#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
SPTA1	6708	broad.mit.edu	37	1	158637824	158637824	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:158637824T>A	ENST00000368147.4	-	15	2042	c.1862A>T	c.(1861-1863)cAa>cTa	p.Q621L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	621					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTGCTTTTGAACCCTGCT	0.388																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1861-1863)cAa>cTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							189.0	177.0	181.0					1																	158637824		1835	4086	5921	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637824T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1862A>T	1.37:g.158637824T>A	ENSP00000357129:p.Gln621Leu		Somatic					p.Q621L	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			15	2042	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1862A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965124	0.53507	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53640	0.61;0.61	5.13	3.98	0.46160	.	0.000000	0.30890	N	0.008669	T	0.35248	0.0925	M	0.69463	2.115	0.46356	D	0.999004	B	0.22983	0.078	B	0.36766	0.232	T	0.27839	-1.0062	10	0.40728	T	0.16	.	10.2374	0.43290	0.1485:0.0:0.0:0.8515	.	621	P02549	SPTA1_HUMAN	L	621	ENSP00000357130:Q621L;ENSP00000357129:Q621L	ENSP00000357129:Q621L	Q	-	2	0	SPTA1	156904448	1.000000	0.71417	0.985000	0.45067	0.943000	0.58893	5.110000	0.64622	0.943000	0.37553	0.528000	0.53228	CAA		0.388	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	189	4	189	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111416223	111416223	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:111416223G>T	ENST00000302759.6	-	12	1491	c.1373C>A	c.(1372-1374)cCa>cAa	p.P458Q	BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q|BUB1_ENST00000535254.1_Missense_Mutation_p.P438Q	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	458	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGGGTGATGGCTGCACTTT	0.433																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1312-1314)cCa>cAa		BUB1 mitotic checkpoint serine/threonine kinase							227.0	193.0	205.0					2																	111416223		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111416223G>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1373C>A	2.37:g.111416223G>T	ENSP00000302530:p.Pro458Gln		Somatic				BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q	p.P438Q	NM_001278616.1	NP_001265545.1	WXS	Illumina GAIIx	Phase_I	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	11	1380	-		Ovarian(717;0.0822)	458					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1313C>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204300	0.79127	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.76578	-0.08;-1.03;0.2	5.86	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.86125	0.5858	M	0.65498	2.005	0.49389	D	0.99978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87298	0.2303	10	0.66056	D	0.02	-15.8207	13.3032	0.60336	0.0768:0.0:0.9232:0.0	.	438;458;458	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Q	438;458;458;458	ENSP00000441013:P438Q;ENSP00000386701:P458Q;ENSP00000302530:P458Q	ENSP00000302530:P458Q	P	-	2	0	BUB1	111132696	1.000000	0.71417	0.920000	0.36463	0.979000	0.70002	7.540000	0.82074	1.623000	0.50342	0.650000	0.86243	CCA		0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		4	81	4	81	---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16364942	16364942	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:16364942G>C	ENST00000334133.4	-	9	1545	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	425					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAGACAATCTGCTTGGTGGAT	0.473																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1273-1275)Cag>Gag		raftlin, lipid raft linker 1							104.0	93.0	97.0					3																	16364942		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16364942G>C	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1273C>G	3.37:g.16364942G>C	ENSP00000334153:p.Gln425Glu		Somatic				OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E	p.Q425E	NM_015150.1	NP_055965.1	WXS	Illumina GAIIx	Phase_I	Q14699	RFTN1_HUMAN			9	1545	-			425					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.1273C>G	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625728	0.87560	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.39406	1.08;1.08	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.71497	-0.4575	10	0.87932	D	0	-28.0873	15.9975	0.80262	0.0:0.0:1.0:0.0	.	389;425	G3XAJ6;Q14699	.;RFTN1_HUMAN	E	389;425	ENSP00000403926:Q389E;ENSP00000334153:Q425E	ENSP00000334153:Q425E	Q	-	1	0	RFTN1	16339946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.255000	0.89846	2.503000	0.84419	0.555000	0.69702	CAG		0.473	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		14	52	14	52	---	---	---	---
