#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
SZT2	23334	broad.mit.edu	37	1	43912679	43912679	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:43912679G>A	ENST00000562955.1	+	65	8955	c.8955G>A	c.(8953-8955)gtG>gtA	p.V2985V	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.V2143V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3042					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGATGCACGTGCACTCGTTCA	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8953-8955)gtG>gtA		seizure threshold 2 homolog (mouse)							138.0	99.0	112.0					1																	43912679		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43912679G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8955G>A	1.37:g.43912679G>A			Somatic				SZT2_ENST00000372442.1_Silent_p.V2143V	p.V2985V	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			65	8955	+			3042					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8955G>A	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	43	3	43	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44415596T>G	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	198					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCGGTGGAATGTGGGGCTGT	0.622																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(592-594)Tgt>Ggt		importin 13							15.0	17.0	16.0					1																	44415596		2203	4297	6500	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415596T>G	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.592T>G	1.37:g.44415596T>G	ENSP00000361418:p.Cys198Gly		Somatic					p.C198G	NM_014652.3	NP_055467.3	WXS	Illumina GAIIx	Phase_I	O94829	IPO13_HUMAN			2	1254	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	198					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.592T>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232759	0.22626	.	.	ENSG00000117408	ENST00000372343	T	0.41065	1.01	5.46	5.46	0.80206	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.043845	0.85682	D	0.000000	T	0.30541	0.0768	N	0.19112	0.55	0.80722	D	1	B	0.24483	0.104	B	0.25759	0.063	T	0.07673	-1.0760	10	0.25751	T	0.34	-4.7048	15.5348	0.75993	0.0:0.0:0.0:1.0	.	198	O94829	IPO13_HUMAN	G	198	ENSP00000361418:C198G	ENSP00000361418:C198G	C	+	1	0	IPO13	44188183	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.015000	0.70791	2.088000	0.63022	0.402000	0.26972	TGT		0.622	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		3	16	3	16	---	---	---	---
ATP6V0B	533	broad.mit.edu	37	1	44442867	44442867	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44442867G>C	ENST00000472174.2	+	7	963	c.570G>C	c.(568-570)ggG>ggC	p.G190G	B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000236067.4_Silent_p.G143G|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000532642.1_Silent_p.G190G|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000356836.6_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	190					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTCTTTGGGGTCATCGTCG	0.557																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(568-570)ggG>ggC		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b							83.0	87.0	86.0					1																	44442867		2203	4300	6503	SO:0001819	synonymous_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442867G>C	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.570G>C	1.37:g.44442867G>C			Somatic				ATP6V0B_ENST00000236067.4_Silent_p.G143G|ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000498664.1_Silent_p.G143G	p.G190G			WXS	Illumina GAIIx	Phase_I	Q99437	VATO_HUMAN			7	667	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	190					D3DPY5|Q6IB32	Silent	SNP	ENST00000472174.2	37	c.570G>C	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057577	0.19907	.	.	ENSG00000117410	ENST00000440531	.	.	.	5.1	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57136	-0.7863	6	0.87932	D	0	-7.1888	4.056	0.09816	0.0763:0.1333:0.3821:0.4083	.	.	.	.	A	32	.	ENSP00000408413:G32A	G	+	2	0	ATP6V0B	44215454	0.057000	0.20700	1.000000	0.80357	0.999000	0.98932	-0.623000	0.05546	0.470000	0.27294	0.655000	0.94253	GGG		0.557	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		26	82	26	82	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCACCGACAGATGTTGTCGA	0.463																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(745-747)Ctg>Gtg		coiled-coil domain containing 88A							131.0	114.0	120.0					2																	55582770		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55582770G>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.745C>G	2.37:g.55582770G>C	ENSP00000410608:p.Leu249Val		Somatic				CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V	p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	WXS	Illumina GAIIx	Phase_I	Q3V6T2	GRDN_HUMAN			8	1586	-			249					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.745C>G		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709257	0.68615	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.05	2.22	0.28083	.	0.000000	0.38058	U	0.001822	T	0.79936	0.4532	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.988;0.999;0.999	D;D;D	0.87578	0.951;0.997;0.998	T	0.78127	-0.2325	10	0.51188	T	0.08	-5.5733	9.1172	0.36764	0.3656:0.0:0.6344:0.0	.	249;249;249	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	249	ENSP00000338728:L249V;ENSP00000263630:L249V;ENSP00000410608:L249V;ENSP00000404431:L249V	ENSP00000263630:L249V	L	-	1	2	CCDC88A	55436274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.530000	0.45641	0.656000	0.30886	0.591000	0.81541	CTG		0.463	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		34	53	34	53	---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:97530551A>G	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	285	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGCAGAGCATGCCAGCCGC	0.632																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(853-855)Tgc>Cgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							57.0	60.0	59.0					2																	97530551		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97530551A>G	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.853T>C	2.37:g.97530551A>G	ENSP00000306844:p.Cys285Arg		Somatic					p.C285R	NM_017789.4	NP_060259.4	WXS	Illumina GAIIx	Phase_I	Q9C0C4	SEM4C_HUMAN			9	985	-			285			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.853T>C	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865120	0.71949	.	.	ENSG00000168758	ENST00000305476	D	0.95482	-3.72	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	.	15.433	0.75116	1.0:0.0:0.0:0.0	.	285	Q9C0C4	SEM4C_HUMAN	R	285	ENSP00000306844:C285R	ENSP00000306844:C285R	C	-	1	0	SEMA4C	96894278	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	7.407000	0.80029	2.288000	0.76882	0.533000	0.62120	TGC		0.632	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		4	61	4	61	---	---	---	---
