#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
POLL	27343	hgsc.bcm.edu;broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000339310.3_Silent_p.S54S|DPCD_ENST00000416979.2_Intron|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_3'UTR	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0															0								G	,,	2,4404	4.2+/-10.8	0,2,2201	116.0	94.0	101.0		993,717,993	-7.0	0.1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	331/576,239/484,331/576	103343337	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.993C>T	10.37:g.103343337G>A			D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	CCDS7513.1																																																																																				0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		7	88	7	88
GPR162	27239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	6933475	6933475	+	Silent	SNP	C	C	T	rs146153056		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:6933475C>T	ENST00000311268.3	+	2	1198	c.411C>T	c.(409-411)gcC>gcT	p.A137A	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CACTGCATGCCGTCATGGGCA	0.617																																																0													91.0	77.0	82.0					12																	6933475		2203	4300	6503	SO:0001819	synonymous_variant	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.411C>T	12.37:g.6933475C>T			Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	CCDS8563.1																																																																																				0.617	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		28	61	28	61
FREM2	341640	hgsc.bcm.edu;broad.mit.edu	37	13	39265629	39265629	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:39265629T>C	ENST00000280481.7	+	1	4364	c.4148T>C	c.(4147-4149)gTc>gCc	p.V1383A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1383					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGTATGTCCATTTGGGG	0.413																																																0													101.0	93.0	95.0					13																	39265629		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4148T>C	13.37:g.39265629T>C	ENSP00000280481:p.Val1383Ala		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	0.114	-1.134552	0.01742	.	.	ENSG00000150893	ENST00000280481	T	0.37752	1.18	5.81	4.65	0.58169	.	0.236560	0.42548	D	0.000688	T	0.25457	0.0619	L	0.46741	1.465	0.22001	N	0.999426	B	0.09022	0.002	B	0.10450	0.005	T	0.21930	-1.0231	10	0.09590	T	0.72	.	6.5438	0.22394	0.1384:0.0721:0.0:0.7895	.	1383	Q5SZK8	FREM2_HUMAN	A	1383	ENSP00000280481:V1383A	ENSP00000280481:V1383A	V	+	2	0	FREM2	38163629	0.255000	0.24002	0.997000	0.53966	0.800000	0.45204	1.307000	0.33516	2.217000	0.71921	0.533000	0.62120	GTC		0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		11	184	11	184
RFX7	64864	hgsc.bcm.edu;broad.mit.edu	37	15	56387426	56387426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:56387426G>A	ENST00000559447.2	-	9	2480	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.Q834*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	737					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGTAGCTGCTGGCTATAT	0.393																																																0													117.0	115.0	116.0					15																	56387426		1899	4127	6026	SO:0001587	stop_gained	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2209C>T	15.37:g.56387426G>A	ENSP00000453281:p.Gln737*		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.085769	0.97271	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.9433	18.2487	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	737;834;834	.	ENSP00000313299:Q834X	Q	-	1	0	RFX7	54174718	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.081000	0.64444	2.531000	0.85337	0.563000	0.77884	CAG		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		8	149	8	149
EFTUD1	79631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	82554109	82554109	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:82554109T>C	ENST00000268206.7	-	2	179	c.11A>G	c.(10-12)aAc>aGc	p.N4S	FAM154B_ENST00000427381.2_5'Flank|FAM154B_ENST00000565432.1_5'Flank|FAM154B_ENST00000566861.1_5'Flank|EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S|FAM154B_ENST00000339465.5_5'Flank|FAM154B_ENST00000566205.1_5'Flank	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	4					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAAACTGTTGAGCACCAT	0.333																																																0													130.0	113.0	118.0					15																	82554109		1823	4090	5913	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.11A>G	15.37:g.82554109T>C	ENSP00000268206:p.Asn4Ser		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	7.348	0.622275	0.14193	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.62498	0.02;0.3	3.71	0.0756	0.14399	.	1.186530	0.06266	N	0.694762	T	0.43942	0.1270	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21759	-1.0236	10	0.34782	T	0.22	-11.2612	0.5891	0.00725	0.2635:0.3081:0.1444:0.2841	.	4;4	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	S	4	ENSP00000268206:N4S;ENSP00000352418:N4S	ENSP00000268206:N4S	N	-	2	0	EFTUD1	80341164	0.036000	0.19791	0.809000	0.32408	0.870000	0.49936	0.168000	0.16622	-0.167000	0.10871	0.438000	0.28831	AAC		0.333	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		23	110	23	110
