#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
TGFBR3	7049	broad.mit.edu	37	1	92195471	92195471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:92195471C>T	ENST00000525962.1	-	5	689	c.628G>A	c.(628-630)Gct>Act	p.A210T	TGFBR3_ENST00000212355.4_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	210					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGTACTCAGCAAGGTAATTG	0.473																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(628-630)Gct>Act		transforming growth factor, beta receptor III							205.0	187.0	193.0					1																	92195471		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92195471C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.628G>A	1.37:g.92195471C>T	ENSP00000436127:p.Ala210Thr		Somatic				TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A210T	p.A210T	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	WXS	Illumina GAIIx	Phase_I	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	6	1093	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	210					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.628G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496195	0.96355	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.77	5.77	0.91146	.	0.045274	0.85682	D	0.000000	T	0.55305	0.1912	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.974	T	0.55685	-0.8102	10	0.66056	D	0.02	-17.8466	19.9792	0.97320	0.0:1.0:0.0:0.0	.	210;210	Q03167-2;Q03167	.;TGBR3_HUMAN	T	210	ENSP00000212355:A210T;ENSP00000359426:A210T;ENSP00000436127:A210T;ENSP00000432638:A210T	ENSP00000212355:A210T	A	-	1	0	TGFBR3	91968059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.776000	0.75023	2.727000	0.93392	0.591000	0.81541	GCT		0.473	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		53	101	53	101	---	---	---	---
HIST2H2AC	8338	broad.mit.edu	37	1	149858895	149858895	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:149858895A>G	ENST00000331380.2	+	1	371	c.371A>G	c.(370-372)cAc>cGc	p.H124R	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	124						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACCGAAAGCCACAAAGCCAAA	0.463																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(370-372)cAc>cGc		histone cluster 2, H2ac							72.0	76.0	74.0					1																	149858895		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858895A>G	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.371A>G	1.37:g.149858895A>G	ENSP00000332194:p.His124Arg		Somatic					p.H124R	NM_003517.2	NP_003508.1	WXS	Illumina GAIIx	Phase_I	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	371	+	Breast(34;0.0124)|all_hematologic(923;0.127)		124					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.371A>G	CCDS937.1	.	.	.	.	.	.	.	.	.	.	A	7.665	0.685825	0.14973	.	.	ENSG00000184260	ENST00000331380	T	0.46819	0.86	5.22	4.09	0.47781	Histone-fold (2);	0.000000	0.46758	D	0.000272	T	0.08179	0.0204	N	0.03608	-0.345	0.30676	N	0.752844	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.30854	T	0.27	.	6.1294	0.20197	0.7532:0.1627:0.0841:0.0	.	124	Q16777	H2A2C_HUMAN	R	124	ENSP00000332194:H124R	ENSP00000332194:H124R	H	+	2	0	HIST2H2AC	148125519	0.999000	0.42202	0.999000	0.59377	0.991000	0.79684	3.330000	0.52068	0.852000	0.35287	0.414000	0.27820	CAC		0.463	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	170	5	170	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78987846	78987846	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:78987846C>T	ENST00000464233.1	-	4	517	c.404G>A	c.(403-405)gGa>gAa	p.G135E	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E|ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000436010.2_Missense_Mutation_p.G96E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	135	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTTTCCGTCCATGTACTAT	0.473																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(286-288)gGa>gAa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							101.0	95.0	97.0					3																	78987846		1961	4164	6125	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78987846C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.404G>A	3.37:g.78987846C>T	ENSP00000420321:p.Gly135Glu		Somatic				ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G135E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E	p.G96E			WXS	Illumina GAIIx	Phase_I	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	1284	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	135			Ig-like C2-type 1.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.287G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922182	0.92319	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	N	0.26042	0.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.71020	-0.4713	9	.	.	.	.	19.4697	0.94958	0.0:1.0:0.0:0.0	.	135;96;96;96	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	E	96;96;135;96;96;135	ENSP00000406043:G96E;ENSP00000420321:G135E;ENSP00000420637:G96E;ENSP00000417992:G96E	.	G	-	2	0	ROBO1	79070536	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.792000	0.85828	2.611000	0.88343	0.462000	0.41574	GGA		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		19	26	19	26	---	---	---	---
LEF1	51176	broad.mit.edu	37	4	108999454	108999454	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:108999454C>T	ENST00000265165.1	-	8	1584	c.930G>A	c.(928-930)atG>atA	p.M310I	LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000379951.2_Missense_Mutation_p.M282I	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	310					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCATTTCTTTCATGTATAACA	0.433																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(844-846)atG>atA		lymphoid enhancer-binding factor 1							254.0	255.0	255.0					4																	108999454		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108999454C>T		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.930G>A	4.37:g.108999454C>T	ENSP00000265165:p.Met310Ile		Somatic				LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000265165.1_Missense_Mutation_p.M310I|LEF1_ENST00000503879.1_5'UTR	p.M282I	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	WXS	Illumina GAIIx	Phase_I	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	7	2034	-			310					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.846G>A	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449666	0.96205	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67	5.89	5.89	0.94794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	M	0.79693	2.465	0.80722	D	1	P;D;P;D;P	0.64830	0.705;0.969;0.656;0.994;0.933	P;D;P;D;D	0.81914	0.708;0.968;0.679;0.995;0.942	D	0.99589	1.0975	10	0.87932	D	0	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	214;167;282;282;310	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	I	310;282;282;214	ENSP00000265165:M310I;ENSP00000369284:M282I;ENSP00000406176:M282I;ENSP00000422840:M214I	ENSP00000265165:M310I	M	-	3	0	LEF1	109218903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.790000	0.95986	0.655000	0.94253	ATG		0.433	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			195	266	195	266	---	---	---	---
