#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
OR51B2	79345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5345181	5345181	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:5345181A>G	ENST00000328813.2	-	1	401	c.347T>C	c.(346-348)aTg>aCg	p.M116T	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATATGCCATTGCCAGGAG	0.458																																																0													94.0	81.0	86.0					11																	5345181		2201	4297	6498	SO:0001583	missense	79345			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.347T>C	11.37:g.5345181A>G	ENSP00000327540:p.Met116Thr		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.639942	0.29157	.	.	ENSG00000184881	ENST00000328813	T	0.47177	0.85	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	U	0.000280	T	0.65852	0.2731	H	0.97918	4.105	0.37088	D	0.899322	B	0.32245	0.361	B	0.34590	0.186	T	0.78344	-0.2240	10	0.87932	D	0	.	12.5391	0.56158	1.0:0.0:0.0:0.0	.	116	Q9Y5P1	O51B2_HUMAN	T	116	ENSP00000327540:M116T	ENSP00000327540:M116T	M	-	2	0	OR51B2	5301757	1.000000	0.71417	0.994000	0.49952	0.369000	0.29798	8.085000	0.89518	1.827000	0.53221	0.524000	0.50904	ATG		0.458	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		9	87	9	87
SCGB2A2	4250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	62037739	62037739	+	Silent	SNP	C	C	T	rs137975337	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:62037739C>T	ENST00000227918.2	+	1	113	c.51C>T	c.(49-51)taC>taT	p.Y17Y	SCGB2A2_ENST00000525380.1_Silent_p.Y17Y	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	17										large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AGCACTGCTACGCAGGTGAGT	0.592																																																0								C		2,4402	4.2+/-10.8	0,2,2200	104.0	100.0	101.0		51	-3.3	0.7	11	dbSNP_134	101	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	SCGB2A2	NM_002411.2		0,4,6497	TT,TC,CC		0.0233,0.0454,0.0308		17/94	62037739	4,12998	2202	4299	6501	SO:0001819	synonymous_variant	4250			AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"""Secretoglobins"""	7050	protein-coding gene	gene with protein product	"""mammaglobin A"""	605562	"""mammaglobin 1"""	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.51C>T	11.37:g.62037739C>T			A1A522|Q86WH8	Silent	SNP	ENST00000227918.2	37	CCDS8018.1																																																																																				0.592	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394860.1	NM_002411		97	113	97	113
OR10G3	26533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	rs142649226	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:22038134C>T	ENST00000303532.1	-	1	741	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248M(1)|p.V248L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577													C|||	8	0.00159744	0.0045	0.0014	5008	,	,		17010	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)						C	MET/VAL	17,4389	25.3+/-52.1	0,17,2186	80.0	86.0	84.0		742	0.8	0.6	14	dbSNP_134	84	0,8600		0,0,4300	yes	missense	OR10G3	NM_001005465.1	21	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	benign	248/314	22038134	17,12989	2203	4300	6503	SO:0001583	missense	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.742G>A	14.37:g.22038134C>T	ENSP00000302437:p.Val248Met		Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454128	0.26161	0.003858	0.0	ENSG00000169208	ENST00000303532	T	0.00277	8.34	5.11	0.809	0.18725	GPCR, rhodopsin-like superfamily (1);	0.418145	0.17713	N	0.164506	T	0.00328	0.0010	M	0.89601	3.045	0.27113	N	0.962321	B	0.29378	0.243	B	0.34452	0.183	T	0.30090	-0.9990	10	0.62326	D	0.03	-0.2701	4.7223	0.12924	0.2979:0.5262:0.0:0.1759	.	248	Q8NGC4	O10G3_HUMAN	M	248	ENSP00000302437:V248M	ENSP00000302437:V248M	V	-	1	0	OR10G3	21107974	0.002000	0.14202	0.615000	0.29064	0.627000	0.37826	0.178000	0.16820	0.237000	0.21200	-0.291000	0.09656	GTG		0.577	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			20	115	20	115
FBXO33	254170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	39870639	39870639	+	Silent	SNP	G	G	A	rs144987416		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:39870639G>A	ENST00000298097.7	-	3	1474	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	379					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CTTCACTCTTGATATCAAAAG	0.398																																																0								G		5,4401	9.9+/-24.2	0,5,2198	84.0	81.0	82.0		1137	2.9	1.0	14	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	FBXO33	NM_203301.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		379/556	39870639	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1137C>T	14.37:g.39870639G>A			Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	CCDS9677.1																																																																																				0.398	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			43	54	43	54