DNAH2	146754	hgsc.bcm.edu;broad.mit.edu	37	17	7708392	7708392	+	Splice_Site	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7708392G>A	ENST00000572933.1	+	60	10760	c.9300G>A	c.(9298-9300)cgG>cgA	p.R3100R	DNAH2_ENST00000389173.2_Splice_Site_p.R3100R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3100	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCATGCGGGTACCAGGGG	0.582																																																0													47.0	54.0	52.0					17																	7708392		2203	4300	6503	SO:0001630	splice_region_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9300+1G>A	17.37:g.7708392G>A			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Silent	4	72	4	72
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10303716	10303716	+	Silent	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:10303716G>A	ENST00000403437.2	-	27	3820	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1242					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGCTTTGGAAATGGCCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													192.0	183.0	186.0					17																	10303716		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3726C>T	17.37:g.10303716G>A			Q14910	Silent	SNP	ENST00000403437.2	37	CCDS11153.1																																																																																				0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		82	227	82	227
SLC25A39	51629	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	42399117	42399117	+	Missense_Mutation	SNP	C	C	T	rs368381651		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:42399117C>T	ENST00000377095.5	-	6	462	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M|SLC25A39_ENST00000225308.8_Missense_Mutation_p.V107M|SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	115					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGCCTCACGATCTTCACG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18314	0.0		0.001	False		,,,				2504	0.0															0													47.0	47.0	47.0					17																	42399117		2203	4300	6503	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.343G>A	17.37:g.42399117C>T	ENSP00000366299:p.Val115Met		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612297	0.46631	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80566	-1.39;-1.39;-1.39	5.38	4.35	0.52113	Mitochondrial carrier domain (2);	0.122041	0.53938	D	0.000056	T	0.64349	0.2590	L	0.35644	1.08	0.30215	N	0.797322	B;P;P;B;P	0.41546	0.37;0.754;0.484;0.283;0.676	B;B;B;B;B	0.34489	0.082;0.184;0.067;0.094;0.06	T	0.63849	-0.6544	10	0.33940	T	0.23	-25.877	4.722	0.12922	0.0:0.7355:0.0:0.2645	.	100;107;92;115;107	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	M	107;115;92	ENSP00000225308:V107M;ENSP00000366299:V115M;ENSP00000444540:V92M	ENSP00000225308:V107M	V	-	1	0	SLC25A39	39754643	0.017000	0.18338	1.000000	0.80357	0.843000	0.47879	1.553000	0.36255	2.793000	0.96121	0.655000	0.94253	GTG		0.637	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		13	41	13	41
CACNA1G	8913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	48652951	48652951	+	Silent	SNP	G	G	A	rs201089692	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:48652951G>A	ENST00000359106.5	+	8	1188	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000352832.5_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	396					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATTGCCACGCAGTTCTCAG	0.572																																																0													44.0	46.0	46.0					17																	48652951		2167	4270	6437	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1188G>A	17.37:g.48652951G>A			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																				0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		29	60	29	60