ACKR2	1238	broad.mit.edu	37	3	42906720	42906720	+	Silent	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:42906720C>A	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	242					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGCTGAGGCCCGCAGGCCAGG	0.537																																						ENST00000422265.1																			0											c.(724-726)ccC>ccA		atypical chemokine receptor 2							112.0	113.0	113.0					3																	42906720		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906720C>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.726C>A	3.37:g.42906720C>A			Somatic				RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.P242P|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron	p.P242P	NM_001296.4	NP_001287.2	WXS	Illumina GAIIx	Phase_I					3	901	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.726C>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		4	167	4	167	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:97618049G>C	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2638							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAATACAAATGCTTTTTTGAC	0.358																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2068-2070)tGc>tCc		beta-gamma crystallin domain containing 3							88.0	84.0	85.0					3																	97618049		1817	4086	5903	SO:0001583	missense	131544							g.chr3:97618049G>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2069G>C	3.37:g.97618049G>C	ENSP00000182096:p.Cys690Ser		Somatic					p.C690S	NM_153605.3	NP_705833.3	WXS	Illumina GAIIx	Phase_I					11	2133	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2069G>C		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588472	0.13812	.	.	ENSG00000080200	ENST00000182096	T	0.73152	-0.72	5.86	5.86	0.93980	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.108692	0.41712	D	0.000825	T	0.54549	0.1865	N	0.13327	0.33	0.80722	D	1	B	0.21071	0.051	B	0.23852	0.049	T	0.52771	-0.8531	10	0.06757	T	0.87	.	18.9454	0.92620	0.0:0.0:1.0:0.0	.	690	Q68DQ2	CRBG3_HUMAN	S	690	ENSP00000182096:C690S	ENSP00000182096:C690S	C	+	2	0	CRYBG3	99100739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	2.774000	0.95407	0.585000	0.79938	TGC		0.358	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		25	50	25	50	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:172835445T>C	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTGCTTGTGTTTATCTTTGG	0.433																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(76-78)aAc>aGc		spermatogenesis associated 16							234.0	217.0	222.0					3																	172835445		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835445T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.77A>G	3.37:g.172835445T>C	ENSP00000341765:p.Asn26Ser		Somatic					p.N26S	NM_031955.5	NP_114161.3	WXS	Illumina GAIIx	Phase_I	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	260	-	Ovarian(172;0.00319)|Breast(254;0.197)		26					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.77A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215686	0.58452	.	.	ENSG00000144962	ENST00000351008	T	0.16897	2.31	5.02	5.02	0.67125	.	0.113678	0.40222	N	0.001157	T	0.13243	0.0321	L	0.27053	0.805	0.30859	N	0.733733	B	0.28636	0.218	B	0.25291	0.059	T	0.06752	-1.0809	10	0.59425	D	0.04	-8.3627	13.1337	0.59397	0.0:0.0:0.0:1.0	.	26	Q9BXB7	SPT16_HUMAN	S	26	ENSP00000341765:N26S	ENSP00000341765:N26S	N	-	2	0	SPATA16	174318139	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	3.042000	0.49815	2.096000	0.63516	0.528000	0.53228	AAC		0.433	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	198	7	198	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:48551612C>T	ENST00000503238.1	-	36	4661	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*			O94915	FRYL_HUMAN	FRY-like	1554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTCAGTCGCCAATTAGAAT	0.438																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4660-4662)tgG>tgA		FRY-like							122.0	118.0	119.0					4																	48551612		1955	4138	6093	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48551612C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4662G>A	4.37:g.48551612C>T	ENSP00000426064:p.Trp1554*		Somatic				FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*	p.W1554*			WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			39	5266	-			1554					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.4662G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.037719|15.037719	0.99820|0.99820	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.72269|.	0.3439|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67074|.	-0.5762|.	4|.	.|0.29301	.|T	.|0.29	.|.	19.5353|19.5353	0.95251|0.95251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	425|1554	.|.	.|ENSP00000351113:W1554X	A|W	-|-	1|3	0|0	FRYL|FRYL	48246369|48246369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.461000|7.461000	0.80834|0.80834	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|TGG		0.438	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			28	53	28	53	---	---	---	---