SLC28A2	9153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	45561537	45561537	+	Splice_Site	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr15:45561537T>C	ENST00000347644.3	+	14	1435	c.1370T>C	c.(1369-1371)gTc>gCc	p.V457A	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	457					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTCACTCAGGTCATCTGCTCC	0.478																																					NSCLC(92;493 1501 26361 28917 47116)											0													165.0	151.0	156.0					15																	45561537		2198	4298	6496	SO:0001630	splice_region_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1369-1T>C	15.37:g.45561537T>C			A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921711	0.73213	.	.	ENSG00000137860	ENST00000347644	T	0.05996	3.36	6.04	6.04	0.98038	Na dependent nucleoside transporter, C-terminal (1);	0.205863	0.42420	D	0.000712	T	0.06826	0.0174	N	0.20574	0.59	0.43714	D	0.996182	P	0.42871	0.792	B	0.42959	0.403	T	0.39375	-0.9617	10	0.48119	T	0.1	-24.1095	14.5284	0.67905	0.0:0.0:0.0:1.0	.	457	O43868	S28A2_HUMAN	A	457	ENSP00000315006:V457A	ENSP00000315006:V457A	V	+	2	0	SLC28A2	43348829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.317000	0.78254	0.459000	0.35465	GTC		0.478	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Missense_Mutation	32	122	32	122
TP53	7157	hgsc.bcm.edu;broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr17:7578542G>C	ENST00000269305.4	-	5	577	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_ENST00000413465.2_Missense_Mutation_p.L130V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.L130V|TP53_ENST00000455263.2_Missense_Mutation_p.L130V|TP53_ENST00000445888.2_Missense_Mutation_p.L130V|TP53_ENST00000420246.2_Missense_Mutation_p.L130V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTTGTTGAGGGCAGGGGAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	65	Substitution - Missense(30)|Deletion - In frame(14)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)	large_intestine(11)|breast(9)|ovary(6)|upper_aerodigestive_tract(5)|lung(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|prostate(4)|bone(4)|urinary_tract(3)|oesophagus(3)|adrenal_gland(2)|stomach(2)|biliary_tract(1)|skin(1)|liver(1)											45.0	46.0	45.0					17																	7578542		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.388C>G	17.37:g.7578542G>C	ENSP00000269305:p.Leu130Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640631	0.67244	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.86953	2.85	0.58432	D	0.999992	D;D;D;P;D;D;D	0.76494	0.996;0.998;0.995;0.924;0.998;0.997;0.999	P;D;D;B;D;D;D	0.91635	0.899;0.999;0.98;0.388;0.999;0.999;0.989	D	0.96621	0.9459	10	0.87932	D	0	-29.0594	17.2272	0.86973	0.0:0.0:1.0:0.0	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130V;ENSP00000352610:L130V;ENSP00000269305:L130V;ENSP00000398846:L130V;ENSP00000391127:L130V;ENSP00000391478:L130V;ENSP00000423862:L37V;ENSP00000424104:L130V	ENSP00000269305:L130V	L	-	1	0	TP53	7519267	1.000000	0.71417	0.930000	0.37139	0.764000	0.43329	5.638000	0.67861	2.733000	0.93635	0.655000	0.94253	CTC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	3	31	3
HID1	283987	hgsc.bcm.edu;ucsc.edu	37	17	72949151	72949151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr17:72949151G>A	ENST00000425042.2	-	16	2079	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	668					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GTGGACGGTCGCCGCTGCTCC	0.687																																																0													22.0	19.0	20.0					17																	72949151		2203	4298	6501	SO:0001587	stop_gained	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.2002C>T	17.37:g.72949151G>A	ENSP00000413520:p.Arg668*		Q8N5L6|Q8TE83|Q9NT34	Nonsense_Mutation	SNP	ENST00000425042.2	37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682346	0.98431	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.09	4.11	0.48088	.	0.230196	0.34628	N	0.003805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-3.7252	15.0957	0.72232	0.0:0.0:0.8576:0.1424	.	.	.	.	X	440;668;440	.	ENSP00000317795:R440X	R	-	1	2	C17orf28	70460746	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	4.806000	0.62569	1.118000	0.41863	0.561000	0.74099	CGA		0.687	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		8	17	8	17