HAS1	3036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	52220383	52220383	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:52220383C>T	ENST00000222115.1	-	3	800	c.766G>A	c.(766-768)Gag>Aag	p.E256K	HAS1_ENST00000601714.1_Missense_Mutation_p.E263K|HAS1_ENST00000540069.2_Missense_Mutation_p.E255K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	256					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622																																					NSCLC(132;636 2450 45807 47979)											0													74.0	73.0	73.0					19																	52220383		2203	4300	6503	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.766G>A	19.37:g.52220383C>T	ENSP00000222115:p.Glu256Lys		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	12.61	1.990226	0.35131	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59638	0.25;0.25	4.32	4.32	0.51571	.	0.344745	0.29544	U	0.011842	T	0.35335	0.0928	N	0.20807	0.61	0.25133	N	0.990553	P;P;P	0.43412	0.589;0.806;0.806	B;B;B	0.33690	0.105;0.168;0.168	T	0.25117	-1.0141	10	0.33940	T	0.23	-13.7537	10.0815	0.42393	0.2009:0.7991:0.0:0.0	.	255;256;255	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	K	255;256;113;110	ENSP00000445021:E255K;ENSP00000222115:E256K	ENSP00000222115:E256K	E	-	1	0	HAS1	56912195	0.005000	0.15991	0.999000	0.59377	0.665000	0.39181	1.869000	0.39519	2.133000	0.65898	0.489000	0.48404	GAG		0.622	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		16	94	16	94
CLIC4	25932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	25140630	25140630	+	Silent	SNP	A	A	G			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:25140630A>G	ENST00000374379.4	+	3	425	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	76	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCCACCCACCATTTATAACTT	0.398																																																0													78.0	83.0	81.0					1																	25140630		2203	4300	6503	SO:0001819	synonymous_variant	25932			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.228A>G	1.37:g.25140630A>G			Q9UFW9|Q9UQJ6	Silent	SNP	ENST00000374379.4	37	CCDS256.1																																																																																				0.398	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		13	87	13	87
GEMIN6	79833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	39008705	39008705	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:39008705G>A	ENST00000281950.3	+	3	291	c.175G>A	c.(175-177)Gga>Aga	p.G59R	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	59					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GTCTGTGACCGGAATTATGGG	0.443																																																0													109.0	106.0	107.0					2																	39008705		2203	4300	6503	SO:0001583	missense	79833			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.175G>A	2.37:g.39008705G>A	ENSP00000281950:p.Gly59Arg		B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852784	0.91355	.	.	ENSG00000152147	ENST00000281950	T	0.48201	0.82	5.52	5.52	0.82312	.	0.110731	0.64402	D	0.000013	T	0.59609	0.2206	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.52457	-0.8573	10	0.28530	T	0.3	-23.4025	19.0196	0.92908	0.0:0.0:1.0:0.0	.	59	Q8WXD5	GEMI6_HUMAN	R	59	ENSP00000281950:G59R	ENSP00000281950:G59R	G	+	1	0	GEMIN6	38862209	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	5.998000	0.70653	2.604000	0.88044	0.591000	0.81541	GGA		0.443	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			37	113	37	113
UXS1	80146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	106746145	106746145	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:106746145T>C	ENST00000409501.3	-	7	604	c.547A>G	c.(547-549)Aca>Gca	p.T183A	UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.T188A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	183					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTTTAATGTCCCAATCGTA	0.378																																																0													115.0	108.0	110.0					2																	106746145		1862	4105	5967	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.547A>G	2.37:g.106746145T>C	ENSP00000387019:p.Thr183Ala		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.498140	0.64186	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000416298;ENST00000444193;ENST00000457835;ENST00000436241	D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.85	5.85	0.93711	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	D	0.93028	0.6446	10	0.16420	T	0.52	-8.9369	16.2303	0.82332	0.0:0.0:0.0:1.0	.	188;183	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	A	188;126;183;15;15;15;126;15	ENSP00000283148:T188A;ENSP00000438265:T126A;ENSP00000387019:T183A;ENSP00000387096:T15A;ENSP00000403612:T15A;ENSP00000404468:T15A;ENSP00000399316:T126A;ENSP00000397049:T15A	ENSP00000283148:T188A	T	-	1	0	UXS1	106112577	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.583000	0.82559	2.233000	0.73108	0.533000	0.62120	ACA		0.378	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		15	26	15	26