UGT2B7	7364	broad.mit.edu	37	4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:69973826C>A	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	366					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCTAGGTCATCCAAAGACCAG	0.418																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)Cca>Aca		UDP glucuronosyltransferase 2 family, polypeptide B7							87.0	89.0	88.0					4																	69973826		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973826C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1096C>A	4.37:g.69973826C>A	ENSP00000304811:p.Pro366Thr		Somatic				UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	p.P366T	NM_001074.2	NP_001065.2	WXS	Illumina GAIIx	Phase_I	P16662	UD2B7_HUMAN			5	1142	+			366					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1096C>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720781	0.30503	.	.	ENSG00000171234	ENST00000502942;ENST00000305231	T;T	0.68479	-0.33;-0.33	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000001	T	0.80854	0.4703	H	0.96048	3.76	0.80722	D	1	P	0.45986	0.87	P	0.50049	0.629	D	0.86013	0.1502	9	.	.	.	.	11.1821	0.48633	0.0:1.0:0.0:0.0	.	366	P16662	UD2B7_HUMAN	T	117;366	ENSP00000426206:P117T;ENSP00000304811:P366T	.	P	+	1	0	UGT2B7	70008415	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.053000	0.57427	1.516000	0.48900	0.491000	0.48974	CCA		0.418	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		23	82	23	82	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104041395	104041395	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:104041395C>T	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2413	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTCATTAGTCACCTCAAGTT	0.323																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7237-7239)gtG>gtA		centromere protein E, 312kDa							184.0	154.0	164.0					4																	104041395		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041395C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7239G>A	4.37:g.104041395C>T			Somatic				CENPE_ENST00000380026.3_Silent_p.V2292V	p.V2413V	NM_001813.2	NP_001804.2	WXS	Illumina GAIIx	Phase_I	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7328	-			2413			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.7239G>A	CCDS34042.1																																																																																				0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	18	5	18	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	rs199759636		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GACGGCGGGCCGGGCACTGCG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14464	0.0		0.0	False		,,,				2504	0.001					ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(151-153)cCg>cTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						134.0	131.0	132.0					4																	111397722		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397722C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.152C>T	4.37:g.111397722C>T	ENSP00000265162:p.Pro51Leu		Somatic					p.P51L	NM_001977.3	NP_001968.3	WXS	Illumina GAIIx	Phase_I	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	494	+		Hepatocellular(203;0.217)	51					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.152C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990802	0.18966	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	4.8	-1.22	0.09494	.	1.690290	0.03521	N	0.221057	T	0.01353	0.0044	N	0.12182	0.205	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.50197	-0.8856	10	0.20046	T	0.44	.	13.9422	0.64062	0.4785:0.5215:0.0:0.0	.	51	Q07075	AMPE_HUMAN	L	51	ENSP00000265162:P51L	ENSP00000265162:P51L	P	+	2	0	ENPEP	111617171	.	.	0.001000	0.08648	0.007000	0.05969	.	.	-0.457000	0.07033	0.313000	0.20887	CCG		0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			4	149	4	149	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13735947	13735947	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:13735947T>C	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3850					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGTCAAATAAGCCCAGAA	0.453									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11548-11550)ttA>ttG		dynein, axonemal, heavy chain 5							126.0	118.0	120.0					5																	13735947		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735947T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11550A>G	5.37:g.13735947T>C			Somatic					p.L3850L	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			67	11654	-	Lung NSC(4;0.00476)		3850					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11550A>G	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	142	6	142	---	---	---	---
CCNB1	891	broad.mit.edu	37	5	68470883	68470883	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:68470883T>C	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTAAACTTTGGTCTGGGTC	0.438																																						ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(883-885)ttT>ttC		cyclin B1							134.0	138.0	137.0					5																	68470883		2203	4300	6503	SO:0001819	synonymous_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470883T>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.885T>C	5.37:g.68470883T>C			Somatic					p.F295F	NM_031966.3	NP_114172.1	WXS	Illumina GAIIx	Phase_I	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	6	1138	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	295					A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	c.885T>C	CCDS3997.1																																																																																				0.438	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		6	127	6	127	---	---	---	---
KIF20A	10112	broad.mit.edu	37	5	137520549	137520549	+	Silent	SNP	G	G	A	rs114549959		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:137520549G>A	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAACGACAGGAAAAGCTAC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23024	0.0		0.0	False		,,,				2504	0.0					ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1735-1737)caG>caA		kinesin family member 20A							126.0	127.0	127.0					5																	137520549		2203	4300	6503	SO:0001819	synonymous_variant	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520549G>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1737G>A	5.37:g.137520549G>A			Somatic				KIF20A_ENST00000508792.1_Silent_p.Q561Q	p.Q579Q	NM_005733.2	NP_005724.1	WXS	Illumina GAIIx	Phase_I	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		14	1963	+			579					B4DL79|D3DQB6	Silent	SNP	ENST00000394894.3	37	c.1737G>A	CCDS4199.1																																																																																				0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		33	88	33	88	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572701	140572701	+	Silent	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:140572701A>G	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATATATCCAGAGCTAGTGT	0.502																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(574-576)ccA>ccG									120.0	139.0	132.0					5																	140572701		2203	4300	6503	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572701A>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.576A>G	5.37:g.140572701A>G			Somatic					p.P192P	NM_018930.3	NP_061753.1	WXS	Illumina GAIIx	Phase_I	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	760	+			192			Cadherin 2.