR5_ENST00000482567.1_Silent_p.K200K|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5-AS1_ENST00000473817.1_RNA	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAATTGTAAGCTTTTCATTAA	0.328																																						ENST00000443512.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(634-636)aaG>aaA		phospholipid scramblase family, member 5							106.0	103.0	104.0					3																	146307581		1818	4070	5888	SO:0001819	synonymous_variant	389158							g.chr3:146307581C>T	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.636G>A	3.37:g.146307581C>T			Somatic				PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5_ENST00000482567.1_Silent_p.K200K	p.K212K	NM_001085420.1	NP_001078889.1	WXS	Illumina GAIIx	Phase_I	A0PG75	PLS5_HUMAN			6	1639	-			212					B2RXK5	Silent	SNP	ENST00000443512.1	37	c.636G>A	CCDS46931.1																																																																																				0.328	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		3	53	3	53	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183778109	183778109	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:183778109T>A	ENST00000318351.1	+	9	1347	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	438					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GCCTCCTCCATCCTTACTGTC	0.567																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(1312-1314)aTc>aAc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							235.0	198.0	210.0					3																	183778109		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183778109T>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1313T>A	3.37:g.183778109T>A	ENSP00000322617:p.Ile438Asn		Somatic					p.I438N	NM_130770.2	NP_570126.2	WXS	Illumina GAIIx	Phase_I	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1347	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		438					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1313T>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055816	0.76074	.	.	ENSG00000178084	ENST00000318351	D	0.81996	-1.56	4.35	3.2	0.36748	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.729498	0.12428	N	0.469766	D	0.84906	0.5576	L	0.55481	1.735	0.09310	N	1	D	0.56287	0.975	P	0.56216	0.794	T	0.73720	-0.3894	10	0.72032	D	0.01	-6.8455	7.939	0.29946	0.0:0.099:0.0:0.901	.	438	Q8WXA8	5HT3C_HUMAN	N	438	ENSP00000322617:I438N	ENSP00000322617:I438N	I	+	2	0	HTR3C	185260803	0.002000	0.14202	0.006000	0.13384	0.751000	0.42716	1.285000	0.33261	0.729000	0.32403	0.529000	0.55759	ATC		0.567	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		90	170	90	170	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76532380	76532380	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:76532380C>T	ENST00000429927.2	-	4	1232	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATACTTGACATCACCAACC	0.418																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(529-531)Gtc>Atc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							94.0	91.0	92.0					4																	76532380		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76532380C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.529G>A	4.37:g.76532380C>T	ENSP00000412365:p.Val177Ile		Somatic				CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	p.V177I	NM_003948.3	NP_003939.1	WXS	Illumina GAIIx	Phase_I	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	1232	-			177			Protein kinase.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.529G>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832933	0.32421	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.65178	-0.14;-0.14	4.72	2.06	0.26882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.39384	0.1076	N	0.11892	0.195	0.26435	N	0.975871	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22103	-1.0226	9	0.35671	T	0.21	-4.3391	5.8974	0.18947	0.0:0.5552:0.0:0.4448	.	177;177	B4DH08;Q92772	.;CDKL2_HUMAN	I	177	ENSP00000412365:V177I;ENSP00000306340:V177I	ENSP00000306340:V177I	V	-	1	0	CDKL2	76751404	0.817000	0.29147	0.993000	0.49108	0.965000	0.64279	1.015000	0.29963	0.717000	0.32145	0.639000	0.83563	GTC		0.418	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		41	54	41	54	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123091780	123091780	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:123091780G>A	ENST00000264501.4	+	0	351				KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame|KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCTTTAGATGTTGTTCTGGA	0.279																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172								KIAA1109							73.0	68.0	69.0					4																	123091780		1791	4057	5848			84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123091780G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.