MYO1F	4542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	8620581	8620581	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:8620581C>T	ENST00000338257.8	-	2	370	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	35	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGAGGTTGGCGGCAATGGCG	0.617																																																0													100.0	107.0	105.0					19																	8620581		2052	4180	6232	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.103G>A	19.37:g.8620581C>T	ENSP00000344871:p.Ala35Thr		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432703	0.25813	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87650	-2.28	4.09	-0.418	0.12344	Myosin head, motor domain (2);	0.304713	0.29594	N	0.011716	T	0.69333	0.3099	N	0.04669	-0.19	0.23506	N	0.997537	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.14023	0.007;0.01;0.01	T	0.62310	-0.6881	10	0.62326	D	0.03	.	8.6835	0.34223	0.0:0.5913:0.0:0.4087	.	35;35;35	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	T	80;35	ENSP00000344871:A35T	ENSP00000304899:A80T	A	-	1	0	MYO1F	8526581	1.000000	0.71417	0.867000	0.34043	0.027000	0.11550	1.393000	0.34497	0.122000	0.18314	0.455000	0.32223	GCC		0.617	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			29	69	29	69
ICAM3	3385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10445307	10445307	+	Silent	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:10445307A>G	ENST00000160262.5	-	5	1297	c.1089T>C	c.(1087-1089)aaT>aaC	p.N363N	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Silent_p.N286N	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	363	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCTCGGTAGCATTTAGCTGAA	0.632																																																0													59.0	59.0	59.0					19																	10445307		2203	4300	6503	SO:0001819	synonymous_variant	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1089T>C	19.37:g.10445307A>G			Q6PD68	Silent	SNP	ENST00000160262.5	37	CCDS12235.1																																																																																				0.632	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			37	60	37	60
EID2B	126272	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40023429	40023429	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:40023429G>C	ENST00000326282.4	-	1	65	c.14C>G	c.(13-15)aCt>aGt	p.T5S	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_5'UTR	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACAGCCCAGTCGGCTCCGC	0.647											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													22.0	25.0	24.0					19																	40023429		2135	4154	6289	SO:0001583	missense	126272			AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.14C>G	19.37:g.40023429G>C	ENSP00000317564:p.Thr5Ser	890		Missense_Mutation	SNP	ENST00000326282.4	37	CCDS12539.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869199	0.32977	.	.	ENSG00000176401	ENST00000326282	T	0.32272	1.46	1.02	-0.149	0.13420	.	.	.	.	.	T	0.13372	0.0324	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.18561	0.022	T	0.28681	-1.0036	9	0.08837	T	0.75	.	4.8998	0.13769	0.0:0.3918:0.6082:0.0	.	5	Q96D98	EID2B_HUMAN	S	5	ENSP00000317564:T5S	ENSP00000317564:T5S	T	-	2	0	EID2B	44715269	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.652000	0.05366	0.008000	0.14787	0.456000	0.33151	ACT		0.647	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		10	24	10	24
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	152284999	152284999	+	Missense_Mutation	SNP	C	C	T	rs142483068	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:152284999C>T	ENST00000368799.1	-	3	2398	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	788	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACGTCGAGACCTTTC	0.567									Ichthyosis																																							0								C	GLN/ARG	0,4406		0,0,2203	308.0	295.0	300.0		2363	-0.5	0.0	1	dbSNP_134	300	3,8597		0,3,4297	no	missense	FLG	NM_002016.1	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	788/4062	152284999	3,13003	2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2363G>A	1.37:g.152284999C>T	ENSP00000357789:p.Arg788Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.134	1.012209	0.19277	0.0	3.49E-4	ENSG00000143631	ENST00000368799	T	0.04234	3.67	3.04	-0.509	0.11977	.	.	.	.	.	T	0.00608	0.0020	N	0.24115	0.695	0.09310	N	1	P	0.39404	0.672	B	0.18561	0.022	T	0.46400	-0.9194	9	0.13853	T	0.58	.	5.0933	0.14720	0.0:0.4563:0.4109:0.1328	.	788	P20930	FILA_HUMAN	Q	788	ENSP00000357789:R788Q	ENSP00000357789:R788Q	R	-	2	0	FLG	150551623	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.262000	0.08682	0.039000	0.15632	0.479000	0.44913	CGA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		149	410	149	410