CAMK2D	817	broad.mit.edu	37	4	114469847	114469847	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:114469847C>A	ENST00000342666.5	-	6	379	c.380G>T	c.(379-381)tGt>tTt	p.C127F	CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000454265.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATTTAGGTGACAATGATTAAC	0.378																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(379-381)tGt>tTt		calcium/calmodulin-dependent protein kinase II delta							101.0	98.0	99.0					4																	114469847		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114469847C>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.380G>T	4.37:g.114469847C>A	ENSP00000339740:p.Cys127Phe		Somatic				CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000342666.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F	p.C127F			WXS	Illumina GAIIx	Phase_I	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	6	1238	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	127			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.380G>T	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894347	0.72639	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.995;0.991;0.996	T	0.53387	-0.8446	10	0.87932	D	0	.	19.4502	0.94863	0.0:1.0:0.0:0.0	.	127;127;127;127	Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;KCC2D_HUMAN	F	127	ENSP00000378032:C127F;ENSP00000415248:C127F;ENSP00000415707:C127F;ENSP00000406131:C127F;ENSP00000378034:C127F;ENSP00000296402:C127F;ENSP00000339740:C127F;ENSP00000423482:C127F;ENSP00000423677:C127F;ENSP00000378030:C127F;ENSP00000369098:C127F;ENSP00000422566:C127F	ENSP00000296402:C127F	C	-	2	0	CAMK2D	114689296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.688000	0.68227	2.608000	0.88229	0.650000	0.86243	TGT		0.378	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			28	39	28	39	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39377007	39377007	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:39377007G>A	ENST00000320816.6	-	12	2349	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	DAB2_ENST00000339788.6_Missense_Mutation_p.P410S|DAB2_ENST00000509337.1_Missense_Mutation_p.P607S|DAB2_ENST00000545653.1_Missense_Mutation_p.P607S	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	628	Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCTTGGGAGGGCCAGCTCTG	0.522											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000545653.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(1819-1821)Cct>Tct		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							77.0	91.0	86.0					5																	39377007		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39377007G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1882C>T	5.37:g.39377007G>A	ENSP00000313391:p.Pro628Ser		Somatic	OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_ENST00000320816.6_Missense_Mutation_p.P628S|DAB2_ENST00000339788.6_Missense_Mutation_p.P410S|DAB2_ENST00000509337.1_Missense_Mutation_p.P607S	p.P607S	NM_001244871.1	NP_001231800.1	WXS	Illumina GAIIx	Phase_I	P98082	DAB2_HUMAN	Epithelial(62;0.137)		11	2349	-	all_lung(31;0.000197)		628					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1819C>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474574	0.63737	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.39229	1.12;1.09;1.13;1.13	4.87	3.99	0.46301	.	0.159807	0.56097	D	0.000024	T	0.57007	0.2024	M	0.64170	1.965	0.28579	N	0.910215	P;D	0.55800	0.77;0.973	B;P	0.58660	0.285;0.843	T	0.58047	-0.7705	10	0.62326	D	0.03	-0.4183	15.1944	0.73075	0.0:0.1631:0.8369:0.0	.	628;607	P98082;P98082-3	DAB2_HUMAN;.	S	628;410;607;607	ENSP00000313391:P628S;ENSP00000345508:P410S;ENSP00000439919:P607S;ENSP00000426245:P607S	ENSP00000313391:P628S	P	-	1	0	DAB2	39412764	0.999000	0.42202	0.758000	0.31321	0.904000	0.53231	3.668000	0.54554	1.049000	0.40321	0.655000	0.94253	CCT		0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		7	182	7	182	---	---	---	---
YTHDC2	64848	broad.mit.edu	37	5	112889507	112889507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:112889507C>T	ENST00000161863.4	+	15	2221	c.2008C>T	c.(2008-2010)Caa>Taa	p.Q670*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	670	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACATCCGATCAAAAGAAAGT	0.303																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2008-2010)Caa>Taa		YTH domain containing 2							67.0	69.0	68.0					5																	112889507		2200	4299	6499	SO:0001587	stop_gained	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112889507C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2008C>T	5.37:g.112889507C>T	ENSP00000161863:p.Gln670*		Somatic				YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	p.Q670*	NM_022828.3	NP_073739.3	WXS	Illumina GAIIx	Phase_I	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	15	2221	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	670			Helicase C-terminal.		B2RP66	Nonsense_Mutation	SNP	ENST00000161863.4	37	c.2008C>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630563	0.98399	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	.	.	.	5.51	5.51	0.81932	.	0.058686	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3947	0.94603	0.0:1.0:0.0:0.0	.	.	.	.	X	670;670;580	.	ENSP00000161863:Q670X	Q	+	1	0	YTHDC2	112917406	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.937000	0.75898	2.572000	0.86782	0.650000	0.86243	CAA		0.303	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		19	26	19	26	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17777528	17777528	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:17777528T>C	ENST00000259711.6	-	34	4255	c.4150A>G	c.(4150-4152)Agt>Ggt	p.S1384G	KIF13A_ENST00000378814.5_Missense_Mutation_p.S1371G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1384					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGTGTACTGAGGCTCCTC	0.453																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4111-4113)Agt>Ggt		kinesin family member 13A							73.0	78.0	76.0					6																	17777528		1953	4150	6103	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17777528T>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4150A>G	6.37:g.17777528T>C	ENSP00000259711:p.Ser1384Gly		Somatic				KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G	p.S1371G	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		33	4110	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1384					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4111A>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896442	0.91962	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.74421	-0.82;1.56;-0.84;-0.81;-0.82;-0.81	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	M	0.82517	2.595	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.992	D;D;D;D	0.77557	0.954;0.99;0.979;0.984	D	0.87056	0.2150	10	0.66056	D	0.02	.	16.0773	0.80976	0.0:0.0:0.0:1.0	.	1371;1384;1384;1371	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	G	1371;388;1384;1384;1371;1384	ENSP00000368091:S1371G;ENSP00000425616:S388G;ENSP00000259711:S1384G;ENSP00000368103:S1384G;ENSP00000368120:S1371G;ENSP00000368093:S1384G	ENSP00000259711:S1384G	S	-	1	0	KIF13A	17885507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.254000	0.74563	0.482000	0.46254	AGT		0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			9	17	9	17	---	---	---	---