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.576A>G	CCDS4252.1																																																																																				0.502	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		79	174	79	174	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:176016426C>A	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1035	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAAGCCACCACCACCCTG	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3103-3105)aCc>aAc		cadherin-related family member 2							109.0	103.0	105.0					5																	176016426		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016426C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3104C>A	5.37:g.176016426C>A	ENSP00000424565:p.Thr1035Asn		Somatic				CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	p.T1035N	NM_001171976.1	NP_001165447.1	WXS	Illumina GAIIx	Phase_I	Q9BYE9	CDHR2_HUMAN			23	3378	+			1035			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3104C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	0.312	-0.967429	0.02232	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	4.99	-4.75	0.03239	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21590	0.0520	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	9	0.14656	T	0.56	2.2306	3.8667	0.09019	0.2994:0.4592:0.1306:0.1107	.	1035	Q9BYE9	CDHR2_HUMAN	N	1035	ENSP00000424565:T1035N;ENSP00000261944:T1035N;ENSP00000421078:T1035N	ENSP00000261944:T1035N	T	+	2	0	CDHR2	175949032	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.113000	0.10774	-1.200000	0.02662	-0.408000	0.06270	ACC		0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	111	6	111	---	---	---	---
HIST1H2BN	8341	broad.mit.edu	37	6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:27806651T>G	ENST00000396980.3	+	1	212	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.F71C|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(211-213)tTc>tGc		histone cluster 1, H2bn							160.0	148.0	152.0					6																	27806651		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806651T>G	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.212T>G	6.37:g.27806651T>G	ENSP00000380177:p.Phe71Cys		Somatic				HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C	p.F71C			WXS	Illumina GAIIx	Phase_I	Q99877	H2B1N_HUMAN			1	273	+			71					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.212T>G	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293229	0.60086	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.70282	-0.47;-0.47	4.71	3.57	0.40892	Histone-fold (2);Histone core (1);	0.000000	0.32204	U	0.006433	D	0.86847	0.6031	H	0.98818	4.34	0.32050	N	0.597031	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86101	0.1556	10	0.87932	D	0	.	9.5472	0.39288	0.0:0.0854:0.0:0.9146	.	71;71	Q99877;B2R4S9	H2B1N_HUMAN;.	C	71	ENSP00000446031:F71C;ENSP00000380177:F71C	ENSP00000380177:F71C	F	+	2	0	HIST1H2BN	27914630	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.514000	0.81750	2.052000	0.61016	0.529000	0.55759	TTC		0.607	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		81	168	81	168	---	---	---	---
ZC3H12D	340152	broad.mit.edu	37	6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149773804G>T	ENST00000409806.3	-	5	1053	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	245					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCCTGCTCAGGAAGTTGCTCA	0.612																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(733-735)ttC>ttA		zinc finger CCCH-type containing 12D							35.0	41.0	39.0					6																	149773804		1914	4116	6030	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149773804G>T			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.735C>A	6.37:g.149773804G>T	ENSP00000386616:p.Phe245Leu		Somatic				ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L	p.F245L			WXS	Illumina GAIIx	Phase_I	A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	5	982	-		Ovarian(120;0.0907)	245					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.735C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.249753|4.249753	0.80024|0.80024	.|.	.|.	ENSG00000178199|ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614|ENST00000458251	T;T;T;T|.	0.44482|.	0.92;1.2;0.92;1.27|.	4.6|4.6	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47210|0.47210	0.1433|0.1433	L|L	0.61036|0.61036	1.89|1.89	0.39714|0.39714	D|D	0.971373|0.971373	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75020|.	0.985;0.97|.	T|T	0.46830|0.46830	-0.9163|-0.9163	10|5	0.87932|.	D|.	0|.	-20.3148|-20.3148	7.5599|7.5599	0.27845|0.27845	0.3585:0.0:0.6415:0.0|0.3585:0.0:0.6415:0.0	.|.	245;245|.	A2A288;B7WNU7|.	ZC12D_HUMAN;.|.	L|T	245|87	ENSP00000374592:F245L;ENSP00000408686:F245L;ENSP00000386616:F245L;ENSP00000440813:F245L|.	ENSP00000374592:F245L|.	F|P	-|-	3|1	2|0	ZC3H12D|ZC3H12D	149815497|149815497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.344000|1.344000	0.33941|0.33941	1.095000|1.095000	0.41419|0.41419	0.561000|0.561000	0.74099|0.74099	TTC|CCT		0.612	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		4	15	4	15	---	---	---	---
TMEM139	135932	broad.mit.edu	37	7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577																																						ENST00000359333.3																			0				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7						c.(337-339)cCc>cTc		transmembrane protein 139							73.0	78.0	76.0					7																	142983609		2203	4300	6503	SO:0001583	missense	135932					integral to membrane		g.chr7:142983609C>T	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.338C>T	7.37:g.142983609C>T	ENSP00000352284:p.Pro113Leu		Somatic				AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L	p.P113L	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	WXS	Illumina GAIIx	Phase_I	Q8IV31	TM139_HUMAN			3	851	+	Melanoma(164;0.059)		113					B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	c.338C>T	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584833	0.65992	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.1	5.1	0.69264	.	0.304164	0.29034	N	0.013348	T	0.66416	0.2787	L	0.46157	1.445	0.48452	D	0.99965	D	0.57257	0.979	P	0.59487	0.858	T	0.68689	-0.5342	9	0.72032	D	0.01	-4.26	14.4444	0.67340	0.0:1.0:0.0:0.0	.	113	Q8IV31	TM139_HUMAN	L	113	.	