VIPR1	7433	broad.mit.edu	37	3	42567412	42567412	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:42567412G>T	ENST00000325123.4	+	4	439	c.326G>T	c.(325-327)gGc>gTc	p.G109V	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.G68V|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.G62V|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000473575.1_3'UTR	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	109					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCGACGAAGGCTGGACGCAC	0.647																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(202-204)gGc>gTc		vasoactive intestinal peptide receptor 1							80.0	60.0	67.0					3																	42567412		2203	4300	6503	SO:0001583	missense	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42567412G>T	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.326G>T	3.37:g.42567412G>T	ENSP00000327246:p.Gly109Val		Somatic				VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000325123.4_Missense_Mutation_p.G109V|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.G62V|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA	p.G68V	NM_001251882.1	NP_001238811.1	WXS	Illumina GAIIx	Phase_I	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	5	827	+			109					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	c.203G>T	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796347	0.50208	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000543411;ENST00000439731;ENST00000325123	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	4.06	3.18	0.36537	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.96052	0.8714	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95521	0.8594	10	0.87932	D	0	.	9.1952	0.37224	0.1054:0.0:0.8946:0.0	.	82;62;109	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	V	68;68;62;109;109	ENSP00000394950:G68V;ENSP00000415013:G68V;ENSP00000445701:G62V;ENSP00000403478:G109V;ENSP00000327246:G109V	ENSP00000327246:G109V	G	+	2	0	VIPR1	42542416	1.000000	0.71417	0.989000	0.46669	0.404000	0.30871	5.073000	0.64395	1.054000	0.40438	0.462000	0.41574	GGC		0.647	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		3	36	3	36	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125824617	125824617	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:125824617C>G	ENST00000393434.2	-	22	2954	c.2605G>C	c.(2605-2607)Gcc>Ccc	p.A869P	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	869	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGGGAGCGGCCACGTCGGTC	0.488																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2605-2607)Gcc>Ccc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						199.0	189.0	193.0					3																	125824617		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824617C>G	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2605G>C	3.37:g.125824617C>G	ENSP00000377083:p.Ala869Pro		Somatic				ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P	p.A869P	NM_012190.3	NP_036322.2	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2954	-			869			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2605G>C	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643585	0.87859	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	M	0.72576	2.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88180	0.2870	10	0.72032	D	0.01	.	14.7775	0.69740	0.0:1.0:0.0:0.0	.	768;404;869	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	P	879;869;768;869	ENSP00000273450:A879P;ENSP00000420293:A869P;ENSP00000395881:A768P;ENSP00000377083:A869P	ENSP00000273450:A879P	A	-	1	0	ALDH1L1	127307307	1.000000	0.71417	0.995000	0.50966	0.820000	0.46376	7.380000	0.79704	2.329000	0.79093	0.591000	0.81541	GCC		0.488	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		40	125	40	125	---	---	---	---
AHSG	197	broad.mit.edu	37	3	186338454	186338454	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:186338454C>T	ENST00000273784.5	+	7	918	c.842C>T	c.(841-843)tCc>tTc	p.S281F	AHSG_ENST00000411641.2_Missense_Mutation_p.S280F	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	280					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCACCTCCGTCCCCTCCACTT	0.627																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(838-840)tCc>tTc		alpha-2-HS-glycoprotein							114.0	118.0	117.0					3																	186338454		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338454C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.842C>T	3.37:g.186338454C>T	ENSP00000273784:p.Ser281Phe		Somatic				AHSG_ENST00000273784.5_Missense_Mutation_p.S281F	p.S280F			WXS	Illumina GAIIx	Phase_I	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1058	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		280					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.839C>T		.	.	.	.	.	.	.	.	.	.	c	14.13	2.444277	0.43429	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.05382	3.45;3.45	5.5	1.58	0.23477	.	1.577980	0.03211	N	0.176208	T	0.11239	0.0274	L	0.50333	1.59	0.09310	N	1	P;D;P	0.53151	0.956;0.958;0.883	P;P;B	0.48654	0.585;0.558;0.438	T	0.17319	-1.0373	10	0.56958	D	0.05	.	4.7736	0.13167	0.0:0.5828:0.1574:0.2598	.	346;280;281	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	F	280;346;281	ENSP00000393887:S280F;ENSP00000273784:S281F	ENSP00000273784:S281F	S	+	2	0	AHSG	187821148	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.191000	0.09601	0.343000	0.23821	-0.140000	0.14226	TCC		0.627	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		43	163	43	163	---	---	---	---