DEF6	50619	broad.mit.edu	37	6	35285708	35285708	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:35285708T>G	ENST00000316637.5	+	6	853	c.848T>G	c.(847-849)gTg>gGg	p.V283G	DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.V28G	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	283	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGTTCTGTGTGAAGACAGCC	0.657																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(847-849)gTg>gGg		differentially expressed in FDCP 6 homolog (mouse)							53.0	48.0	50.0					6																	35285708		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35285708T>G	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.848T>G	6.37:g.35285708T>G	ENSP00000319831:p.Val283Gly		Somatic				DEF6_ENST00000542066.1_Missense_Mutation_p.V28G|DEF6_ENST00000468102.1_3'UTR	p.V283G	NM_022047.3	NP_071330.3	WXS	Illumina GAIIx	Phase_I	Q9H4E7	DEFI6_HUMAN			6	853	+			283			PH.		Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.848T>G	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	T	33	5.280348	0.95489	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.36340	1.26;2.31	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.068949	0.64402	D	0.000015	T	0.62122	0.2402	M	0.94063	3.49	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.93;0.969;0.969	T	0.74112	-0.3770	10	0.87932	D	0	-37.4619	13.9142	0.63887	0.0:0.0:0.0:1.0	.	28;283;283	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	G	28;283	ENSP00000442166:V28G;ENSP00000319831:V283G	ENSP00000319831:V283G	V	+	2	0	DEF6	35393686	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	2.035000	0.60131	0.377000	0.23210	GTG		0.657	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		20	26	20	26	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38906615	38906615	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:38906615T>C	ENST00000359357.3	+	77	11461	c.11207T>C	c.(11206-11208)aTt>aCt	p.I3736T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3736					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACAAATATTATCGAGTAC	0.328																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11206-11208)aTt>aCt		dynein, axonemal, heavy chain 8							81.0	78.0	79.0					6																	38906615		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38906615T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11207T>C	6.37:g.38906615T>C	ENSP00000352312:p.Ile3736Thr		Somatic				RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T	p.I3736T			WXS	Illumina GAIIx	Phase_I					77	11461	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11207T>C		.	.	.	.	.	.	.	.	.	.	T	22.5	4.298758	0.81025	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60040	0.22;0.22;0.22	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	H	0.98629	4.285	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.74674	0.984;0.964	D	0.90015	0.4124	10	0.87932	D	0	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	3700;3736	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	T	3941;3941;3736;3700	ENSP00000333363:I3941T;ENSP00000352312:I3736T;ENSP00000402294:I3700T	ENSP00000333363:I3941T	I	+	2	0	DNAH8	39014593	1.000000	0.71417	0.959000	0.39883	0.848000	0.48234	7.997000	0.88414	2.271000	0.75665	0.533000	0.62120	ATT		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	33	24	33	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138611047	138611047	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:138611047C>G	ENST00000251691.4	+	18	3155	c.2989C>G	c.(2989-2991)Ctc>Gtc	p.L997V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGGCCATCCTCAGCGTAGG	0.602																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2989-2991)Ctc>Gtc		KIAA1244							85.0	71.0	76.0					6																	138611047		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138611047C>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2989C>G	6.37:g.138611047C>G	ENSP00000251691:p.Leu997Val		Somatic					p.L997V	NM_020340.4	NP_065073.3	WXS	Illumina GAIIx	Phase_I	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	18	3155	+	Breast(32;0.135)		997						Missense_Mutation	SNP	ENST00000251691.4	37	c.2989C>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354630	0.82243	.	.	ENSG00000112379	ENST00000251691	T	0.36340	1.26	5.74	5.74	0.90152	.	0.459711	0.23738	N	0.045048	T	0.56978	0.2022	M	0.73962	2.25	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	T	0.59354	-0.7470	10	0.72032	D	0.01	-5.8944	19.9295	0.97114	0.0:1.0:0.0:0.0	.	997	Q5TH69	BIG3_HUMAN	V	997	ENSP00000251691:L997V	ENSP00000251691:L997V	L	+	1	0	KIAA1244	138652740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.066000	0.71185	2.695000	0.91970	0.655000	0.94253	CTC		0.602	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		39	59	39	59	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144837472	144837472	+	Silent	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:144837472T>C	ENST00000367545.3	+	37	5352	c.5352T>C	c.(5350-5352)aaT>aaC	p.N1784N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1784					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACATAGAAAATATGTTAAAAT	0.353																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5350-5352)aaT>aaC		utrophin							60.0	65.0	63.0					6																	144837472		2203	4298	6501	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144837472T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5352T>C	6.37:g.144837472T>C			Somatic					p.N1784N	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	37	5352	+		Ovarian(120;0.218)	1784					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.5352T>C	CCDS34547.1																																																																																				0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			45	63	45	63	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93004008	93004008	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:93004008A>G	ENST00000523629.1	-	7	1304	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	284					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTGGGCTGGTAGGATAAGCCG	0.532																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(850-852)Tac>Cac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							208.0	168.0	182.0					8																	93004008		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93004008A>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.850T>C	8.37:g.93004008A>G	ENSP00000428543:p.Tyr284His		Somatic				RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H	p.Y284H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	WXS	Illumina GAIIx	Phase_I	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1304	-			284					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.850T>C	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.389910	0.42410	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.30981	1.52;1.53;1.52;1.53;1.53;1.53;1.51;1.53	6.17	6.17	0.99709	.	0.052601	0.85682	D	0.000000	T	0.14356	0.0347	N	0.02315	-0.6	0.58432	D	0.999999	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.21008	-1.0258	10	0.14656	T	0.56	-18.7768	16.4837	0.84171	1.0:0.0:0.0:0.0	.	295;284;257	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	H	284;257;284;247;247;247;295;257	ENSP00000428543:Y284H;ENSP00000379520:Y257H;ENSP00000265814:Y284H;ENSP00000353504:Y247H;ENSP00000390137:Y247H;ENSP00000428742:Y247H;ENSP00000402257:Y295H;ENSP00000430728:Y257H	ENSP00000265814:Y284H	Y	-	1	0	RUNX1T1	93073184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TAC		0.532	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		41	82	41	82	---	---	---	---
SPATA31D5P	347127	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	byFrequency	TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TTTTCTGATATTGACCATGAC	0.458																																						ENST00000527857.1																			0																																																			347127							g.chr9:84533044T>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533044T>C			Somatic						NR_026851.1		WXS	Illumina GAIIx	Phase_I					0	3066	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.458	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	50	4	50	---	---	---	---