ENSP00000352284:P113L	P	+	2	0	TMEM139	142693731	0.729000	0.28090	0.978000	0.43139	0.533000	0.34776	3.769000	0.55303	2.567000	0.86603	0.558000	0.71614	CCC		0.577	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		50	100	50	100	---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:150417391A>C	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	100	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(298-300)gAg>gCg		GTPase, IMAP family member 1							51.0	46.0	48.0					7																	150417391		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417391A>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.299A>C	7.37:g.150417391A>C	ENSP00000302833:p.Glu100Ala		Somatic					p.E100A	NM_130759.3	NP_570115.1	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	439	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.299A>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658249	0.47467	.	.	ENSG00000213203	ENST00000307194	T	0.08634	3.07	4.72	0.906	0.19314	AIG1 (1);	0.357678	0.24769	U	0.035755	T	0.18509	0.0444	M	0.88310	2.945	0.09310	N	1	P	0.38642	0.641	P	0.48488	0.579	T	0.10636	-1.0621	10	0.56958	D	0.05	.	3.07	0.06227	0.6256:0.0:0.1971:0.1773	.	100	Q8WWP7	GIMA1_HUMAN	A	100	ENSP00000302833:E100A	ENSP00000302833:E100A	E	+	2	0	GIMAP1	150048324	0.098000	0.21812	0.000000	0.03702	0.009000	0.06853	2.713000	0.47194	0.010000	0.14839	-0.290000	0.09829	GAG		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		8	70	8	70	---	---	---	---
PDGFRL	5157	broad.mit.edu	37	8	17447026	17447026	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:17447026G>A	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	35					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACCAGGAGAGAATAGAATCA	0.433																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(103-105)gaG>gaA		platelet-derived growth factor receptor-like							143.0	145.0	144.0					8																	17447026		2203	4300	6503	SO:0001819	synonymous_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447026G>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.105G>A	8.37:g.17447026G>A			Somatic				PDGFRL_ENST00000398074.3_Silent_p.E35E|PDGFRL_ENST00000251630.6_Silent_p.E35E	p.E35E	NM_006207.2	NP_006198.1	WXS	Illumina GAIIx	Phase_I	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	550	+			35					A8K085|Q6FH04	Silent	SNP	ENST00000541323.1	37	c.105G>A	CCDS6003.1																																																																																				0.433	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		16	161	16	161	---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70978696	70978696	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:70978696T>C	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	319	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCCCGTACCTCCTTTTCCAT	0.403																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(955-957)ggA>ggG		PR domain containing 14							114.0	115.0	114.0					8																	70978696		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978696T>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.957A>G	8.37:g.70978696T>C			Somatic					p.G319G	NM_024504.3	NP_078780.1	WXS	Illumina GAIIx	Phase_I	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1158	-	Breast(64;0.193)		319			SET.		Q86UX9	Silent	SNP	ENST00000276594.2	37	c.957A>G	CCDS6206.1																																																																																				0.403	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			3	181	3	181	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113249577	113249577	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:113249577A>G	ENST00000297405.5	-	67	10713	c.10469T>C	c.(10468-10470)gTt>gCt	p.V3490A	CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A|CSMD3_ENST00000343508.3_Splice_Site_p.V3450A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3490						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCAGGAACTGTGAATAG	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10468-10470)gTt>gCt		CUB and Sushi multiple domains 3							95.0	90.0	92.0					8																	113249577		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113249577A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10469-1T>C	8.37:g.113249577A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Splice_Site_p.V3450A|CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A	p.V3490A	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			67	10713	-			3490					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10469T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614423	0.28712	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.34472	1.68;1.67;1.74;1.36;1.73	4.77	4.77	0.60923	.	0.088428	0.45126	D	0.000386	T	0.57710	0.2072	M	0.71206	2.165	0.49051	D	0.999746	D;D;B	0.67145	0.996;0.995;0.175	D;D;B	0.72625	0.941;0.978;0.084	T	0.59172	-0.7504	10	0.44086	T	0.13	.	14.4524	0.67394	1.0:0.0:0.0:0.0	.	3321;3490;3450	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3450;3490;2760;3321;3420	ENSP00000345799:V3450A;ENSP00000297405:V3490A;ENSP00000341558:V2760A;ENSP00000412263:V3321A;ENSP00000343124:V3420A	ENSP00000297405:V3490A	V	-	2	0	CSMD3	113318753	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	9.109000	0.94291	1.996000	0.58369	0.383000	0.25322	GTT		0.284	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	5	43	5	43	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32543932	32543932	+	Silent	SNP	A	A	C	rs546261326		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:32543932A>C	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	197	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTTCACAGGACCACTAGGTG	0.443																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(589-591)ggT>ggG		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							121.0	107.0	112.0					9																	32543932		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543932A>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.591T>G	9.37:g.32543932A>C			Somatic				TOPORS_ENST00000379858.1_Silent_p.G132G	p.G197G	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	707	-			197			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.591T>G	CCDS6527.1																																																																																				0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	58	7	58	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587261G>T	ENST00000320301.6	-	32	4653	c.4259C>A	c.