NCKAP5	344148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	133721292	133721292	+	Splice_Site	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:133721292C>T	ENST00000409261.1	-	8	953		c.e8+1		NCKAP5_ENST00000317721.6_Splice_Site|NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000409213.1_Splice_Site	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5									p.?(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTCTTACCTCTAGAGCT	0.368																																																2	Unknown(2)	lung(2)											134.0	129.0	130.0					2																	133721292		1836	4099	5935	SO:0001630	splice_region_variant	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.579+1G>A	2.37:g.133721292C>T			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Splice_Site	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443110	0.63067	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0473	0.80727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5	133437762	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.976000	0.63785	2.826000	0.97356	0.655000	0.94253	.		0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	Intron	14	54	14	54
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			37	77	37	77
MAATS1	89876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	119465994	119465994	+	Silent	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:119465994C>T	ENST00000273390.5	+	15	2012	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	481						mitochondrion (GO:0005739)											CTATAAGCTCCTACCTAGAAG	0.373																																																0													108.0	105.0	106.0					3																	119465994		2203	4300	6503	SO:0001819	synonymous_variant	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1935C>T	3.37:g.119465994C>T			A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	CCDS2994.1																																																																																				0.373	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		16	113	16	113
KIAA0922	23240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	154542876	154542876	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:154542876T>A	ENST00000409663.3	+	28	3783	c.3731T>A	c.(3730-3732)tTt>tAt	p.F1244Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409959.3_Missense_Mutation_p.F1245Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1244						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGTGACTTTGAGAGGTCT	0.433																																																0													145.0	136.0	139.0					4																	154542876		2203	4300	6503	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3731T>A	4.37:g.154542876T>A	ENSP00000386574:p.Phe1244Tyr		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	8.667	0.901841	0.17760	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18502	2.48;2.21;2.48;2.21	5.13	3.91	0.45181	.	1.296400	0.04557	N	0.390999	T	0.13372	0.0324	L	0.33485	1.01	0.09310	N	1	B;B;B	0.28082	0.2;0.005;0.003	B;B;B	0.28465	0.09;0.011;0.005	T	0.32903	-0.9889	10	0.02654	T	1	-2.2201	8.3297	0.32178	0.1308:0.0:0.1368:0.7324	.	1161;1245;1244	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1244;1161;1245;1022	ENSP00000386574:F1244Y;ENSP00000409663:F1161Y;ENSP00000386787:F1245Y;ENSP00000240487:F1022Y	ENSP00000240487:F1022Y	F	+	2	0	KIAA0922	154762326	0.993000	0.37304	0.001000	0.08648	0.581000	0.36288	2.599000	0.46231	0.754000	0.32968	0.533000	0.62120	TTT		0.433	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		9	62	9	62
GIMAP5	55340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150439641	150439641	+	Silent	SNP	T	T	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:150439641T>C	ENST00000358647.3	+	3	781	c.414T>C	c.(412-414)ttT>ttC	p.F138F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	138	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGGTCTTTGGGACAGGGG	0.582																																																0													88.0	85.0	86.0					7																	150439641		2203	4300	6503	SO:0001819	synonymous_variant	55340			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.414T>C	7.37:g.150439641T>C			D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	CCDS5907.1																																																																																				0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		16	136	16	136