CCNG2	901	broad.mit.edu	37	4	78082099	78082099	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr4:78082099A>G	ENST00000316355.5	+	4	858	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	168					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ATACCATACTATTATACTTTG	0.313																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(502-504)Att>Gtt		cyclin G2							78.0	79.0	79.0					4																	78082099		2202	4298	6500	SO:0001583	missense	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78082099A>G	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.502A>G	4.37:g.78082099A>G	ENSP00000315743:p.Ile168Val		Somatic				CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V	p.I168V	NM_004354.2	NP_004345.1	WXS	Illumina GAIIx	Phase_I	Q16589	CCNG2_HUMAN			4	858	+			168					B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	c.502A>G	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885015	0.33255	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.82	5.82	0.92795	.	0.181068	0.64402	D	0.000016	T	0.21841	0.0526	L	0.27053	0.805	0.43476	D	0.995694	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.04855	-1.0922	10	0.37606	T	0.19	-11.084	10.5119	0.44866	0.9282:0.0:0.0718:0.0	.	168;168	B4DF25;Q16589	.;CCNG2_HUMAN	V	168	ENSP00000315743:I168V;ENSP00000346379:I168V;ENSP00000424665:I168V;ENSP00000379002:I168V;ENSP00000426476:I168V	ENSP00000315743:I168V	I	+	1	0	CCNG2	78301123	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.180000	0.58296	2.225000	0.72522	0.533000	0.62120	ATT		0.313	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		9	48	9	48	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692511	135692511	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:135692511G>A	ENST00000513104.1	-	2	847	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	189					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTCGATGCGGGCGCCCTTG	0.622																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(565-567)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							90.0	98.0	95.0					5																	135692511		2198	4293	6491	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692511G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.565C>T	5.37:g.135692511G>A	ENSP00000426070:p.Arg189Cys		Somatic				TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	p.R189C	NM_020389.2	NP_065122.1	WXS	Illumina GAIIx	Phase_I	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	847	-			189					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.565C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.826527|2.826527	0.50739|0.50739	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.71103	.|-0.54;-0.54;-0.54	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Ankyrin repeat-containing domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80166|0.80166	0.4573|0.4573	L|L	0.43554|0.43554	1.36|1.36	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;B;B	.|0.89917	.|1.0;0.586;0.126;0.126	.|D;B;B;B	.|0.75020	.|0.985;0.072;0.032;0.049	T|T	0.80652|0.80652	-0.1287|-0.1287	5|10	.|0.59425	.|D	.|0.04	-15.1349|-15.1349	19.0783|19.0783	0.93171|0.93171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|189;189;189;189	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	L|C	188|189	.|ENSP00000347312:R189C;ENSP00000441628:R189C;ENSP00000426070:R189C	.|ENSP00000265193:R189C	P|R	-|-	2|1	0|0	TRPC7|TRPC7	135720410|135720410	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.479000|0.479000	0.33129|0.33129	6.471000|6.471000	0.73562|0.73562	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.622	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		24	94	24	94	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30121516	30121516	+	3'UTR	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:30121516G>A	ENST00000449742.2	-	0	1751				TRIM10_ENST00000376704.3_Silent_p.C379C	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10						erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AGAACTGGCAGCAGCCTGAGT	0.547																																						ENST00000376704.3																			0				ovary(1)	1						c.(1135-1137)tgC>tgT		tripartite motif containing 10							70.0	58.0	62.0					6																	30121516		1511	2709	4220	SO:0001624	3_prime_UTR_variant	10107					cytoplasm	zinc ion binding	g.chr6:30121516G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.*230C>T	6.37:g.30121516G>A			Somatic				TRIM10_ENST00000449742.2_3'UTR	p.C379C	NM_052828.2	NP_439893.2	WXS	Illumina GAIIx	Phase_I	Q9UDY6	TRI10_HUMAN			8	1212	-			0			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1137C>T	CCDS34375.1																																																																																				0.547	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			3	44	3	44	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47846113	47846113	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:47846113C>T	ENST00000339488.4	-	3	2500	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	823						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TTTCGCTTGGCACGTTTCTTT	0.438																																						ENST00000339488.4																			0											c.(2467-2469)Gcc>Acc		patched domain containing 4							138.0	139.0	139.0					6																	47846113		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846113C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2467G>A	6.37:g.47846113C>T	ENSP00000341914:p.Ala823Thr		Somatic					p.A823T	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			3	2500	-			823					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2467G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731491	0.48939	.	.	ENSG00000244694	ENST00000339488	D	0.92099	-2.97	6.16	5.29	0.74685	.	0.180038	0.47852	D	0.000210	T	0.79094	0.4388	N	0.14661	0.345	0.80722	D	1	P	0.37525	0.598	B	0.39771	0.309	T	0.80564	-0.1326	10	0.12430	T	0.62	.	17.6102	0.88050	0.0:0.8767:0.1233:0.0	.	