(4258-4260)cCc>cAc	p.P1420H	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1427H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTAGCCGCGGGTAATGCGGC	0.547										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4279-4281)cCc>cAc		protocadherin-related 15							83.0	87.0	85.0					10																	55587261		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587261G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4259C>A	10.37:g.55587261G>T	ENSP00000322604:p.Pro1420His	HNSCC(58;0.16)	Somatic				PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H	p.P1427H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			33	4674	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1420					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4280C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898039	0.72639	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;D	0.81821	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;-1.54	5.5	5.5	0.81552	.	.	.	.	.	D	0.85186	0.5639	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;0.999;0.998;0.999;0.998;0.998;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.79784	0.95;0.95;0.95;0.95;0.993;0.95;0.95;0.94;0.935;0.935;0.959;0.968;0.95	D	0.86486	0.1794	9	0.87932	D	0	.	17.5349	0.87827	0.0:0.0:1.0:0.0	.	1395;1420;1420;1425;1349;1380;1417;1420;1427;1427;1420;1422;1420	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1427;1422;1420;1420;1031;1427;1380;1420;1395;1420;1417;1425;1349	ENSP00000363076:P1427H;ENSP00000410304:P1422H;ENSP00000378826:P1420H;ENSP00000386693:P1031H;ENSP00000378832:P1427H;ENSP00000378820:P1380H;ENSP00000354950:P1420H;ENSP00000378821:P1395H;ENSP00000322604:P1420H;ENSP00000378818:P1417H;ENSP00000412628:P1349H	ENSP00000322604:P1420H	P	-	2	0	PCDH15	55257267	1.000000	0.71417	0.071000	0.20095	0.417000	0.31264	8.670000	0.91168	2.739000	0.93911	0.491000	0.48974	CCC		0.547	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	85	28	85	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105900659	105900659	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:105900659A>G	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H|WDR96_ENST00000479392.1_5'UTR	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCATCAGAATACTCCAGTACT	0.318																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4372-4374)Tat>Cat		WD repeat domain 96							86.0	83.0	84.0					10																	105900659		2203	4299	6502	SO:0001583	missense	80217							g.chr10:105900659A>G																												ENST00000357060.3:c.4372T>C	10.37:g.105900659A>G	ENSP00000349568:p.Tyr1458His		Somatic				WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	p.Y1458H	NM_025145.5	NP_079421.5	WXS	Illumina GAIIx	Phase_I	Q8NDM7	WDR96_HUMAN			34	4487	-			1458						Missense_Mutation	SNP	ENST00000357060.3	37	c.4372T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682901	0.47991	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.18016	2.24;2.31	5.44	5.44	0.79542	.	0.136179	0.51477	D	0.000088	T	0.36552	0.0971	M	0.69823	2.125	0.20638	N	0.999875	P;D	0.64830	0.937;0.994	P;P	0.61132	0.71;0.884	T	0.21655	-1.0239	10	0.39692	T	0.17	.	13.7265	0.62761	1.0:0.0:0.0:0.0	.	1430;1458	G5E9L1;Q8NDM7	.;WDR96_HUMAN	H	1458;1430	ENSP00000349568:Y1458H;ENSP00000400289:Y1430H	ENSP00000349568:Y1458H	Y	-	1	0	WDR96	105890649	0.999000	0.42202	0.276000	0.24689	0.363000	0.29612	6.833000	0.75334	2.069000	0.61940	0.533000	0.62120	TAT		0.318	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	29	12	29	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44100335	44100335	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:44100335G>T	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.?(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGCCAAGAGGTGAGGCACCC	0.577																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			2	Unknown(2)	p.?(2)	lung(2)	breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.e9+1		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							58.0	48.0	51.0					11																	44100335		2203	4300	6503	SO:0001630	splice_region_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44100335G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.833+1G>T	11.37:g.44100335G>T			Somatic						NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	WXS	Illumina GAIIx	Phase_I	Q96QU6	1A1L1_HUMAN			9	1267	+								B4E219|Q8WUL4|Q96LX5	Splice_Site	SNP	ENST00000263776.8	37		CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431736	0.83776	.	.	ENSG00000110455	ENST00000263776	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.679	0.88237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCS	44056911	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.594000	0.90836	2.695000	0.91970	0.655000	0.94253	.		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	Intron	11	27	11	27	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:53238345T>G	ENST00000304620.4	-	5	982	c.919A>C	c.(919-921)Aag>Cag	p.K307Q	KRT78_ENST00000359499.4_Missense_Mutation_p.K197Q	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACCACCTTGGTCTGGTAC	0.617																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(589-591)Aag>Cag		keratin 78							114.0	90.0	98.0					12																	53238345		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238345T>G	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.919A>C	12.37:g.53238345T>G	ENSP00000306261:p.Lys307Gln		Somatic				KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q	p.K197Q			WXS	Illumina GAIIx	Phase_I	Q8N1N4	K2C78_HUMAN			5	600	-			307			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.589A>C	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052793	0.55218	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.90732	-2.72;-2.72	5.07	3.91	0.45181	Filament (1);	.	.	.	.	D	0.92506	0.7620	M	0.78637	2.42	0.31897	N	0.616503	P	0.48834	0.916	P	0.51974	0.686	D	0.91999	0.5609	9	0.66056	D	0.02	.	10.0599	0.42268	0.0:0.0:0.1693:0.8307	.	307	Q8N1N4	K2C78_HUMAN	Q	197;307;78	ENSP00000352479:K197Q;ENSP00000306261:K307Q	ENSP00000306261:K307Q	K	-	1	0	KRT78	51524612	0.994000	0.37717	0.997000	0.53966	0.107000	0.19398	2.292000	0.43549	0.857000	0.35407	0.460000	0.39030	AAG		0.617	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		35	111	35	111	---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:110383093G>T	ENST00000355312.3	-	16	1702	c.1703C>A	c.