ARHGEF2	9181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	155931587	155931587	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:155931587T>C	ENST00000361247.4	-	11	1432	c.1333A>G	c.(1333-1335)Atc>Gtc	p.I445V	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.I417V|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.I490V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.I444V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.I417V|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.I446V|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	445					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGTTGTAGATCTCCTGCAGA	0.607																																					Melanoma(178;35 2768 6610 28839)											0													71.0	71.0	71.0					1																	155931587		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1333A>G	1.37:g.155931587T>C	ENSP00000354837:p.Ile445Val		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.581266	0.65992	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	4.95	4.95	0.65309	Dbl homology (DH) domain (2);	0.000000	0.49305	D	0.000160	T	0.70072	0.3182	M	0.62723	1.935	0.43103	D	0.994793	P;P;P;P	0.49358	0.874;0.874;0.705;0.923	B;P;P;P	0.54270	0.338;0.562;0.632;0.747	T	0.72268	-0.4343	10	0.45353	T	0.12	-27.8373	12.8802	0.58012	0.0:0.0:0.0:1.0	.	490;489;445;444	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	V	417;445;446;417;490;418;444	ENSP00000315325:I417V;ENSP00000354837:I445V;ENSP00000357298:I446V;ENSP00000357299:I417V;ENSP00000314787:I444V	ENSP00000314787:I444V	I	-	1	0	ARHGEF2	154198211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.824000	0.39072	2.199000	0.70637	0.533000	0.62120	ATC		0.607	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		44	49	44	49
IFI16	3428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	158988254	158988254	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:158988254C>T	ENST00000295809.7	+	5	1040	c.785C>T	c.(784-786)tCa>tTa	p.S262L	IFI16_ENST00000368131.4_Missense_Mutation_p.S262L|IFI16_ENST00000359709.3_Missense_Mutation_p.S206L|IFI16_ENST00000368132.3_Missense_Mutation_p.S262L|IFI16_ENST00000430894.2_Missense_Mutation_p.S210L|IFI16_ENST00000340979.6_Missense_Mutation_p.S262L|IFI16_ENST00000448393.2_Missense_Mutation_p.S262L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	262	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATCATCATATCAGATTATTTG	0.368																																																0													67.0	69.0	68.0					1																	158988254		2203	4300	6503	SO:0001583	missense	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.785C>T	1.37:g.158988254C>T	ENSP00000295809:p.Ser262Leu		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.327660|1.327660	0.24080|0.24080	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.23552	.|1.9;1.9;1.9;1.9;1.9	2.9|2.9	1.93|1.93	0.25924|0.25924	.|HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.|.	.|.	.|.	.|.	.|T	.|0.29749	.|0.0743	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76575	.|0.988;0.98;0.988	.|T	.|0.04216	.|-1.0968	.|8	.|.	.|.	.|.	.|.	7.0069|7.0069	0.24842|0.24842	0.2715:0.7285:0.0:0.0|0.2715:0.7285:0.0:0.0	.|.	.|210;262;262	.|E7EPR3;Q16666-2;Q16666	.|.;.;IF16_HUMAN	X|L	83|262;262;262;262;210	.|ENSP00000295809:S262L;ENSP00000342741:S262L;ENSP00000357113:S262L;ENSP00000357114:S262L;ENSP00000394935:S210L	.|.	Q|S	+|+	1|2	0|0	IFI16|IFI16	157254878|157254878	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.050000|0.050000	0.14768|0.14768	0.727000|0.727000	0.25999|0.25999	0.491000|0.491000	0.27793|0.27793	0.555000|0.555000	0.69702|0.69702	CAG|TCA		0.368	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		10	68	10	68