SEPHS1	22929	broad.mit.edu	37	10	13371763	13371763	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr10:13371763C>T	ENST00000327347.5	-	6	961	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M|SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	196					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGCACCAGCACGTCCCCTGGC	0.517																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(586-588)Gtg>Atg		selenophosphate synthetase 1							59.0	46.0	51.0					10																	13371763		2203	4300	6503	SO:0001583	missense	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13371763C>T	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.586G>A	10.37:g.13371763C>T	ENSP00000367893:p.Val196Met		Somatic				SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M|SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M	p.V196M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	WXS	Illumina GAIIx	Phase_I	P49903	SPS1_HUMAN			6	961	-			196					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	c.586G>A	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011552	0.75046	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000537130	T;T;T;T	0.48201	1.89;0.82;1.89;1.89	5.37	5.37	0.77165	AIR synthase-related protein, C-terminal (2);	0.055633	0.64402	D	0.000001	T	0.66107	0.2756	M	0.90542	3.125	0.80722	D	1	P;P;P;D;P;P	0.56746	0.949;0.803;0.939;0.977;0.939;0.939	P;B;P;P;P;P	0.48627	0.584;0.087;0.584;0.572;0.584;0.584	T	0.76094	-0.3085	10	0.72032	D	0.01	-19.0567	19.1025	0.93279	0.0:1.0:0.0:0.0	.	148;196;196;196;196;129	B4DLS1;Q5T5U9;P49903;D6PSQ9;D3DRS9;B4DWK0	.;.;SPS1_HUMAN;.;.;.	M	196;196;196;196;129	ENSP00000367893:V196M;ENSP00000367877:V196M;ENSP00000441119:V196M;ENSP00000442768:V129M	ENSP00000367887:V196M	V	-	1	0	SEPHS1	13411769	1.000000	0.71417	0.920000	0.36463	0.452000	0.32318	7.805000	0.86005	2.507000	0.84556	0.561000	0.74099	GTG		0.517	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		8	15	8	15	---	---	---	---
C1S	716	broad.mit.edu	37	12	7172584	7172584	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:7172584A>G	ENST00000406697.1	+	9	1326	c.698A>G	c.(697-699)aAc>aGc	p.N233S	C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S			P09871	C1S_HUMAN	complement component 1, s subcomponent	233	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCAGCGGGAAACTGCCTTGAC	0.453																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(697-699)aAc>aGc		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						116.0	116.0	116.0					12																	7172584		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172584A>G		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.698A>G	12.37:g.7172584A>G	ENSP00000385035:p.Asn233Ser		Somatic				C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S	p.N233S			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			9	1326	+			233			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.698A>G	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	7.706	0.694080	0.15039	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	6.09	2.39	0.29439	CUB (5);	0.681931	0.12792	N	0.438755	T	0.13114	0.0318	N	0.25201	0.72	0.23747	N	0.996955	B	0.13145	0.007	B	0.19666	0.026	T	0.30060	-0.9991	10	0.38643	T	0.18	.	5.4474	0.16544	0.5494:0.2506:0.2:0.0	.	233	P09871	C1S_HUMAN	S	233;233;233;66;66	ENSP00000385035:N233S;ENSP00000328173:N233S;ENSP00000354057:N233S;ENSP00000384171:N66S;ENSP00000442298:N66S	ENSP00000328173:N233S	N	+	2	0	C1S	7042845	0.506000	0.26139	0.952000	0.39060	0.608000	0.37181	0.263000	0.18478	0.163000	0.19507	0.533000	0.62120	AAC		0.453	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		45	88	45	88	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118472080	118472080	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:118472080C>G	ENST00000315436.3	-	9	1277	c.1136G>C	c.(1135-1137)aGt>aCt	p.S379T	WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T|WSB2_ENST00000536738.1_5'Flank|WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000542304.1_Missense_Mutation_p.S154T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	379	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTAGGAAACTTCGAAGGGC	0.458																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1135-1137)aGt>aCt		WD repeat and SOCS box containing 2							222.0	195.0	204.0					12																	118472080		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118472080C>G	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.1136G>C	12.37:g.118472080C>G	ENSP00000319474:p.Ser379Thr		Somatic				WSB2_ENST00000542304.1_Missense_Mutation_p.S154T|WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T	p.S379T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	WXS	Illumina GAIIx	Phase_I	Q9NYS7	WSB2_HUMAN			9	1277	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		379			SOCS box.		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.1136G>C	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	9.791	1.177817	0.21787	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.9	5.9	0.94986	SOCS protein, C-terminal (4);	0.216467	0.56097	D	0.000027	T	0.33962	0.0881	N	0.20685	0.6	0.25989	N	0.982271	B	0.13145	0.007	B	0.11329	0.006	T	0.09271	-1.0682	10	0.17369	T	0.5	-9.472	16.4345	0.83871	0.0:0.8687:0.1313:0.0	.	379	Q9NYS7	WSB2_HUMAN	T	379;154;396;169;381	ENSP00000319474:S379T;ENSP00000445941:S154T;ENSP00000409131:S396T;ENSP00000444431:S169T;ENSP00000439450:S381T	ENSP00000319474:S379T	S	-	2	0	WSB2	116956463	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.336000	0.43938	2.788000	0.95919	0.650000	0.86243	AGT		0.458	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		91	165	91	165	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38237623	38237623	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:38237623A>G	ENST00000379705.3	-	6	2475	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	540					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTTCATAATAGAAGTACAAT	0.348																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1618-1620)Tat>Cat		transient receptor potential cation channel, subfamily C, member 4							77.0	74.0	75.0					13																	38237623		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237623A>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1618T>C	13.37:g.38237623A>G	ENSP00000369027:p.Tyr540His		Somatic				TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H	p.Y540H			WXS	Illumina GAIIx	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	2475	-			540					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1618T>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574809	0.86542	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.71920	2.185	0.80722	D	1	D;D;D;D;D;D	0.76494	0.991;0.991;0.999;0.997;0.984;0.958	P;D;D;D;P;D	0.83275	0.847;0.945;0.996;0.974;0.891;0.936	D	0.99872	1.1098	10	0.72032	D	0.01	-21.0646	16.6438	0.85155	1.0:0.0:0.0:0.0	.	540;540;540;367;540;540	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	540;540;367;367;540;540;540;540	ENSP00000369027:Y540H;ENSP00000369003:Y540H;ENSP00000342580:Y367H;ENSP00000369001:Y367H;ENSP00000348025:Y540H;ENSP00000351264:Y540H;ENSP00000368995:Y540H;ENSP00000414316:Y540H	ENSP00000342580:Y367H	Y	-	1	0	TRPC4	37135623	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	TAT		0.348	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		3	74	3	74	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101797243	101797243	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:101797243T>G	ENST00000251127.6	-	16	1925	c.1844A>C	c.(1843-1845)aAg>aCg	p.K615T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	615					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCACTTTGCTTTAACTAAAG	0.328																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1843-1845)aAg>aCg		sodium leak channel, non-selective							118.0	131.0	126.0					13																	101797243		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101797243T>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1844A>C	13.37:g.101797243T>G	ENSP00000251127:p.Lys615Thr		Somatic					p.K615T	NM_052867.2	NP_443099.1	WXS	Illumina GAIIx	Phase_I	Q8IZF0	NALCN_HUMAN			16	1925	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		615					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1844A>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699849	0.88924	.	.	ENSG00000102452	ENST00000251127	D	0.98313	-4.86	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	L	0.46819	1.47	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.99226	1.0880	10	0.48119	T	0.1	.	16.2453	0.82441	0.0:0.0:0.0:1.0	.	615	Q8IZF0	NALCN_HUMAN	T	615	ENSP00000251127:K615T	ENSP00000251127:K615T	K	-	2	0	NALCN	100595244	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.606000	0.82863	2.241000	0.73720	0.533000	0.62120	AAG		0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	250	8	250	---	---	---	---