-23G>A	4.37:g.123091780G>A			Somatic				KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame|KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame				WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			0	351	+								Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Translation_Start_Site	SNP	ENST00000264501.4	37		CCDS43267.1																																																																																				0.279	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		10	7	10	7	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140242415	140242415	+	Intron	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:140242415C>T	ENST00000532602.1	+	1	3427				PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|AC005609.1_ENST00000502505.1_Silent_p.A187A|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA14_ENST00000562220.1_RNA	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						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(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGACGCGGGCATGC	0.637																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(559-561)gcG>gcA																																						SO:0001627	intron_variant	0							g.chr5:140242415C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+11941C>T	5.37:g.140242415C>T			Somatic				PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	p.A187A			WXS	Illumina GAIIx	Phase_I					1	809	-								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.561G>A	CCDS54920.1																																																																																				0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		8	33	8	33	---	---	---	---
TRIM31	11074	broad.mit.edu	37	6	30078314	30078314	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:30078314C>T	ENST00000376734.3	-	4	780	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'UTR	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	219				ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCAGTGGAGGCAACATAGTGT	0.522																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(655-657)Gcc>Acc		tripartite motif containing 31							216.0	193.0	200.0					6																	30078314		2203	4300	6503	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30078314C>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.655G>A	6.37:g.30078314C>T	ENSP00000365924:p.Ala219Thr		Somatic				TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T	p.A219T	NM_007028.3	NP_008959.3	WXS	Illumina GAIIx	Phase_I	Q9BZY9	TRI31_HUMAN			4	780	-			219	ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165).				A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.655G>A	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	C	0.360	-0.939804	0.02322	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.67171	-0.25;-0.25	3.39	-6.79	0.01715	.	.	.	.	.	T	0.13200	0.0320	N	0.11201	0.11	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.19031	-1.0318	9	0.05959	T	0.93	.	7.7691	0.28997	0.0:0.5129:0.2836:0.2035	.	219	Q9BZY9	TRI31_HUMAN	T	219	ENSP00000365924:A219T;ENSP00000444311:A219T	ENSP00000365918:A219T	A	-	1	0	TRIM31	30186293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.610000	0.00885	-1.634000	0.01537	-1.436000	0.01078	GCC		0.522	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			5	145	5	145	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75812377	75812377	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:75812377G>A	ENST00000322507.8	-	56	8660	c.8351C>T	c.(8350-8352)cCt>cTt	p.P2784L	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2784	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGGCCTGGAGGACCTATGTC	0.502																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8350-8352)cCt>cTt		collagen, type XII, alpha 1							52.0	52.0	52.0					6																	75812377		1829	4087	5916	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75812377G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8351C>T	6.37:g.75812377G>A	ENSP00000325146:p.Pro2784Leu		Somatic				COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L	p.P2784L	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			56	8660	-			2784			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8351C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101860	0.37048	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	5.29	5.29	0.74685	.	0.154579	0.43747	D	0.000534	D	0.94755	0.8307	L	0.28054	0.825	0.80722	D	1	B;B	0.18310	0.027;0.015	B;B	0.23419	0.024;0.046	D	0.92217	0.5781	10	0.27785	T	0.31	.	17.1248	0.86711	0.0:0.0:1.0:0.0	.	1620;2784	Q99715-2;Q99715	.;COCA1_HUMAN	L	2784;422;2708;1620;2708;2784	ENSP00000325146:P2784L;ENSP00000399812:P422L;ENSP00000305147:P1620L;ENSP00000412864:P2708L;ENSP00000421216:P2784L	ENSP00000325146:P2784L	P	-	2	0	COL12A1	75869097	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.654000	0.54453	2.466000	0.83321	0.591000	0.81541	CCT		0.502	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		13	8	13	8	---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328313	160328313	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:160328313C>T	ENST00000252660.4	+	1	340	c.326C>T	c.(325-327)tCa>tTa	p.S109L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	109					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTCACATTATCAGTGACTTTT	0.453																																						ENST00000252660.