823	Q6ZW05	CF138_HUMAN	T	823	ENSP00000341914:A823T	ENSP00000341914:A823T	A	-	1	0	C6orf138	47954072	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.175000	0.77632	1.593000	0.50029	0.650000	0.86243	GCC		0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		26	67	26	67	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100014780	100014780	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr7:100014780C>G	ENST00000398027.2	-	6	635	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	130							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAAGTCTCTGCAAAATCA	0.413																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(388-390)Gag>Cag		zinc finger, CW type with PWWP domain 1							115.0	105.0	108.0					7																	100014780		1872	4100	5972	SO:0001583	missense	55063						zinc ion binding	g.chr7:100014780C>G	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.388G>C	7.37:g.100014780C>G	ENSP00000381109:p.Glu130Gln		Somatic				ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q	p.E130Q	NM_017984.4	NP_060454.3	WXS	Illumina GAIIx	Phase_I	Q9H0M4	ZCPW1_HUMAN			6	635	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		130					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.388G>C	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016793	0.75161	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.60672	0.42;0.17;0.41;0.17	4.48	4.48	0.54585	.	0.214568	0.23474	N	0.047789	T	0.69602	0.3129	L	0.54323	1.7	0.26936	N	0.966357	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.971	D;D;P;D;P	0.83275	0.994;0.996;0.796;0.996;0.725	T	0.61068	-0.7137	9	.	.	.	-12.9088	12.8291	0.57736	0.0:1.0:0.0:0.0	.	130;90;131;130;9	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	Q	130;9;130;9;131	ENSP00000381109:E130Q;ENSP00000419187:E9Q;ENSP00000354210:E130Q;ENSP00000314880:E9Q	.	E	-	1	0	ZCWPW1	99852716	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.295000	0.51794	2.476000	0.83614	0.643000	0.83706	GAG		0.413	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		20	57	20	57	---	---	---	---
CCSER2	54462	broad.mit.edu	37	10	86132184	86132184	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:86132184C>G	ENST00000224756.8	+	2	1561	c.1376C>G	c.(1375-1377)gCc>gGc	p.A459G	CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G|CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	459					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											AATGAAAAAGCCTTCAGTAAA	0.328																																						ENST00000224756.8																			0											c.(1375-1377)gCc>gGc		coiled-coil serine-rich protein 2							82.0	92.0	89.0					10																	86132184		2203	4296	6499	SO:0001583	missense	54462							g.chr10:86132184C>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1376C>G	10.37:g.86132184C>G	ENSP00000224756:p.Ala459Gly		Somatic				CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G|CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G	p.A459G	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	WXS	Illumina GAIIx	Phase_I					2	1561	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1376C>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.305629	0.01353	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46819	0.86;2.2;2.2	4.51	0.276	0.15663	.	2.788850	0.01328	N	0.011146	T	0.28732	0.0712	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.19200	0.034;0.013;0.034	B;B;B	0.19391	0.025;0.025;0.025	T	0.14144	-1.0483	10	0.37606	T	0.19	2.2605	4.76	0.13102	0.1225:0.6021:0.1198:0.1556	.	459;459;459	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	G	459	ENSP00000353068:A459G;ENSP00000224756:A459G;ENSP00000361160:A459G	ENSP00000224756:A459G	A	+	2	0	FAM190B	86122164	0.001000	0.12720	0.051000	0.19133	0.428000	0.31595	0.476000	0.22180	-0.387000	0.07809	-0.797000	0.03246	GCC		0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		5	97	5	97	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44151632	44151632	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:44151632G>A	ENST00000343631.3	+	7	1246	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	EXT2_ENST00000395673.3_Missense_Mutation_p.V406M|EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000533608.1_Missense_Mutation_p.V373M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	373					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATGTCAGATGTGTACAGTAT	0.453			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1216-1218)Gtg>Atg		exostosin glycosyltransferase 2							199.0	179.0	185.0					11																	44151632		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44151632G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1117G>A	11.37:g.44151632G>A	ENSP00000342656:p.Val373Met		Somatic				EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M|EXT2_ENST00000533608.1_Missense_Mutation_p.V373M	p.V406M	NM_000401.3	NP_000392.3	WXS	Illumina GAIIx	Phase_I	Q93063	EXT2_HUMAN			7	1272	+			373					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1216G>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659745	0.29515	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79	5.66	1.03	0.20045	.	0.174764	0.64402	N	0.000017	D	0.92756	0.7697	N	0.10945	0.07	0.38387	D	0.9453	B;B;B;B;B	0.10296	0.001;0.002;0.001;0.003;0.003	B;B;B;B;B	0.18263	0.005;0.021;0.012;0.016;0.016	D	0.86147	0.1585	10	0.41790	T	0.15	2.7548	7.5656	0.27876	0.7228:0.0:0.2772:0.0	.	373;373;373;373;386	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	373;373;406;373	ENSP00000431173:V373M;ENSP00000351509:V373M;ENSP00000379032:V406M;ENSP00000342656:V373M	ENSP00000342656:V373M	V	+	1	0	EXT2	44108208	0.868000	0.29978	0.630000	0.29268	0.995000	0.86356	1.755000	0.38379	0.277000	0.22141	-0.136000	0.14681	GTG		0.453	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		23	53	23	53	---	---	---	---