EDDM3A	10876	broad.mit.edu	37	14	21215868	21215868	+	Silent	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr14:21215868A>G	ENST00000326842.2	+	2	256	c.129A>G	c.(127-129)cgA>cgG	p.R43R		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	43					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCCAAGTCGAGAATTCAAAG	0.378																																						ENST00000326842.2																			0				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(127-129)cgA>cgG		epididymal protein 3A							100.0	100.0	100.0					14																	21215868		2203	4300	6503	SO:0001819	synonymous_variant	10876				sperm displacement	extracellular space		g.chr14:21215868A>G	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.129A>G	14.37:g.21215868A>G			Somatic					p.R43R	NM_006683.4	NP_006674.2	WXS	Illumina GAIIx	Phase_I	Q14507	EP3A_HUMAN			2	256	+			43					Q4KN33	Silent	SNP	ENST00000326842.2	37	c.129A>G	CCDS9556.1																																																																																				0.378	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			44	87	44	87	---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55651764	55651764	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:55651764T>C	ENST00000310958.6	-	8	2505	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	736					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGAAAAAGTGTGACCAAAGAA	0.328																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(2206-2208)cAc>cGc		cell cycle progression 1							64.0	64.0	64.0					15																	55651764		1820	4062	5882	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55651764T>C	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2207A>G	15.37:g.55651764T>C	ENSP00000311656:p.His736Arg		Somatic				DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R	p.H736R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	WXS	Illumina GAIIx	Phase_I	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2505	-			736					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.2207A>G	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641382	0.29157	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.29655	3.89;3.89;1.56	5.83	3.42	0.39159	.	0.459942	0.27206	N	0.020427	T	0.22666	0.0547	L	0.36672	1.1	0.09310	N	1	P;B;P;P	0.41265	0.744;0.184;0.744;0.744	B;B;B;B	0.38327	0.271;0.037;0.271;0.271	T	0.07809	-1.0753	10	0.54805	T	0.06	.	8.4515	0.32873	0.1304:0.0:0.1368:0.7328	.	736;353;736;592	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	R	736;736;353	ENSP00000311656:H736R;ENSP00000403400:H736R;ENSP00000415128:H353R	ENSP00000311656:H736R	H	-	2	0	DYX1C1	53439056	1.000000	0.71417	0.122000	0.21767	0.988000	0.76386	3.360000	0.52299	0.422000	0.26005	0.528000	0.53228	CAC		0.328	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		23	3	23	3	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425259	74425259	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:74425259C>T	ENST00000361742.3	+	4	933	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	55					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T55M(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AACGTGACGACGCTTAGTCTG	0.637																																						ENST00000361742.3																			1	Substitution - Missense(1)	p.T55M(1)	endometrium(1)	breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(163-165)aCg>aTg		immunoglobulin superfamily containing leucine-rich repeat 2							81.0	68.0	72.0					15																	74425259		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425259C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.164C>T	15.37:g.74425259C>T	ENSP00000355402:p.Thr55Met		Somatic				ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M	p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	WXS	Illumina GAIIx	Phase_I	Q6UXK2	ISLR2_HUMAN			4	933	+			55					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.164C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146357	0.57044	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.66	4.66	0.58398	Leucine-rich repeat-containing N-terminal (1);	0.063133	0.64402	D	0.000008	T	0.55433	0.1920	L	0.48218	1.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.57081	-0.7872	10	0.62326	D	0.03	.	11.5872	0.50925	0.0:0.9049:0.0:0.0951	.	55	Q6UXK2	ISLR2_HUMAN	M	55	ENSP00000403244:T55M;ENSP00000355402:T55M;ENSP00000411443:T55M;ENSP00000411834:T55M;ENSP00000408872:T55M	ENSP00000355402:T55M	T	+	2	0	ISLR2	72212312	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	5.950000	0.70265	2.151000	0.67156	0.407000	0.27541	ACG		0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		70	80	70	80	---	---	---	---
CHRNB4	1143	broad.mit.edu	37	15	78921727	78921727	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:78921727G>A	ENST00000261751.3	-	5	1031	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	307					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GATGGAGAAGGTGACCAGCAC	0.587																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(919-921)aCc>aTc		cholinergic receptor, nicotinic, beta 4 (neuronal)							153.0	122.0	133.0					15																	78921727		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921727G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.920C>T	15.37:g.78921727G>A	ENSP00000261751:p.Thr307Ile		Somatic				CHRNB4_ENST00000412074.2_Intron	p.T307I	NM_000750.3	NP_000741.1	WXS	Illumina GAIIx	Phase_I	P30926	ACHB4_HUMAN			5	1031	-			307					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.920C>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850990	0.91277	.	.	ENSG00000117971	ENST00000261751	T	0.71461	-0.57	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87593	0.2492	10	0.87932	D	0	.	19.53	0.95225	0.0:0.0:1.0:0.0	.	307	P30926	ACHB4_HUMAN	I	307	ENSP00000261751:T307I	ENSP00000261751:T307I	T	-	2	0	CHRNB4	76708782	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.800000	0.99124	2.637000	0.89404	0.655000	0.94253	ACC		0.587	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			37	55	37	55	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57738847	57738847	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:57738847C>T	ENST00000360716.3	+	7	980	c.759C>T	c.(757-759)gaC>gaT	p.D253D	CCDC135_ENST00000394337.4_Silent_p.D253D|CCDC135_ENST00000336825.8_Silent_p.D188D			Q8IY82	CC135_HUMAN		253					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCCCAGGGACCTGTGCAGCA	0.562																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(757-759)gaC>gaT		coiled-coil domain containing 135							96.0	90.0	92.0					16																	57738847		2198	4300	6498	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57738847C>T																												ENST00000360716.3:c.759C>T	16.37:g.57738847C>T			Somatic				CCDC135_ENST00000336825.8_Silent_p.D188D|CCDC135_ENST00000394337.4_Silent_p.D253D	p.D253D			WXS	Illumina GAIIx	Phase_I	Q8IY82	CC135_HUMAN			7	980	+			253					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.759C>T	CCDS10787.1																																																																																				0.562	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			28	63	28	63	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3959636	3959636	+	Silent	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:3959636T>C	ENST00000381638.2	-	33	5293	c.5169A>G	c.