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(325-327)tCa>tTa		MAS1 oncogene							173.0	165.0	168.0					6																	160328313		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328313C>T	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.326C>T	6.37:g.160328313C>T	ENSP00000252660:p.Ser109Leu		Somatic					p.S109L	NM_002377.2	NP_002368.1	WXS	Illumina GAIIx	Phase_I	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	340	+		Breast(66;0.000776)|Ovarian(120;0.0303)	109					E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.326C>T	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640746	0.14386	.	.	ENSG00000130368	ENST00000252660	T	0.71698	-0.59	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.296299	0.24438	N	0.038525	T	0.29817	0.0745	N	0.10782	0.045	0.23607	N	0.997307	B	0.16396	0.017	B	0.22880	0.042	T	0.04178	-1.0971	10	0.10902	T	0.67	.	12.0855	0.53695	0.0:0.9216:0.0:0.0784	.	109	P04201	MAS_HUMAN	L	109	ENSP00000252660:S109L	ENSP00000252660:S109L	S	+	2	0	MAS1	160248303	0.809000	0.29036	0.003000	0.11579	0.478000	0.33099	2.413000	0.44618	2.665000	0.90641	0.655000	0.94253	TCA		0.453	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		34	88	34	88	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85097149	85097149	+	Intron	SNP	A	A	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:85097149A>T	ENST00000521268.1	+	1	1082				RALYL_ENST00000522455.1_Intron|RALYL_ENST00000517638.1_De_novo_Start_OutOfFrame|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000521695.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCTCCAGGCCACGCGAGCCGG	0.657																																						ENST00000517638.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24								RALY RNA binding protein-like							40.0	39.0	40.0					8																	85097149		692	1591	2283	SO:0001627	intron_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85097149A>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.-24+490A>T	8.37:g.85097149A>T			Somatic				RALYL_ENST00000521695.1_Intron|RALYL_ENST00000521268.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000518566.1_Intron		NM_001100391.1	NP_001093861.1	WXS	Illumina GAIIx	Phase_I	Q86SE5	RALYL_HUMAN			0	40	+								B3KTH2|G3V129|Q6ZW87|Q8N1C2	Translation_Start_Site	SNP	ENST00000521268.1	37		CCDS55253.1																																																																																				0.657	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			11	18	11	18	---	---	---	---
NTMT1	28989	broad.mit.edu	37	9	132397600	132397600	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr9:132397600G>T	ENST00000372486.1	+	4	878	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372481.3_3'UTR			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	177					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										CGTGATTCTGGACGACGTGGA	0.642																																						ENST00000372486.1																			0											c.(529-531)Gac>Tac		N-terminal Xaa-Pro-Lys N-methyltransferase 1							126.0	104.0	112.0					9																	132397600		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132397600G>T	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.529G>T	9.37:g.132397600G>T	ENSP00000361564:p.Asp177Tyr		Somatic				NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000372481.3_3'UTR	p.D177Y			WXS	Illumina GAIIx	Phase_I					4	878	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.529G>T	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705371	0.89018	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.42513	0.97;0.97;0.97	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83890	0.0284	10	0.87932	D	0	-34.6651	16.8907	0.86086	0.0:0.0:1.0:0.0	.	177	Q9BV86	NTM1A_HUMAN	Y	177	ENSP00000361564:D177Y;ENSP00000361561:D177Y;ENSP00000361558:D177Y	ENSP00000361558:D177Y	D	+	1	0	METTL11A	131437421	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.406000	0.97321	2.325000	0.78763	0.549000	0.68633	GAC		0.642	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		40	78	40	78	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129899951	129899951	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:129899951G>A	ENST00000368654.3	-	14	9651	c.9276C>T	c.(9274-9276)cgC>cgT	p.R3092R	MKI67_ENST00000368653.3_Silent_p.R2732R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3092					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCGTCTGGAGCGCAGGGATA	0.363																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9274-9276)cgC>cgT		marker of proliferation Ki-67							53.0	55.0	54.0					10																	129899951		2169	4282	6451	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899951G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9276C>T	10.37:g.129899951G>A			Somatic				MKI67_ENST00000368653.3_Silent_p.R2732R	p.R3092R	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			14	9651	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3092					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.9276C>T	CCDS7659.1																																																																																				0.363	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		3	30	3	30	---	---	---	---