GAB2	9846	broad.mit.edu	37	11	77961404	77961404	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:77961404G>A	ENST00000361507.4	-	3	504	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	140					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCTGGAGAAGAGCGGGGGCC	0.517																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(418-420)tCt>tTt		GRB2-associated binding protein 2							91.0	99.0	96.0					11																	77961404		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961404G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.419C>T	11.37:g.77961404G>A	ENSP00000354952:p.Ser140Phe		Somatic				GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F	p.S140F	NM_080491.2	NP_536739.1	WXS	Illumina GAIIx	Phase_I	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	504	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		140					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.419C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790008	0.70337	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	T;T;T;T	0.52754	2.33;2.56;0.7;0.65	5.46	5.46	0.80206	.	0.249707	0.32444	U	0.006097	T	0.68137	0.2968	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67503	-0.5654	10	0.56958	D	0.05	-13.5061	19.5125	0.95148	0.0:0.0:1.0:0.0	.	140	Q9UQC2	GAB2_HUMAN	F	102;140;102;102	ENSP00000343959:S102F;ENSP00000354952:S140F;ENSP00000433762:S102F;ENSP00000431868:S102F	ENSP00000343959:S102F	S	-	2	0	GAB2	77639052	1.000000	0.71417	0.996000	0.52242	0.103000	0.19146	9.016000	0.93645	2.840000	0.97914	0.655000	0.94253	TCT		0.517	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		28	62	28	62	---	---	---	---
DDX47	51202	broad.mit.edu	37	12	12974651	12974651	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:12974651A>G	ENST00000358007.3	+	4	455	c.433A>G	c.(433-435)Ata>Gta	p.I145V	DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	145	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AAAACCACATATAATAATAGG	0.358																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(433-435)Ata>Gta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							87.0	88.0	88.0					12																	12974651		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974651A>G	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.433A>G	12.37:g.12974651A>G	ENSP00000350698:p.Ile145Val		Somatic				DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	p.I145V	NM_016355.3	NP_057439.2	WXS	Illumina GAIIx	Phase_I	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	4	455	+		Prostate(47;0.0526)	145			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.433A>G	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	0.890	-0.725765	0.03158	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.55052	0.54;1.96;0.54	5.09	-4.32	0.03688	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.497399	0.22137	N	0.064116	T	0.32585	0.0834	L	0.28054	0.825	0.20764	N	0.999851	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.008;0.003;0.008	T	0.32161	-0.9917	10	0.08599	T	0.76	-1.7387	16.2272	0.82306	0.3132:0.0:0.6868:0.0	.	145;145;145	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	V	145;145;82	ENSP00000319578:I145V;ENSP00000350698:I145V;ENSP00000444000:I82V	ENSP00000319578:I145V	I	+	1	0	DDX47	12865918	0.000000	0.05858	0.106000	0.21319	0.868000	0.49771	-1.372000	0.02570	-0.705000	0.05035	-0.388000	0.06559	ATA		0.358	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		12	42	12	42	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100622586	100622586	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:100622586C>T	ENST00000267294.4	-	1	1577	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	448					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCCACGTGCTCCACCGTGA	0.677																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1342-1344)gaG>gaA		Zic family member 5							72.0	67.0	69.0					13																	100622586		2203	4300	6503	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622586C>T	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1344G>A	13.37:g.100622586C>T			Somatic					p.E448E	NM_033132.3	NP_149123.2	WXS	Illumina GAIIx	Phase_I	Q96T25	ZIC5_HUMAN			1	1577	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		448					Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1344G>A	CCDS9494.2																																																																																				0.677	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		16	39	16	39	---	---	---	---
GZMB	3002	broad.mit.edu	37	14	25101106	25101106	+	Silent	SNP	C	C	T	rs150419134	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:25101106C>T	ENST00000216341.4	-	4	664	c.558G>A	c.(556-558)gaG>gaA	p.E186E	GZMB_ENST00000382540.1_Silent_p.E141E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382542.1_Silent_p.E220E|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Silent_p.E174E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCACGCACAACTCAATGGTAC	0.453																																						ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(556-558)gaG>gaA		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)		C		1,4405	2.1+/-5.4	0,1,2202	144.0	135.0	138.0		558	2.3	0.0	14	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMB	NM_004131.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		186/248	25101106	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101106C>T	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.558G>A	14.37:g.25101106C>T			Somatic				GZMB_ENST00000415355.3_Silent_p.E174E|GZMB_ENST00000382542.1_Silent_p.E220E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Silent_p.E141E	p.E186E			WXS	Illumina GAIIx	Phase_I	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	664	-			186			Peptidase S1.		