(1702-1704)tCc>tAc	p.S568Y	GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S518Y|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000457474.2_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	568					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTCGACCAGGAAAGTGTGGA	0.547																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1552-1554)tCc>tAc		G protein-coupled receptor kinase interacting ArfGAP 2							63.0	58.0	60.0					12																	110383093		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110383093G>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1703C>A	12.37:g.110383093G>T	ENSP00000347464:p.Ser568Tyr		Somatic				GIT2_ENST00000457474.2_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y	p.S518Y	NM_014776.3	NP_055591.2	WXS	Illumina GAIIx	Phase_I	Q14161	GIT2_HUMAN			15	1717	-			568					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1553C>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801988	0.31869	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000338373;ENST00000551209	T;T;T;T	0.74315	-0.74;-0.8;-0.64;-0.83	5.82	4.91	0.64330	.	0.100313	0.64402	D	0.000001	T	0.69052	0.3068	L	0.34521	1.04	0.80722	D	1	B	0.33477	0.413	B	0.38296	0.27	T	0.69628	-0.5094	10	0.51188	T	0.08	.	15.8711	0.79119	0.0:0.1357:0.8643:0.0	.	568	Q14161	GIT2_HUMAN	Y	568;518;470;517	ENSP00000347464:S568Y;ENSP00000353312:S518Y;ENSP00000340342:S470Y;ENSP00000448832:S517Y	ENSP00000340342:S470Y	S	-	2	0	GIT2	108867476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.412000	0.59787	1.421000	0.47157	0.655000	0.94253	TCC		0.547	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		14	25	14	25	---	---	---	---
SEPHS2	22928	broad.mit.edu	37	16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30456028T>C	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	341					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGATTATGAATAACAAAGGAC	0.473																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1021-1023)Att>Gtt		selenophosphate synthetase 2							84.0	78.0	80.0					16																	30456028		1900	4127	6027	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456028T>C	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1021A>G	16.37:g.30456028T>C	ENSP00000418669:p.Ile341Val		Somatic				SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V	p.I341V			WXS	Illumina GAIIx	Phase_I	Q99611	SPS2_HUMAN			1	1474	-			341					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1021A>G		.	.	.	.	.	.	.	.	.	.	T	15.15	2.748105	0.49257	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.16897	2.31;2.31;2.31	4.75	3.64	0.41730	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	M	0.64567	1.98	0.80722	D	1	D;P	0.65815	0.995;0.805	D;P	0.70935	0.971;0.608	T	0.03315	-1.1049	10	0.52906	T	0.07	-16.332	10.0363	0.42131	0.0:0.0:0.1699:0.8301	.	341;284	Q99611;F5H8F9	SPS2_HUMAN;.	V	341;284;292;341	ENSP00000418669:I341V;ENSP00000443601:I284V;ENSP00000426234:I341V	ENSP00000390233:I292V	I	-	1	0	SEPHS2	30363529	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.792000	0.85828	0.944000	0.37579	-0.316000	0.08728	ATT		0.473	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		4	64	4	64	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30522404C>G	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGGAGGACAACTCAGCCACTA	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2731-2733)aaC>aaG		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						199.0	171.0	181.0					16																	30522404		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30522404C>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2733C>G	16.37:g.30522404C>G	ENSP00000349252:p.Asn911Lys		Somatic				ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K|ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K	p.N911K	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			24	2913	+			911					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2733C>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914074	0.33815	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.54866	0.55;0.55;0.55	5.0	0.192	0.15134	Integrin alpha-2 (1);	0.000000	0.56097	D	0.000033	T	0.65943	0.2740	M	0.76574	2.34	0.41032	D	0.985161	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	0.999;1.0;0.978	T	0.64931	-0.6291	10	0.66056	D	0.02	.	7.8746	0.29586	0.0:0.5844:0.0:0.4156	.	145;827;911	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	K	911;827;145	ENSP00000349252:N911K;ENSP00000350886:N827K;ENSP00000409377:N145K	ENSP00000349252:N911K	N	+	3	2	ITGAL	30429905	0.061000	0.20836	0.362000	0.25862	0.292000	0.27327	0.079000	0.14782	0.169000	0.19679	0.555000	0.69702	AAC		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			18	163	18	163	---	---	---	---
ZNF773	374928	broad.mit.edu	37	19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGAAGTCACATAGGAGCTCC	0.468																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(523-525)cAt>cGt		zinc finger protein 773							46.0	47.0	47.0					19																	58017987		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017987A>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.524A>G	19.37:g.58017987A>G	ENSP00000282292:p.His175Arg		Somatic				ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	p.H175R	NM_198542.1	NP_940944.1	WXS	Illumina GAIIx	Phase_I	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	664	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	175					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.524A>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	5.615	0.298142	0.10622	.	.	ENSG00000152439	ENST00000282292	T	0.15603	2.41	1.81	0.72	0.18214	.	.	.	.	.	T	0.12092	0.0294	L	0.52573	1.65	0.09310	N	1	P;B	0.39282	0.666;0.294	B;B	0.33690	0.168;0.026	T	0.25398	-1.0133	9	0.87932	D	0	.	1.7732	0.03016	0.534:0.0:0.186:0.28	.	174;175	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	R	175	ENSP00000282292:H175R	ENSP00000282292:H175R	H	+	2	0	ZNF773	62709799	0.000000	0.05858	0.003000	0.11579	0.126000	0.20510	-1.361000	0.02597	-0.003000	0.14444	0.260000	0.18958	CAT		0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		7	16	7	16	---	---	---	---