FIBP	9158	broad.mit.edu	37	11	65652991	65652991	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:65652991G>A	ENST00000338369.2	-	5	768	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FIBP_ENST00000533045.1_Intron|FIBP_ENST00000357519.4_Intron|FIBP_ENST00000426652.2_5'Flank	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	219					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGGGTCAGTGGGGGCCTCACC	0.582											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338369.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(655-657)cCc>cTc		fibroblast growth factor (acidic) intracellular binding protein							99.0	105.0	103.0					11																	65652991		2201	4296	6497	SO:0001583	missense	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65652991G>A	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.656C>T	11.37:g.65652991G>A	ENSP00000344572:p.Pro219Leu		Somatic	OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_ENST00000357519.4_Intron|FIBP_ENST00000533045.1_Intron	p.P219L	NM_198897.1	NP_942600.1	WXS	Illumina GAIIx	Phase_I	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	5	768	-			219					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	c.656C>T	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596553	0.46318	.	.	ENSG00000172500	ENST00000338369	T	0.21191	2.02	4.9	4.9	0.64082	.	0.403365	0.23289	N	0.049802	T	0.13114	0.0318	N	0.08118	0	0.80722	D	1	B	0.20671	0.047	B	0.26094	0.066	T	0.09422	-1.0675	10	0.54805	T	0.06	-18.0363	13.445	0.61136	0.0:0.0:1.0:0.0	.	219	O43427	FIBP_HUMAN	L	219	ENSP00000344572:P219L	ENSP00000344572:P219L	P	-	2	0	FIBP	65409567	1.000000	0.71417	0.983000	0.44433	0.824000	0.46624	2.349000	0.44054	2.543000	0.85770	0.462000	0.41574	CCC		0.582	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		10	130	10	130	---	---	---	---
CARD18	59082	broad.mit.edu	37	11	105009575	105009575	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:105009575C>A	ENST00000530950.1	-	2	237	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y|CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	80	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						AGTTGAGGGTCTTCTTCACAG	0.408																																						ENST00000530950.1																			0				central_nervous_system(1)|ovary(1)	2						c.(238-240)Gac>Tac		caspase recruitment domain family, member 18							240.0	222.0	228.0					11																	105009575		1908	4119	6027	SO:0001583	missense	59082				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:105009575C>A	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.238G>T	11.37:g.105009575C>A	ENSP00000436691:p.Asp80Tyr		Somatic				CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y	p.D80Y	NM_021571.3	NP_067546.1	WXS	Illumina GAIIx	Phase_I	P57730	CAR18_HUMAN			2	237	-			80			CARD.		A2RRF8	Missense_Mutation	SNP	ENST00000530950.1	37	c.238G>T	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	12.41	1.929481	0.34096	.	.	ENSG00000255501	ENST00000530950;ENST00000526823;ENST00000532895	T;T;T	0.22945	1.93;1.93;1.93	2.3	2.3	0.28687	DEATH-like (2);Caspase Recruitment (3);	0.385269	0.28635	N	0.014650	T	0.43634	0.1256	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06917	-1.0800	9	0.87932	D	0	.	8.1859	0.31339	0.0:1.0:0.0:0.0	.	80	P57730	CAR18_HUMAN	Y	80;41;41	ENSP00000436691:D80Y;ENSP00000437035:D41Y;ENSP00000437187:D41Y	ENSP00000437035:D41Y	D	-	1	0	CARD18	104514785	0.083000	0.21467	0.052000	0.19188	0.046000	0.14306	1.476000	0.35420	1.572000	0.49736	0.558000	0.71614	GAC		0.408	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		24	179	24	179	---	---	---	---
EI24	9538	broad.mit.edu	37	11	125450015	125450015	+	Silent	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:125450015C>A	ENST00000278903.6	+	8	830	c.588C>A	c.(586-588)atC>atA	p.I196I	EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	196			I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:11753653}.		apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCTTTCCCATCCATCTTGTCG	0.423																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(586-588)atC>atA		etoposide induced 2.4							368.0	342.0	350.0					11																	125450015		1913	4129	6042	SO:0001819	synonymous_variant	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125450015C>A	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.588C>A	11.37:g.125450015C>A			Somatic				EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000532714.1_RNA	p.I196I	NM_004879.3	NP_004870.3	WXS	Illumina GAIIx	Phase_I	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	8	830	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	196		I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions).			