TMPRSS6	164656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	37469676	37469676	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr22:37469676G>C	ENST00000346753.3	-	13	1594	c.1478C>G	c.(1477-1479)gCc>gGc	p.A493G	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A484G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A484G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A484G	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	493	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGAATGTGGCTCTGCAAAC	0.587																																																0													171.0	143.0	152.0					22																	37469676		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1478C>G	22.37:g.37469676G>C	ENSP00000334962:p.Ala493Gly		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602542	0.46423	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	4.79	4.79	0.61399	.	0.063724	0.64402	D	0.000009	D	0.90086	0.6903	N	0.17082	0.46	0.45822	D	0.99869	B;B	0.25048	0.037;0.117	B;B	0.29524	0.024;0.103	D	0.86812	0.1999	10	0.27785	T	0.31	.	12.4026	0.55422	0.0:0.1695:0.8305:0.0	.	484;493	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	G	484;493;484;484	ENSP00000371211:A484G;ENSP00000334962:A493G;ENSP00000385453:A484G;ENSP00000384964:A484G	ENSP00000334962:A493G	A	-	2	0	TMPRSS6	35799622	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.444000	0.73452	2.216000	0.71823	0.478000	0.44815	GCC		0.587	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		11	100	11	100
IL18R1	8809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	102984511	102984511	+	Silent	SNP	T	T	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:102984511T>A	ENST00000409599.1	+	4	641	c.285T>A	c.(283-285)tcT>tcA	p.S95S	IL18R1_ENST00000334376.3_Silent_p.S95S|IL18R1_ENST00000233957.1_Silent_p.S95S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	95	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACACAGGATCTTACTTTTTCC	0.403																																																0													170.0	170.0	170.0					2																	102984511		2203	4300	6503	SO:0001819	synonymous_variant	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.285T>A	2.37:g.102984511T>A			B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	CCDS2060.1																																																																																				0.403	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		14	149	14	149
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		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.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			45	52	45	52
SLCO2A1	6578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	133654661	133654661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:133654661G>A	ENST00000310926.4	-	13	2044	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.R515*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	591					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CAGGCCCCTCGCCTCCCCAAG	0.602																																																0													73.0	62.0	65.0					3																	133654661		2203	4300	6503	SO:0001587	stop_gained	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1771C>T	3.37:g.133654661G>A	ENSP00000311291:p.Arg591*		Q86V98|Q8IUN2	Nonsense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128034	0.77549	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.4	2.32	0.28847	.	0.242115	0.38897	N	0.001527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4451	0.32836	0.0:0.1758:0.323:0.5012	.	.	.	.	X	591;515	.	ENSP00000311291:R591X	R	-	1	2	SLCO2A1	135137351	0.998000	0.40836	0.989000	0.46669	0.134000	0.20937	2.169000	0.42434	0.795000	0.33922	0.561000	0.74099	CGA		0.602	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		4	30	4	30
RHOH	399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	40245505	40245505	+	Missense_Mutation	SNP	G	G	A	rs200653414		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:40245505G>A	ENST00000381799.5	+	3	1223	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	RHOH_ENST00000505618.1_Missense_Mutation_p.V167I	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	167					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGAGTGCGCCGTCCGAACTGC	0.542																																																0													38.0	39.0	38.0					4																	40245505		2203	4300	6503	SO:0001583	missense	399			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.499G>A	4.37:g.40245505G>A	ENSP00000371219:p.Val167Ile			Missense_Mutation	SNP	ENST00000381799.5	37	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	10.21	1.288823	0.23478	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.69806	-0.43;-0.43	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	N	0.01188	-0.97	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.58289	-0.7662	10	0.02654	T	1	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	167	Q15669	RHOH_HUMAN	I	167	ENSP00000425010:V167I;ENSP00000371219:V167I	ENSP00000371219:V167I	V	+	1	0	RHOH	39921900	1.000000	0.71417	0.990000	0.47175	0.175000	0.22909	9.434000	0.97515	2.814000	0.96858	0.591000	0.81541	GTC		0.542	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		37	29	37	29