Q8N1D2|Q9UCC1	Silent	SNP	ENST00000216341.4	37	c.558G>A	CCDS9633.1																																																																																				0.453	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		25	122	25	122	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256863	69256863	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:69256863C>A	ENST00000439696.2	-	2	705	c.404G>T	c.(403-405)tGc>tTc	p.C135F	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	135					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCGAACTGGCACTTGTCCCC	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(403-405)tGc>tTc		ZFP36 ring finger protein-like 1							109.0	103.0	105.0					14																	69256863		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256863C>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.404G>T	14.37:g.69256863C>A	ENSP00000388402:p.Cys135Phe		Somatic	OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F	p.C135F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	WXS	Illumina GAIIx	Phase_I	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	705	-			135					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.404G>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828820	0.71258	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	D;D;D;D	0.99951	-8.74;-8.74;-8.74;-8.74	4.69	4.69	0.59074	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	H	0.96662	3.86	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96012	0.9002	10	0.87932	D	0	-0.0896	17.8126	0.88620	0.0:1.0:0.0:0.0	.	135	Q07352	TISB_HUMAN	F	135;135;118;141;113	ENSP00000388402:C135F;ENSP00000337386:C135F;ENSP00000450784:C141F;ENSP00000450600:C113F	ENSP00000337386:C135F	C	-	2	0	ZFP36L1	68326616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.563000	0.82314	2.423000	0.82170	0.585000	0.79938	TGC		0.642	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			36	159	36	159	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71185232	71185232	+	De_novo_Start_InFrame	SNP	T	T	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:71185232T>G	ENST00000260382.5	+	0	259				LRRC49_ENST00000560691.1_5'Flank|LRRC49_ENST00000560369.1_De_novo_Start_InFrame|LRRC49_ENST00000443425.2_De_novo_Start_OutOfFrame|THAP10_ENST00000249861.4_5'Flank|LRRC49_ENST00000544974.2_Intron	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTGTCTCCTATCATGATTCCC	0.512											OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000443425.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34								leucine rich repeat containing 49							164.0	151.0	155.0					15																	71185232		2199	4297	6496			54839					cytoplasm|microtubule		g.chr15:71185232T>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0			15.37:g.71185232T>G			Somatic	OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	LRRC49_ENST00000260382.5_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_De_novo_Start_InFrame		NM_001199018.1	NP_001185947.1	WXS	Illumina GAIIx	Phase_I	Q8IUZ0	LRC49_HUMAN			0	62	+								B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Translation_Start_Site	SNP	ENST00000260382.5	37		CCDS32282.1																																																																																				0.512	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		23	101	23	101	---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46863542	46863542	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:46863542G>A	ENST00000393382.3	-	12	1886	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGGCTTGGGTGGCGGCCTT	0.577																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1744-1746)aCc>aTc		tubulin tyrosine ligase-like family, member 6							382.0	353.0	363.0					17																	46863542		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46863542G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1745C>T	17.37:g.46863542G>A	ENSP00000377043:p.Thr582Ile		Somatic				TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	p.T582I	NM_001130918.1	NP_001124390.1	WXS	Illumina GAIIx	Phase_I	Q8N841	TTLL6_HUMAN			12	1886	-			534						Missense_Mutation	SNP	ENST00000393382.3	37	c.1745C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805772	0.31961	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	-3.36	0.04913	.	4.913040	0.00589	N	0.000348	T	0.33556	0.0867	L	0.53249	1.67	0.09310	N	1	B;B;B	0.28713	0.112;0.22;0.131	B;B;B	0.27608	0.024;0.08;0.081	T	0.12811	-1.0533	9	0.33940	T	0.23	.	2.0048	0.03475	0.1541:0.3723:0.219:0.2546	.	534;335;275	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	I	582;275;260;534	.	ENSP00000302547:T275I	T	-	2	0	TTLL6	44218541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.072000	0.11486	-0.132000	0.11557	-0.264000	0.10439	ACC		0.577	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		13	530	13	530	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4930834	4930834	+	RNA	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:4930834C>G	ENST00000592666.1	+	0	1091				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGCAGCTCCACGTCCAGG	0.647																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							58.0	66.0	63.0					19																	4930834		2128	4212	6340			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4930834C>G	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4930834C>G			Somatic								WXS	Illumina GAIIx	Phase_I	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	1091	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	C	12.94	2.088276	0.36855	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.15	4.15	0.48705	Domain of unknown function DUF3590 (1);	0.441622	0.24193	N	0.040694	T	0.61375	0.2342	L	0.54323	1.7	0.30103	N	0.8072429999999999	D;P	0.63880	0.993;0.951	P;P	0.58520	0.815;0.84	T	0.73154	-0.4072	8	0.72032	D	0.01	-11.3305	11.4799	0.50320	0.0:0.8182:0.1818:0.0	.	