A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	37	c.588C>A																																																																																					0.423	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		104	179	104	179	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48058097	48058097	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:48058097G>T	ENST00000316364.5	+	14	1898	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	487	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGACAAAAAGGTCATCTCATT	0.428																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1459-1461)Gtc>Ttc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							201.0	175.0	184.0					15																	48058097		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058097G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1459G>T	15.37:g.48058097G>T	ENSP00000324857:p.Val487Phe		Somatic				SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F	p.V487F	NM_153618.1	NP_705871.1	WXS	Illumina GAIIx	Phase_I	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1898	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	487			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1459G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766629	0.69878	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.68	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.114714	0.64402	D	0.000015	T	0.51278	0.1665	M	0.83384	2.64	0.80722	D	1	D;D;D;P;D	0.65815	0.995;0.991;0.995;0.834;0.995	D;P;D;P;D	0.63957	0.92;0.835;0.92;0.536;0.92	T	0.56926	-0.7898	10	0.87932	D	0	.	14.0577	0.64779	0.0721:0.0:0.9279:0.0	.	487;487;487;487;487	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	F	487	ENSP00000442040:V487F;ENSP00000446152:V487F;ENSP00000324857:V487F;ENSP00000374084:V487F;ENSP00000374083:V487F;ENSP00000346786:V487F;ENSP00000350770:V487F;ENSP00000374079:V487F;ENSP00000348276:V487F	ENSP00000324857:V487F	V	+	1	0	SEMA6D	45845389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.678000	0.61641	2.680000	0.91292	0.650000	0.86243	GTC		0.428	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		28	50	28	50	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61891049	61891049	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:61891049G>T	ENST00000577390.1	-	4	1595	c.641C>A	c.(640-642)cCt>cAt	p.P214H	CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGAAAAATAAGGCTGCCCTTC	0.403																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(640-642)cCt>cAt		cadherin 8, type 2							91.0	81.0	85.0					16																	61891049		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891049G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.641C>A	16.37:g.61891049G>T	ENSP00000462701:p.Pro214His		Somatic				CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H	p.P214H	NM_001796.4	NP_001787.2	WXS	Illumina GAIIx	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	1595	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	214			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.641C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634453	0.87660	.	.	ENSG00000150394	ENST00000299345	T	0.50001	0.76	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64483	-0.6397	10	0.59425	D	0.04	.	19.9535	0.97211	0.0:0.0:1.0:0.0	.	214	P55286	CADH8_HUMAN	H	214	ENSP00000299345:P214H	ENSP00000299345:P214H	P	-	2	0	CDH8	60448550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.308000	0.96247	2.710000	0.92621	0.557000	0.71058	CCT		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	43	8	43	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	11	6	11	6	---	---	---	---
SLC5A10	125206	broad.mit.edu	37	17	18863892	18863892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:18863892G>A	ENST00000395645.3	+	5	398	c.380G>A	c.(379-381)cGc>cAc	p.R127H	SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000317977.6_Missense_Mutation_p.R71H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	127					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATTCAGAAGCGCTACGGGGGC	0.607											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(211-213)cGc>cAc		solute carrier family 5 (sodium/sugar cotransporter), member 10							216.0	180.0	193.0					17																	18863892		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18863892G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.380G>A	17.37:g.18863892G>A	ENSP00000379007:p.Arg127His		Somatic	OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H	p.R71H	NM_001282417.1	NP_001269346.1	WXS	Illumina GAIIx	Phase_I	A0PJK1	SC5AA_HUMAN			5	783	+			127					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.212G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257711	0.95368	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.98028	-4.67;-3.93;-4.67;-3.93;-3.93;-4.43	4.96	4.96	0.65561	.	0.051915	0.85682	D	0.000000	D	0.99372	0.9779	H	0.99211	4.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.98225	1.0480	10	0.87932	D	0	.	17.8065	0.88602	0.0:0.0:1.0:0.0	.	127;127;127;127;71	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	H	71;127;71;127;127;127	ENSP00000324346:R71H;ENSP00000379008:R127H;ENSP00000379004:R71H;ENSP00000401875:R127H;ENSP00000379007:R127H;ENSP00000379005:R127H	ENSP00000324346:R71H	R	+	2	0	SLC5A10	18804617	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	8.955000	0.93058	2.308000	0.77769	0.561000	0.74099	CGC		0.607	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		10	248	10	248	---	---	---	---