(5167-5169)caA>caG	p.Q1723Q	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1723							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTCACTCCATTGGCTGAAAG	0.443																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(5167-5169)caA>caG		zinc finger, ZZ-type with EF-hand domain 1							79.0	73.0	75.0					17																	3959636		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3959636T>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5169A>G	17.37:g.3959636T>C			Somatic					p.Q1723Q	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			33	5293	-			1723					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.5169A>G	CCDS11043.1																																																																																				0.443	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		31	48	31	48	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37681027	37681027	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:37681027T>C	ENST00000447079.4	+	12	3229	c.3196T>C	c.(3196-3198)Tct>Cct	p.S1066P	CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1066					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATCCAAAACTTCTCGAAAAGA	0.557			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3196-3198)Tct>Cct		cyclin-dependent kinase 12							117.0	117.0	117.0					17																	37681027		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37681027T>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3196T>C	17.37:g.37681027T>C	ENSP00000398880:p.Ser1066Pro	TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			12	3229	+			1066					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3196T>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	5.316	0.243741	0.10077	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.66995	-0.23;-0.24	4.98	2.76	0.32466	.	0.000000	0.42821	D	0.000641	T	0.32346	0.0826	N	0.02751	-0.505	0.39962	D	0.974672	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.29731	-1.0002	10	0.02654	T	1	-1.499	6.9199	0.24383	0.0:0.2884:0.0:0.7116	.	1065;1066;1066	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	P	1066	ENSP00000407720:S1066P;ENSP00000398880:S1066P	ENSP00000407720:S1066P	S	+	1	0	CDK12	34934553	0.842000	0.29525	0.985000	0.45067	0.979000	0.70002	0.783000	0.26802	0.395000	0.25257	0.460000	0.39030	TCT		0.557	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		71	135	71	135	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	rs193920894		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:47696643A>C	ENST00000393328.2	-	5	670	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393331.3_Missense_Mutation_p.F102C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tGc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>G	17.37:g.47696643A>C	ENSP00000377001:p.Phe102Cys	Prostate(2;0.17)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374920	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84153	0.0424	10	0.56958	D	0.05	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	C	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102C;ENSP00000377004:F102C;ENSP00000240327:F102C;ENSP00000425905:F102C;ENSP00000420908:F102C;ENSP00000426986:F102C;ENSP00000420960:F102C;ENSP00000426262:F102C;ENSP00000424119:F102C;ENSP00000426537:F102C	ENSP00000240327:F102C	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		53	58	53	58	---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43685267	43685267	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:43685267C>T	ENST00000282058.6	+	2	218	c.138C>T	c.(136-138)gtC>gtT	p.V46V	ATP5A1_ENST00000282050.2_5'Flank|HAUS1_ENST00000585518.1_Silent_p.V46V	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCAACAGGGTCCGGGACAGGG	0.433																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(136-138)gtC>gtT		HAUS augmin-like complex, subunit 1							69.0	64.0	65.0					18																	43685267		2203	4300	6503	SO:0001819	synonymous_variant	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43685267C>T	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.138C>T	18.37:g.43685267C>T			Somatic				HAUS1_ENST00000585518.1_Silent_p.V46V	p.V46V	NM_138443.3	NP_612452.1	WXS	Illumina GAIIx	Phase_I	Q96CS2	HAUS1_HUMAN			2	218	+			46					B2RDM7|Q8N837	Silent	SNP	ENST00000282058.6	37	c.138C>T	CCDS11928.1																																																																																				0.433	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		23	13	23	13	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591888G>T	ENST00000342988.3	+	9	1589	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		D -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTACTGTTGATGGATACGT	0.438																																						ENST00000342988.3																			48	Whole gene deletion(36)|Substitution - Missense(9)|Unknown(2)|Complex - compound substitution(1)	p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)	pancreas(28)|large_intestine(7)|lung(3)|breast(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1051-1053)Gat>Tat		SMAD family member 4							238.0	200.0	213.0					18																	48591888		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591888G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1051G>T	18.37:g.48591888G>T	ENSP00000341551:p.Asp351Tyr		Somatic				SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y	p.D351Y	NM_005359.5	NP_005350.1	WXS	Illumina GAIIx	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1589	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	351		D -> N (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1051G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043643	0.93685	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98493	-4.96;-4.96	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044633	0.85682	D	0.000000	D	0.99306	0.9757	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99023	1.0818	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	351	Q13485	SMAD4_HUMAN	Y	351	ENSP00000341551:D351Y;ENSP00000381452:D351Y	ENSP00000341551:D351Y	D	+	1	0	SMAD4	46845886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	GAT		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		4	62	4	62	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48591901	48591901	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591901A>T	ENST00000342988.3	+	9	1602	c.1064A>T	c.(1063-1065)gAc>gTc	p.D355V	SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V|SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428																																						ENST00000342988.3																			41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1063-1065)gAc>gTc		SMAD family member 4							216.0	180.0	192.0					18																	48591901		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591901A>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1064A>T	18.37:g.48591901A>T	ENSP00000341551:p.Asp355Val		Somatic				SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V	p.D355V	NM_005359.5	NP_005350.1	WXS	Illumina GAIIx	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1602	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	355			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1064A>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887993	0.91814	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98135	-4.74;-4.74	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99433	1.0936	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	355	Q13485	SMAD4_HUMAN	V	355	ENSP00000341551:D355V;ENSP00000381452:D355V	ENSP00000341551:D355V	D	+	2	0	SMAD4	46845899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAC		0.428	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		37	25	37	25	---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45207372	45207372	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:45207372C>G	ENST00000405314.2	+	3	564	c.467C>G	c.