185;172	Q2HIX7;Q96T88	.;UHRF1_HUMAN	C	172;172;172;185	.	ENSP00000262952:S172C	S	+	2	0	UHRF1	4881834	0.927000	0.31430	0.919000	0.36401	0.052000	0.14988	1.737000	0.38197	2.153000	0.67306	0.561000	0.74099	TCC		0.647	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		29	82	29	82	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50548980	50548980	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:50548980G>T	ENST00000595661.1	+	6	1775	c.1280G>T	c.(1279-1281)gGa>gTa	p.G427V	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G427V|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G415V|ZNF473_ENST00000391821.2_Missense_Mutation_p.G427V			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	427	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTTCACAGTGGAGAGAAGCCT	0.493																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1279-1281)gGa>gTa		zinc finger protein 473							81.0	78.0	79.0					19																	50548980		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548980G>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1280G>T	19.37:g.50548980G>T	ENSP00000472808:p.Gly427Val		Somatic				ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G427V|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G415V|ZNF473_ENST00000391821.2_Missense_Mutation_p.G427V	p.G427V			WXS	Illumina GAIIx	Phase_I	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1775	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	427			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1280G>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666514	0.67814	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.23552	1.9;1.9;1.9	4.18	3.1	0.35709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.166691	0.28871	N	0.013866	T	0.51907	0.1702	M	0.84846	2.72	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	T	0.59343	-0.7472	10	0.87932	D	0	-5.7386	11.2886	0.49237	0.0:0.0:0.8161:0.1839	.	427	Q8WTR7	ZN473_HUMAN	V	427;427;415	ENSP00000270617:G427V;ENSP00000375697:G427V;ENSP00000388961:G415V	ENSP00000270617:G427V	G	+	2	0	ZNF473	55240792	0.988000	0.35896	0.034000	0.17996	0.961000	0.63080	2.698000	0.47068	1.287000	0.44583	0.563000	0.77884	GGA		0.493	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		5	71	5	71	---	---	---	---
FPR2	2358	broad.mit.edu	37	19	52272405	52272405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:52272405C>A	ENST00000598776.1	+	2	1266	c.494C>A	c.(493-495)aCt>aAt	p.T165N	FPR2_ENST00000598953.1_Missense_Mutation_p.T165N|FPR2_ENST00000340023.6_Missense_Mutation_p.T165N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	165					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCTTTTTGACTACAGTAACT	0.512																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(493-495)aCt>aAt		formyl peptide receptor 2							123.0	117.0	119.0					19																	52272405		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272405C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.494C>A	19.37:g.52272405C>A	ENSP00000468897:p.Thr165Asn		Somatic				FPR2_ENST00000598953.1_Missense_Mutation_p.T165N|FPR2_ENST00000340023.6_Missense_Mutation_p.T165N	p.T165N	NM_001462.3	NP_001453.1	WXS	Illumina GAIIx	Phase_I	P25090	FPR2_HUMAN			2	1266	+			165					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.494C>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	9.770	1.172560	0.21704	.	.	ENSG00000171049	ENST00000340023	T	0.71934	-0.61	3.62	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.396359	0.23832	U	0.044128	T	0.63200	0.2491	M	0.65498	2.005	0.25522	N	0.987359	B	0.17852	0.024	B	0.29598	0.104	T	0.49447	-0.8939	10	0.18276	T	0.48	.	6.1861	0.20498	0.3792:0.4358:0.185:0.0	.	165	P25090	FPR2_HUMAN	N	165	ENSP00000340191:T165N	ENSP00000340191:T165N	T	+	2	0	FPR2	56964217	0.809000	0.29036	0.000000	0.03702	0.002000	0.02628	1.459000	0.35234	0.290000	0.22444	-0.479000	0.04858	ACT		0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		3	108	3	108	---	---	---	---
VPS16	64601	broad.mit.edu	37	20	2846119	2846119	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:2846119A>G	ENST00000380445.3	+	22	2321	c.2249A>G	c.(2248-2250)aAg>aGg	p.K750R	VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	750					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCCAAGAGCAAGAAATCACCC	0.562																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(2248-2250)aAg>aGg		vacuolar protein sorting 16 homolog (S. cerevisiae)							52.0	48.0	49.0					20																	2846119		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2846119A>G	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2249A>G	20.37:g.2846119A>G	ENSP00000369810:p.Lys750Arg		Somatic				PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	p.K750R	NM_022575.2	NP_072097.2	WXS	Illumina GAIIx	Phase_I	Q9H269	VPS16_HUMAN			22	2321	+			750					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2249A>G	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078807	0.76528	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.48201	0.82;0.82;0.82	5.5	4.41	0.53225	Vps16, C-terminal (1);	0.044335	0.85682	N	0.000000	T	0.54143	0.1840	L	0.39898	1.24	0.80722	D	1	P;D;D;D	0.61080	0.952;0.989;0.976;0.989	P;P;D;P	0.62955	0.823;0.873;0.909;0.873	T	0.53954	-0.8365	10	0.59425	D	0.04	-23.7104	9.4748	0.38864	0.9159:0.0:0.0841:0.0	.	