AOC2	314	broad.mit.edu	37	17	41002342	41002342	+	Missense_Mutation	SNP	C	C	A	rs376029073		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41002342C>A	ENST00000253799.3	+	4	2275	c.2248C>A	c.(2248-2250)Cct>Act	p.P750T	AOC2_ENST00000452774.2_Missense_Mutation_p.P723T|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	750					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTTACCCCCTTTCTCTTA	0.557																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(2248-2250)Cct>Act		amine oxidase, copper containing 2 (retina-specific)							148.0	160.0	156.0					17																	41002342		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41002342C>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2248C>A	17.37:g.41002342C>A	ENSP00000253799:p.Pro750Thr		Somatic				AOC2_ENST00000452774.2_Missense_Mutation_p.P723T	p.P750T	NM_009590.2	NP_033720.2	WXS	Illumina GAIIx	Phase_I	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2275	+		Breast(137;0.000143)	750					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.2248C>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.895006	0.33442	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03689	3.84;3.84	4.97	1.81	0.25067	Copper amine oxidase, C-terminal (1);	0.550760	0.18429	N	0.141483	T	0.01940	0.0061	N	0.08118	0	0.31286	N	0.689954	B;B	0.09022	0.001;0.002	B;B	0.17433	0.008;0.018	T	0.30621	-0.9972	10	0.56958	D	0.05	3.0625	2.7623	0.05310	0.1492:0.546:0.1445:0.1603	.	750;723	O75106;O75106-2	AOC2_HUMAN;.	T	750;723	ENSP00000253799:P750T;ENSP00000406134:P723T	ENSP00000253799:P750T	P	+	1	0	AOC2	38255868	0.846000	0.29590	0.499000	0.27577	0.872000	0.50106	1.670000	0.37502	0.126000	0.18424	0.561000	0.74099	CCT		0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		5	255	5	255	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80046850	80046850	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:80046850G>T	ENST00000306749.2	-	14	2517	c.2299C>A	c.(2299-2301)Ctg>Atg	p.L767M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	767	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTACCTGCAGCAGGGCGTGG	0.697																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2299-2301)Ctg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						28.0	23.0	25.0					17																	80046850		2187	4291	6478	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046850G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2299C>A	17.37:g.80046850G>T	ENSP00000304592:p.Leu767Met		Somatic					p.L767M	NM_004104.4	NP_004095.4	WXS	Illumina GAIIx	Phase_I	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		14	2517	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		767			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2299C>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021131	0.54576	.	.	ENSG00000169710	ENST00000306749	T	0.55760	0.5	4.38	3.4	0.38934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.000000	0.56097	D	0.000021	T	0.71013	0.3290	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.71364	-0.4615	10	0.56958	D	0.05	-20.0757	7.4832	0.27417	0.2628:0.0:0.7372:0.0	.	767	P49327	FAS_HUMAN	M	767	ENSP00000304592:L767M	ENSP00000304592:L767M	L	-	1	2	FASN	77640139	0.995000	0.38212	1.000000	0.80357	0.881000	0.50899	1.757000	0.38400	0.835000	0.34877	0.462000	0.41574	CTG		0.697	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		7	9	7	9	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18625328	18625328	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:18625328T>C	ENST00000399799.2	-	5	1455	c.515A>G	c.(514-516)gAa>gGa	p.E172G		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCCCATTTTTCAGGCACATC	0.368																																						ENST00000399799.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(514-516)gAa>gGa		Rho-associated, coiled-coil containing protein kinase 1							123.0	113.0	116.0					18																	18625328		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18625328T>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.515A>G	18.37:g.18625328T>C	ENSP00000382697:p.Glu172Gly		Somatic					p.E172G	NM_005406.2	NP_005397.1	WXS	Illumina GAIIx	Phase_I	Q13464	ROCK1_HUMAN			5	1455	-	Melanoma(1;0.165)					Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.515A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467755	0.84533	.	.	ENSG00000067900	ENST00000399799	T	0.31510	1.49	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050824	0.85682	D	0.000000	T	0.60025	0.2237	M	0.89904	3.07	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	T	0.69401	-0.5155	10	0.66056	D	0.02	.	15.5304	0.75956	0.0:0.0:0.0:1.0	.	172	Q13464	ROCK1_HUMAN	G	172	ENSP00000382697:E172G	ENSP00000382697:E172G	E	-	2	0	ROCK1	16879326	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.008000	0.70739	2.246000	0.74042	0.533000	0.62120	GAA		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		8	5	8	5	---	---	---	---