ASAP1	50807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	131370312	131370312	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:131370312A>C	ENST00000518721.1	-	3	364	c.137T>G	c.(136-138)tTc>tGc	p.F46C	ASAP1_ENST00000357668.1_Missense_Mutation_p.F46C|ASAP1_ENST00000520625.1_5'Flank	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	46					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGCGTGGTGAAGCTGGACGT	0.677																																																0													104.0	75.0	85.0					8																	131370312		2202	4300	6502	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.137T>G	8.37:g.131370312A>C	ENSP00000429900:p.Phe46Cys		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824489	0.90955	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000521426	T;T	0.26810	1.71;1.71	4.34	4.34	0.51931	.	0.358348	0.28393	U	0.015509	T	0.54935	0.1889	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63475	-0.6629	10	0.87932	D	0	.	12.6811	0.56922	1.0:0.0:0.0:0.0	.	46;46	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	C	46;46;46;39	ENSP00000350297:F46C;ENSP00000429900:F46C	ENSP00000344591:F46C	F	-	2	0	ASAP1	131439494	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.378000	0.90144	1.586000	0.49944	0.260000	0.18958	TTC		0.677	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		9	35	9	35
NOL6	65083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	33467861	33467861	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:33467861C>T	ENST00000379471.2	-	12	1517	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R425H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	477					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACTCAGTGGACGGAGACTGGA	0.602																																																0													23.0	25.0	24.0					9																	33467861		2203	4298	6501	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1430G>A	9.37:g.33467861C>T	ENSP00000368784:p.Arg477His		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	C	0.141	-1.102154	0.01828	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.62	-0.943	0.10395	.	0.792260	0.12748	N	0.442387	T	0.30039	0.0752	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.005;0.005;0.005;0.006	B;B;B;B;B	0.09377	0.004;0.001;0.002;0.002;0.002	T	0.22034	-1.0228	10	0.33940	T	0.23	.	10.8552	0.46794	0.0:0.6061:0.0:0.3939	.	425;474;477;477;477	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	H	477;477;477;33;477;425	ENSP00000313978:R477H;ENSP00000297990:R477H;ENSP00000368784:R477H;ENSP00000395915:R425H	ENSP00000297990:R477H	R	-	2	0	NOL6	33457861	0.507000	0.26146	0.981000	0.43875	0.281000	0.26958	0.316000	0.19469	-0.071000	0.12886	-1.332000	0.01269	CGT		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		6	51	6	51
CORO2A	7464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	100897226	100897226	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:100897226C>A	ENST00000343933.5	-	4	587	c.330G>T	c.(328-330)tgG>tgT	p.W110C	CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	110					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632																																																0													75.0	65.0	68.0					9																	100897226		2203	4300	6503	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.330G>T	9.37:g.100897226C>A	ENSP00000343746:p.Trp110Cys		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277856	0.80692	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	D;D	0.83506	-1.73;-1.73	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97103	0.9799	10	0.87932	D	0	-16.6329	18.0377	0.89309	0.0:1.0:0.0:0.0	.	110	Q92828	COR2A_HUMAN	C	110	ENSP00000343746:W110C;ENSP00000364218:W110C	ENSP00000343746:W110C	W	-	3	0	CORO2A	99937047	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.263000	0.78421	2.802000	0.96397	0.650000	0.86243	TGG		0.632	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		26	64	26	64
TAF1	6872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70626502	70626502	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:70626502G>T	ENST00000373790.4	+	26	4061	c.4010G>T	c.(4009-4011)cGc>cTc	p.R1337L	TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000449580.1_Missense_Mutation_p.R1337L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1337					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGAGGTTCGCAGAAAATCT	0.398																																																0													115.0	96.0	102.0					X																	70626502		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4010G>T	X.37:g.70626502G>T	ENSP00000362895:p.Arg1337Leu		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	31|31	5.088291|5.088291	0.94100|0.94100	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985;ENST00000463163|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.11712	.|2.75;2.82;2.8;2.75	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.092691	.|0.64402	.|D	.|0.000001	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.21194|0.21194	0.64|0.64	0.80722|0.80722	D|D	1|1	.|D;D;B	.|0.61080	.|0.988;0.989;0.388	.|D;P;B	.|0.63793	.|0.918;0.762;0.061	T|T	0.03034|0.03034	-1.1080|-1.1080	5|10	.|0.72032	.|D	.|0.01	.|.	17.4602|17.4602	0.87618|0.87618	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1337;1337;1358	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	S|L	248;3|1337;1337;1358;43;43;1358	.|ENSP00000362895:R1337L;ENSP00000389000:R1337L;ENSP00000406549:R1358L;ENSP00000276072:R1358L	.|ENSP00000276072:R1358L	A|R	+|+	1|2	0|0	TAF1|TAF1	70543227|70543227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.078000|9.078000	0.94023|0.94023	2.307000|2.307000	0.77673|0.77673	0.464000|0.464000	0.42555|0.42555	GCA|CGC		0.398	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		7	42	7	42