WISP2	8839	broad.mit.edu	37	20	43355879	43355879	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:43355879G>A	ENST00000372868.2	+	5	1027	c.684G>A	c.(682-684)caG>caA	p.Q228Q	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Missense_Mutation_p.S146N|WISP2_ENST00000190983.4_Silent_p.Q228Q			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	228	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				TGGAGACCCAGCGCCGCCTGT	0.672																																						ENST00000372865.4																			0				skin(1)	1						c.(436-438)aGc>aAc		WNT1 inducible signaling pathway protein 2							31.0	33.0	32.0					20																	43355879		2203	4300	6503	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355879G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.684G>A	20.37:g.43355879G>A			Somatic				RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.Q228Q|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372868.2_Silent_p.Q228Q	p.S146N			WXS	Illumina GAIIx	Phase_I	O76076	WISP2_HUMAN			3	945	+		Myeloproliferative disorder(115;0.0122)	142			VWFC.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.437G>A	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175015	0.38413	.	.	ENSG00000064205	ENST00000372865	T	0.67523	-0.27	4.05	0.67	0.17923	.	.	.	.	.	T	0.54549	0.1865	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.52726	-0.8537	8	0.87932	D	0	-45.6268	8.428	0.32739	0.3721:0.0:0.6279:0.0	.	146	Q6PEG3	.	N	146	ENSP00000361956:S146N	ENSP00000361956:S146N	S	+	2	0	WISP2	42789293	0.972000	0.33761	0.915000	0.36163	0.643000	0.38383	1.614000	0.36911	0.348000	0.23949	0.561000	0.74099	AGC		0.672	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		16	27	16	27	---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52198352	52198352	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:52198352C>T	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	338					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAACTGCCCTTATTTGTTT	0.542																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1012-1014)aaG>aaA		zinc finger protein 217							125.0	127.0	126.0					20																	52198352		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198352C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1014G>A	20.37:g.52198352C>T			Somatic				ZNF217_ENST00000302342.3_Silent_p.K338K	p.K338K			WXS	Illumina GAIIx	Phase_I	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1439	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		338					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.1014G>A	CCDS13443.1																																																																																				0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		14	112	14	112	---	---	---	---
BCR	613	broad.mit.edu	37	22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000398512.5_Missense_Mutation_p.Y283C|BCR_ENST00000359540.3_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CAGAGCATCTACGTCGGGGGC	0.657			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(847-849)tAc>tGc		breakpoint cluster region							21.0	25.0	24.0					22																	23523995		2202	4297	6499	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523995A>G		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.848A>G	22.37:g.23523995A>G	ENSP00000303507:p.Tyr283Cys		Somatic				BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	p.Y283C	NM_004327.3	NP_004318.3	WXS	Illumina GAIIx	Phase_I	P11274	BCR_HUMAN			1	1599	+			283			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.848A>G	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759921	0.69763	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.61158	1.05;0.97;0.13	4.67	3.55	0.40652	.	0.232289	0.36703	N	0.002452	T	0.66723	0.2818	L	0.52573	1.65	0.47659	D	0.999482	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.924	T	0.68534	-0.5383	10	0.87932	D	0	.	8.4853	0.33067	0.8273:0.0:0.0:0.1727	.	283;283	P11274-2;P11274	.;BCR_HUMAN	C	283	ENSP00000303507:Y283C;ENSP00000352535:Y283C;ENSP00000381524:Y283C	ENSP00000290956:Y283C	Y	+	2	0	BCR	21853995	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	5.126000	0.64721	1.876000	0.54355	0.455000	0.32223	TAC		0.657	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		8	36	8	36	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179343217	179343217	+	5'Flank	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)accfs		FK506 binding protein 7							113.0	133.0	127.0					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered		Somatic				FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	WXS	Illumina GAIIx	Phase_I	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		7	303	7	303	---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:128696988delT	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gaafs	p.E236fs	KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(706-708)gaafs		KIAA1257							136.0	130.0	132.0					3																	128696988		1876	4099	5975	SO:0001589	frameshift_variant	57501							g.chr3:128696988delT	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.708delA	3.37:g.128696988delT	ENSP00000265068:p.Glu236fs		Somatic				KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR	p.E236fs	NM_020741.2	NP_065792.1	WXS	Illumina GAIIx	Phase_I	Q9ULG3	K1257_HUMAN			5	875	-			236					Q8IXY7|Q8N5T4	Frame_Shift_Del	DEL	ENST00000265068.5	37	c.708delA	CCDS46905.1																																																																																				0.358	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		7	66	7	66	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chrX:44969453delA	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aaafs	p.K1379fs	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1379					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAACAGTACAAAATGGAGGA	0.388			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		9	Whole gene deletion(6)|Complex(2)|Complex - frameshift(1)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)	central_nervous_system(3)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(4135-4137)aaafs		lysine (K)-specific demethylase 6A							140.0	130.0	133.0					X																	44969453		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969453delA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4135delA	X.37:g.44969453delA	ENSP00000367203:p.Lys1379fs		Somatic				KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000479423.1_3'UTR	p.K1379fs	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	O15550	KDM6A_HUMAN			28	4176	+			1379					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.4135delA	CCDS14265.1																																																																																				0.388	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		63	22	63	22	---	---	---	---