PSG4	5672	broad.mit.edu	37	19	43708257	43708257	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:43708257G>T	ENST00000405312.3	-	2	448	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	71	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TATGTCATTTGCCCTTTGTAC	0.418																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(211-213)Caa>Aaa		pregnancy specific beta-1-glycoprotein 4							188.0	199.0	195.0					19																	43708257		2129	4269	6398	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43708257G>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.211C>A	19.37:g.43708257G>T	ENSP00000384770:p.Gln71Lys		Somatic				PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K	p.Q71K	NM_002780.3	NP_002771.2	WXS	Illumina GAIIx	Phase_I	Q00888	PSG4_HUMAN			2	448	-		Prostate(69;0.00682)	71			Ig-like V-type.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.211C>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	3.865	-0.029083	0.07589	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.01474	4.85;4.85;4.85;4.85	1.65	-3.31	0.04988	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01287	0.0042	N	0.25426	0.745	0.09310	N	1	B;B;B	0.14012	0.003;0.009;0.005	B;B;B	0.18871	0.023;0.02;0.014	T	0.46317	-0.9200	9	0.33940	T	0.23	.	3.1573	0.06509	0.0:0.2702:0.2395:0.4903	.	71;71;71	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	K	71;71;71;87	ENSP00000244295:Q71K;ENSP00000384770:Q71K;ENSP00000387864:Q71K;ENSP00000388134:Q87K	ENSP00000244295:Q71K	Q	-	1	0	PSG4	48400097	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.883000	0.04170	-0.867000	0.04063	0.173000	0.16961	CAA		0.418	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		73	144	73	144	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47971767	47971767	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr21:47971767C>T	ENST00000417564.2	+	25	3001	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C|DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000318711.7_Missense_Mutation_p.R995C			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	994					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGTGGCGTGCCCACAC	0.662																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2983-2985)Cgt>Tgt		DIP2 disco-interacting protein 2 homolog A (Drosophila)							36.0	39.0	38.0					21																	47971767		2190	4272	6462	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47971767C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2980C>T	21.37:g.47971767C>T	ENSP00000392066:p.Arg994Cys		Somatic				DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C	p.R995C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	WXS	Illumina GAIIx	Phase_I	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	25	3166	+	Breast(49;0.0933)		994					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2983C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111610	0.77210	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.34	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.65668	0.2713	M	0.83483	2.645	0.80722	D	1	D;D;P	0.89917	1.0;0.982;0.907	D;P;B	0.91635	0.999;0.853;0.339	T	0.69606	-0.5100	10	0.87932	D	0	-23.3513	12.8092	0.57629	0.427:0.573:0.0:0.0	.	995;930;994	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	C	990;930;995;994	ENSP00000383133:R990C;ENSP00000400528:R930C;ENSP00000323633:R995C;ENSP00000392066:R994C	ENSP00000323633:R995C	R	+	1	0	DIP2A	46796195	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.055000	0.41345	0.598000	0.29829	-0.169000	0.13324	CGT		0.662	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		5	25	5	25	---	---	---	---
DCAF8L2	347442	broad.mit.edu	37	X	27766321	27766321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:27766321C>A	ENST00000451261.2	+	5	1708	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	437										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGGCACAGAGCTGCTAGCCAG	0.428																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1309-1311)Ctg>Atg		DDB1 and CUL4 associated factor 8-like 2							152.0	103.0	118.0					X																	27766321		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766321C>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1309C>A	X.37:g.27766321C>A	ENSP00000462745:p.Leu437Met		Somatic					p.L437M	NM_001136533.1	NP_001130005.1	WXS	Illumina GAIIx	Phase_I					5	1708	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1309C>A	CCDS59162.1																																																																																				0.428	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		3	42	3	42	---	---	---	---
HSPA9	3313	broad.mit.edu	37	5	137892208	137892209	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:137892208_137892209delTT	ENST00000297185.3	-	16	2019_2020	c.1894_1895delAA	c.(1894-1896)aatfs	p.N632fs	HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000411005.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	632					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCTAATATTTTCTCCTGTT	0.401																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(1894-1896)aatfs		heat shock 70kDa protein 9 (mortalin)																																				SO:0001589	frameshift_variant	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137892208_137892209delTT	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1894_1895delAA	5.37:g.137892210_137892211delTT	ENSP00000297185:p.Asn632fs		Somatic				HSPA9_ENST00000501917.2_Intron	p.N632fs	NM_004134.6	NP_004125.3	WXS	Illumina GAIIx	Phase_I	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		16	2019_2020	-			632					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Frame_Shift_Del	DEL	ENST00000297185.3	37	c.1894_1895delAA	CCDS4208.1																																																																																				0.401	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		86	100	86	100	---	---	---	---