226;436;606;750	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	R	750;606;436	ENSP00000369810:K750R;ENSP00000369836:K606R;ENSP00000369808:K436R	ENSP00000369808:K436R	K	+	2	0	VPS16	2794119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	0.919000	0.36945	0.533000	0.62120	AAG		0.562	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		14	34	14	34	---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24581635	24581635	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr22:24581635G>A	ENST00000358321.3	+	8	1338	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	359	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGCCTCCGGTACGGCTCAG	0.697																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1075-1077)cgG>cgA		sushi domain containing 2							15.0	17.0	16.0					22																	24581635		2190	4283	6473	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581635G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1077G>A	22.37:g.24581635G>A			Somatic					p.R359R	NM_019601.3	NP_062547.1	WXS	Illumina GAIIx	Phase_I	Q9UGT4	SUSD2_HUMAN			8	1338	+			359			AMOP.		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.1077G>A	CCDS13824.1																																																																																				0.697	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		10	24	10	24	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123179182	123179182	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:123179182C>G	ENST00000371160.1	+	8	921	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	211					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCTGACTCACAAGTCAGAGC	0.353																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(631-633)Caa>Gaa		stromal antigen 2							151.0	144.0	146.0					X																	123179182		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179182C>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.631C>G	X.37:g.123179182C>G	ENSP00000360202:p.Gln211Glu		Somatic				STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E	p.Q211E	NM_001282418.1	NP_001269347.1	WXS	Illumina GAIIx	Phase_I	Q8N3U4	STAG2_HUMAN			8	921	+			211					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.631C>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609429	0.87258	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.44482	0.92;1.59;1.59;1.59;1.59;0.92;1.59	4.74	4.74	0.60224	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.87758	2.905	0.80722	D	1	B;B	0.32324	0.364;0.339	B;B	0.39617	0.209;0.305	T	0.62416	-0.6859	10	0.44086	T	0.13	-7.5923	17.2015	0.86907	0.0:1.0:0.0:0.0	.	211;211	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	E	211;211;142;211;211;211;211	ENSP00000218089:Q211E;ENSP00000397265:Q211E;ENSP00000346555:Q142E;ENSP00000360202:Q211E;ENSP00000360199:Q211E;ENSP00000360187:Q211E;ENSP00000360186:Q211E	ENSP00000218089:Q211E	Q	+	1	0	STAG2	123006863	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.028000	0.70889	2.071000	0.62044	0.422000	0.28245	CAA		0.353	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		3	142	3	142	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151869994	151869994	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:151869994A>C	ENST00000329342.5	+	3	909	c.684A>C	c.(682-684)ttA>ttC	p.L228F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	228	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTGTGTTAGAGGTGTTTG	0.527																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(682-684)ttA>ttC		melanoma antigen family A, 6							159.0	155.0	156.0					X																	151869994		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869994A>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.684A>C	X.37:g.151869994A>C	ENSP00000329199:p.Leu228Phe		Somatic					p.L228F	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	P43360	MAGA6_HUMAN			3	909	+	Acute lymphoblastic leukemia(192;6.56e-05)		228			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.684A>C	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	a	6.712	0.500072	0.12762	.	.	ENSG00000197172	ENST00000329342;ENST00000457643	T;T	0.08008	3.14;3.14	0.605	-1.21	0.09524	.	.	.	.	.	T	0.09949	0.0244	M	0.68952	2.095	0.09310	N	1	P	0.41929	0.765	B	0.42593	0.392	T	0.12708	-1.0537	8	0.72032	D	0.01	.	.	.	.	.	228	P43360	MAGA6_HUMAN	F	228	ENSP00000329199:L228F;ENSP00000401806:L228F	ENSP00000329199:L228F	L	+	3	2	MAGEA6	151620650	0.001000	0.12720	0.002000	0.10522	0.194000	0.23727	-0.269000	0.08596	-1.214000	0.02614	-1.201000	0.01664	TTA		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		14	140	14	140	---	---	---	---
F8	2157	broad.mit.edu	37	X	154182174	154182174	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:154182174G>A	ENST00000360256.4	-	12	2096	c.1896C>T	c.(1894-1896)atC>atT	p.I632I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	632	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTGTGCATGATGTTGGAGG	0.433																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1894-1896)atC>atT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						219.0	205.0	210.0					X																	154182174		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154182174G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1896C>T	X.37:g.154182174G>A			Somatic					p.I632I	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			12	2096	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		632			F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.1896C>T	CCDS35457.1																																																																																				0.433	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	142	8	142	---	---	---	---