TANGO6	79613	broad.mit.edu;ucsc.edu	37	16	68900994	68900994	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:68900994G>A	ENST00000261778.1	+	4	877	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	289						integral component of membrane (GO:0016021)											CTGCACAGATGTGAAGACACA	0.473																																																0													93.0	91.0	92.0					16																	68900994		1909	4128	6037	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.865G>A	16.37:g.68900994G>A	ENSP00000261778:p.Val289Met		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385210	0.42308	.	.	ENSG00000103047	ENST00000261778	T	0.70516	-0.49	5.83	2.8	0.32819	.	.	.	.	.	T	0.59582	0.2204	L	0.44542	1.39	0.09310	N	1	P;P	0.44877	0.845;0.681	B;B	0.37601	0.254;0.254	T	0.48019	-0.9071	9	0.41790	T	0.15	0.4752	10.6683	0.45743	0.2157:0.0:0.7843:0.0	.	289;128	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	M	289	ENSP00000261778:V289M	ENSP00000261778:V289M	V	+	1	0	TMCO7	67458495	0.037000	0.19845	0.028000	0.17463	0.169000	0.22640	0.953000	0.29162	0.817000	0.34445	-0.145000	0.13849	GTG		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		40	84	40	84
KDM6B	23135	broad.mit.edu;ucsc.edu	37	17	7752905	7752905	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7752905C>A	ENST00000448097.2	+	11	3630	c.3299C>A	c.(3298-3300)cCc>cAc	p.P1100H	KDM6B_ENST00000254846.5_Missense_Mutation_p.P1100H			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1100					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGGGGCCCCCCAAGGAGCTG	0.632																																																0													17.0	20.0	19.0					17																	7752905		2200	4291	6491	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3299C>A	17.37:g.7752905C>A	ENSP00000412513:p.Pro1100His		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	C	14.59	2.581646	0.46006	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.42513	0.97;0.99	4.71	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.44542	1.39	0.46028	D	0.998827	D;D	0.89917	0.999;1.0	D;D	0.78314	0.936;0.991	T	0.34477	-0.9827	10	0.10636	T	0.68	-2.8427	13.5408	0.61672	0.0:0.8423:0.1576:0.0	.	1100;1100	O15054;O15054-1	KDM6B_HUMAN;.	H	1100	ENSP00000254846:P1100H;ENSP00000412513:P1100H	ENSP00000254846:P1100H	P	+	2	0	KDM6B	7693630	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	3.931000	0.56529	2.344000	0.79699	0.462000	0.41574	CCC		0.632	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	31	3	31
PTPRU	10076	broad.mit.edu;ucsc.edu	37	1	29585123	29585123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:29585123C>A	ENST00000345512.3	+	3	441	c.312C>A	c.(310-312)taC>taA	p.Y104*	PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.Y104*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	104	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGTTCAGCTACTTCCTGTACA	0.602																																																0													155.0	172.0	166.0					1																	29585123		2203	4300	6503	SO:0001587	stop_gained	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.312C>A	1.37:g.29585123C>A	ENSP00000334941:p.Tyr104*		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	38	6.717362	0.97784	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	5.72	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5628	0.50788	0.0:0.8564:0.0:0.1436	.	.	.	.	X	104	.	.	Y	+	3	2	PTPRU	29457710	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.094000	0.71431	0.786000	0.33708	-0.229000	0.12294	TAC		0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			21	202	21	202
FIP1L1	81608	broad.mit.edu;hgsc.bcm.edu	37	4	54324903	54324904	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:54324903_54324904delAT	ENST00000337488.6	+	17	1777_1778	c.1583_1584delAT	c.(1582-1584)catfs	p.H528fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	528	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAAGAACGACATAGAGAAAGAC	0.381			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0																																										SO:0001589	frameshift_variant	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1583_1584delAT	4.37:g.54324903_54324904delAT	ENSP00000336752:p.His528fs		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	CCDS3491.1																																																																																				0.381	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		11	41	11	41