(466-468)cCc>cGc	p.P156R	CEACAM16_ENST00000587331.1_Missense_Mutation_p.P156R|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	156	Ig-like C2-type 1.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGCAGCAGCCCCAGCCCCACC	0.687																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(466-468)cCc>cGc		carcinoembryonic antigen-related cell adhesion molecule 16							13.0	17.0	16.0					19																	45207372		1990	4142	6132	SO:0001583	missense	388551							g.chr19:45207372C>G		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.467C>G	19.37:g.45207372C>G	ENSP00000385576:p.Pro156Arg		Somatic				CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.P156R	p.P156R	NM_001039213.2	NP_001034302.2	WXS	Illumina GAIIx	Phase_I	A7LI12	A7LI12_HUMAN			4	682	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	156					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.467C>G	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120461	0.37436	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.13307	2.6	5.64	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31636	U	0.007306	T	0.19446	0.0467	L	0.41415	1.275	0.33057	D	0.533591	P	0.52692	0.955	P	0.54759	0.76	T	0.15780	-1.0425	10	0.30078	T	0.28	-32.5528	10.5959	0.45338	0.0:0.9112:0.0:0.0888	.	215	Q2WEN9	CEA16_HUMAN	R	221;156	ENSP00000385576:P156R	ENSP00000379974:P221R	P	+	2	0	CEACAM16	49899212	0.990000	0.36364	0.985000	0.45067	0.066000	0.16364	2.446000	0.44908	1.520000	0.48965	0.561000	0.74099	CCC		0.687	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		7	16	7	16	---	---	---	---
VASP	7408	broad.mit.edu	37	19	46032604	46032604	+	IGR	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:46032604C>A	ENST00000245932.6	+	0	2305				OPA3_ENST00000323060.3_Missense_Mutation_p.G85C	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		ATGCCCTCGCCCAGCAGCTCC	0.627																																						ENST00000323060.3																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(253-255)Ggc>Tgc		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							67.0	70.0	69.0					19																	46032604		2202	4300	6502	SO:0001628	intergenic_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46032604C>A		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552			19.37:g.46032604C>A			Somatic					p.G85C	NM_001017989.2	NP_001017989.2	WXS	Illumina GAIIx	Phase_I	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	330	-		Ovarian(192;0.051)|all_neural(266;0.112)	85					B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	c.253G>T	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572999	0.65765	.	.	ENSG00000125741	ENST00000323060	D	0.89617	-2.54	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94428	0.7647	9	0.72032	D	0.01	-22.5116	13.2344	0.59961	0.0:1.0:0.0:0.0	.	85	Q9H6K4-2	.	C	85	ENSP00000319817:G85C	ENSP00000319817:G85C	G	-	1	0	OPA3	50724444	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	6.718000	0.74713	2.047000	0.60756	0.561000	0.74099	GGC		0.627	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			111	118	111	118	---	---	---	---
KLK3	354	broad.mit.edu	37	19	51359573	51359573	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:51359573G>C	ENST00000326003.2	+	2	165	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000360617.3_Missense_Mutation_p.V42L|KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	42	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGTGCTTGTGGCCTCTCG	0.642																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(124-126)Gtg>Ctg		kallikrein-related peptidase 3							118.0	111.0	113.0					19																	51359573		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51359573G>C	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.124G>C	19.37:g.51359573G>C	ENSP00000314151:p.Val42Leu		Somatic				KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000326003.2_Missense_Mutation_p.V42L|KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L	p.V42L			WXS	Illumina GAIIx	Phase_I	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	2	124	+		all_neural(266;0.057)	42			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.124G>C	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185407	0.01620	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000435152;ENST00000326052	D;D;D	0.86769	-2.17;-2.17;-2.17	2.62	-1.58	0.08479	.	1.996360	0.03567	N	0.228035	T	0.55226	0.1907	N	0.00223	-1.815	0.09310	N	1	B;B;B;B	0.32620	0.378;0.186;0.069;0.012	B;B;B;B	0.37550	0.253;0.135;0.109;0.009	T	0.64202	-0.6463	10	0.02654	T	1	.	1.7362	0.02942	0.1372:0.3766:0.2955:0.1907	.	42;42;42;42	Q8NCW4;G3XAE3;G3V0H4;C9JXH3	.;.;.;.	L	42	ENSP00000314151:V42L;ENSP00000393628:V42L;ENSP00000353829:V42L	ENSP00000314151:V42L	V	+	1	0	KLK3	56051385	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.269000	0.02834	0.008000	0.14787	0.423000	0.28283	GTG		0.642	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		7	224	7	224	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3686562	3686562	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:3686562C>T	ENST00000344754.4	-	3	534	c.535G>A	c.(535-537)Gac>Aac	p.D179N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	179	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCAGGGTCCTGGCCTTGC	0.632																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(535-537)Gac>Aac		sialic acid binding Ig-like lectin 1, sialoadhesin							106.0	97.0	100.0					20																	3686562		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3686562C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.535G>A	20.37:g.3686562C>T	ENSP00000341141:p.Asp179Asn		Somatic				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	p.D179N	NM_023068.3	NP_075556.1	WXS	Illumina GAIIx	Phase_I	Q9BZZ2	SN_HUMAN			3	534	-			179			Ig-like C2-type 1.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.535G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280754	0.40294	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.75154	-0.91;-0.91	4.68	4.68	0.58851	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000682	T	0.69269	0.3092	M	0.70595	2.14	0.33561	D	0.597418	B;B;B	0.30482	0.198;0.281;0.102	B;B;B	0.34931	0.081;0.192;0.054	T	0.67019	-0.5776	10	0.05959	T	0.93	.	10.9073	0.47088	0.0:0.8099:0.1901:0.0	.	179;179;179	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	N	179	ENSP00000341141:D179N;ENSP00000202578:D179N	ENSP00000202578:D179N	D	-	1	0	SIGLEC1	3634562	0.997000	0.39634	1.000000	0.80357	0.591000	0.36615	0.386000	0.20702	2.435000	0.82474	0.462000	0.41574	GAC		0.632	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		77	117	77	117	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44639788	44639788	+	Missense_Mutation	SNP	C	C	A	rs200848405		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:44639788C>A	ENST00000372330.3	+	5	675	c.656C>A	c.(655-657)cCa>cAa	p.P219Q	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	219					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCAGTGGTTCCAACTCGGTTT	0.637																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(655-657)cCa>cAa		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						116.0	133.0	127.0					20																	44639788		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639788C>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.656C>A	20.37:g.44639788C>A	ENSP00000361405:p.Pro219Gln		Somatic					p.P219Q	NM_004994.2	NP_004985.2	WXS	Illumina GAIIx	Phase_I	P14780	MMP9_HUMAN			5	675	+		Myeloproliferative disorder(115;0.0122)	219					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.656C>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336489	0.41398	.	.	ENSG00000100985	ENST00000372330	T	0.09073	3.02	4.56	-0.0126	0.13988	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (1);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.384569	0.30347	N	0.009822	T	0.04452	0.0122	N	0.16478	0.41	0.24623	N	0.993663	B	0.30584	0.286	B	0.28465	0.09	T	0.36261	-0.9755	10	0.46703	T	0.11	.	7.3424	0.26644	0.6234:0.287:0.0:0.0896	.	219	P14780	MMP9_HUMAN	Q	219	ENSP00000361405:P219Q	ENSP00000361405:P219Q	P	+	2	0	MMP9	44073195	0.123000	0.22298	0.012000	0.15200	0.012000	0.07955	2.295000	0.43576	0.226000	0.20979	-0.188000	0.12872	CCA		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			176	308	176	308	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38883946	38883946	+	Missense_Mutation	SNP	T	T	C	rs546476409		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr22:38883946T>C	ENST00000396821.3	-	12	1721	c.1622A>G	c.(1621-1623)aAt>aGt	p.N541S	DDX17_ENST00000381633.3_Missense_Mutation_p.N464S|DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000432525.1_5'Flank	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	541	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GATAGCCTGATTGGCCTCTTC	0.547																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1621-1623)aAt>aGt		DEAD (Asp-Glu-Ala-Asp) box helicase 17							148.0	128.0	135.0					22																	38883946		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38883946T>C	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1622A>G	22.37:g.38883946T>C	ENSP00000380033:p.Asn541Ser		Somatic				DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S	p.N541S	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			12	1721	-	Melanoma(58;0.0286)		462					B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.1622A>G	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543080	0.45280	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.29917	1.56;1.6;1.55	5.46	5.46	0.80206	.	0.088085	0.85682	D	0.000000	T	0.22936	0.0554	N	0.21508	0.67	0.80722	D	1	B;B	0.33379	0.287;0.41	B;B	0.30401	0.054;0.115	T	0.04467	-1.0949	10	0.46703	T	0.11	-21.8726	15.5289	0.75936	0.0:0.0:0.0:1.0	.	543;541	Q59F66;Q92841-4	.;.	S	541;464;541;543	ENSP00000380033:N541S;ENSP00000371046:N464S;ENSP00000385536:N541S	ENSP00000371046:N464S	N	-	2	0	DDX17	37213892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.602000	0.61098	2.062000	0.61559	0.533000	0.62120	AAT		0.547	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		77	103	77	103	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55538531	55538532	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:55538531_55538532delAC	ENST00000294383.6	-	65	7528_7529	c.7529_7530delGT	c.(7528-7530)tgtfs	p.C2510fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2510					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAGCTGCAGGACACCTGATGAC	0.406																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(7528-7530)tgtfs		ubiquitin specific peptidase 24																																				SO:0001589	frameshift_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55538531_55538532delAC	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7529_7530delGT	1.37:g.55538533_55538534delAC	ENSP00000294383:p.Cys2510fs		Somatic				USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs	p.C2510fs	NM_015306.2	NP_056121.2	WXS	Illumina GAIIx	Phase_I	Q9UPU5	UBP24_HUMAN			65	7528_7529	-			2510					Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	ENST00000294383.6	37	c.7529_7530delGT	CCDS44154.2																																																																																				0.406	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	20	7	20	---	---	---	---
IL6ST	3572	broad.mit.edu	37	5	55259975	55259975	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:55259975delT	ENST00000381298.2	-	6	969	c.657delA	c.(655-657)aaa>aa	p.K219fs	IL6ST_ENST00000336909.5_Splice_Site_p.K219fs|IL6ST_ENST00000536319.1_Splice_Site_p.K219fs|IL6ST_ENST00000502326.3_Splice_Site_p.K219fs|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000381287.4_Splice_Site_p.K219fs|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_Splice_Site_p.K219fs|IL6ST_ENST00000381294.3_Splice_Site_p.K219fs|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	219					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TATAACTACCTTTATATACAG	0.294			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(655-657)aaa>aa		interleukin 6 signal transducer (gp130, oncostatin M receptor)							86.0	84.0	85.0					5																	55259975		2203	4300	6503	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55259975delT	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.658+1A>-	5.37:g.55259975delT			Somatic				IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.K219fs|IL6ST_ENST00000381294.3_Splice_Site_p.K219fs|IL6ST_ENST00000522633.2_Splice_Site_p.K219fs|IL6ST_ENST00000336909.5_Splice_Site_p.K219fs|IL6ST_ENST00000381287.4_Splice_Site_p.K219fs|IL6ST_ENST00000536319.1_Splice_Site_p.K219fs|IL6ST_ENST00000381286.3_Intron	p.K219fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	WXS	Illumina GAIIx	Phase_I	P40189	IL6RB_HUMAN			6	969	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	219					A0N0L4|Q5FC04|Q9UQ41	Splice_Site	DEL	ENST00000381298.2	37	c.657delA	CCDS3971.1																																																																																				0.294	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Frame_Shift_Del	9	23	9	23	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397192	397193	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:397192_397193insAA	ENST00000380956.4	+	5	703_704	c.577_578insAA	c.(577-579)caafs	p.Q193fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	193					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AATCCCGTACCAATGTCCCATG	0.554			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(577-579)caafs		interferon regulatory factor 4																																				SO:0001589	frameshift_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397192_397193insAA	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.578_579dupAA	6.37:g.397193_397194dupAA	ENSP00000370343:p.Gln193fs		Somatic				IRF4_ENST00000495137.1_3'UTR	p.Q193fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	703_704	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	193					Q5VUI7|Q99660	Frame_Shift_Ins	INS	ENST00000380956.4	37	c.577_578insAA	CCDS4469.1																																																																																				0.554	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			119	161	119	161	---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2643660	2643661	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:2643660_2643661delTG	ENST00000382100.3	+	6	1209_1210	c.853_854delTG	c.(853-855)tgtfs	p.C285fs	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	285	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CCAATTTGAATGTGAGGATGGC	0.485																																						ENST00000382100.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(853-855)tgtfs		very low density lipoprotein receptor																																				SO:0001589	frameshift_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643660_2643661delTG		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.853_854delTG	9.37:g.2643662_2643663delTG	ENSP00000371532:p.Cys285fs		Somatic				VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	p.C285fs	NM_003383.3	NP_003374.3	WXS	Illumina GAIIx	Phase_I	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	6	1209_1210	+						LDL-receptor class A 7.		B2RMZ7|D3DRH6|Q5VVF6	Frame_Shift_Del	DEL	ENST00000382100.3	37	c.853_854delTG	CCDS6446.1																																																																																				0.485	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		40	43	40	43	---	---	---	---