SLC6A3	6531	hgsc.bcm.edu;broad.mit.edu	37	5	1422122	1422122	+	Missense_Mutation	SNP	C	C	T	rs138948519		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:1422122C>T	ENST00000270349.9	-	5	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V221M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	221					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.V221M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGGTGCAGCACGCCACGTCTG	0.662																																																1	Substitution - Missense(1)	pancreas(1)						C	MET/VAL	0,4406		0,0,2203	64.0	62.0	63.0		661	3.5	0.9	5	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A3	NM_001044.4	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	221/621	1422122	1,13005	2203	4300	6503	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.661G>A	5.37:g.1422122C>T	ENSP00000270349:p.Val221Met		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673830	0.47781	0.0	1.16E-4	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.77489	-1.1;-1.1;-1.1	4.4	3.53	0.40419	.	0.220952	0.37530	N	0.002060	D	0.85279	0.5660	M	0.89658	3.05	0.54753	D	0.999989	P	0.47191	0.891	P	0.53006	0.715	D	0.85139	0.0979	10	0.42905	T	0.14	.	10.424	0.44367	0.0:0.9015:0.0:0.0985	.	221	Q01959	SC6A3_HUMAN	M	221;221;147	ENSP00000270349:V221M;ENSP00000399806:V221M;ENSP00000429101:V147M	ENSP00000270349:V221M	V	-	1	0	SLC6A3	1475122	1.000000	0.71417	0.886000	0.34754	0.782000	0.44232	5.434000	0.66526	0.968000	0.38212	0.462000	0.41574	GTG		0.662	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		8	92	8	92
SLC12A2	6558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	127449952	127449952	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:127449952T>C	ENST00000262461.2	+	3	1114	c.925T>C	c.(925-927)Tca>Cca	p.S309P	SLC12A2_ENST00000343225.4_Missense_Mutation_p.S309P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	309					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CATTAGATTGTCATGGATTGT	0.373																																																0													335.0	315.0	322.0					5																	127449952		2203	4300	6503	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.925T>C	5.37:g.127449952T>C	ENSP00000262461:p.Ser309Pro		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753650	0.49362	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98862	-5.19;-5.19	5.54	5.54	0.83059	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	L	0.61218	1.895	0.80722	D	1	B;P	0.35050	0.427;0.482	B;B	0.41412	0.243;0.356	D	0.97781	1.0232	10	0.23302	T	0.38	.	14.7954	0.69873	0.0:0.0:0.0:1.0	.	309;309	P55011-3;P55011	.;S12A2_HUMAN	P	309	ENSP00000262461:S309P;ENSP00000340878:S309P	ENSP00000262461:S309P	S	+	1	0	SLC12A2	127477851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.250000	0.51445	2.323000	0.78572	0.528000	0.53228	TCA		0.373	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		58	146	58	146
ACAT2	39	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	160199292	160199292	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:160199292C>G	ENST00000367048.4	+	8	2763	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	SNORA20_ENST00000384662.1_RNA|ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.L364V	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	335					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTTAAAGAACTTGGATTAAA	0.388																																																0													60.0	60.0	60.0					6																	160199292		2203	4300	6503	SO:0001583	missense	39			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.1003C>G	6.37:g.160199292C>G	ENSP00000356015:p.Leu335Val		B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517000	0.44763	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.93712	-3.27;-3.27	5.38	4.52	0.55395	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.96435	0.9322	10	0.72032	D	0.01	-10.7471	10.5693	0.45192	0.0:0.8518:0.0:0.1482	.	364;335	B7Z233;Q9BWD1	.;THIC_HUMAN	V	335;364	ENSP00000356015:L335V;ENSP00000437850:L364V	ENSP00000356015:L335V	L	+	1	0	ACAT2	160119282	1.000000	0.71417	0.984000	0.44739	0.151000	0.21798	3.722000	0.54948	1.411000	0.46957	0.313000	0.20887	CTT		0.388	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		13	24	13	24
STK31	56164	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	23871943	23871943	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr7:23871943T>A	ENST00000355870.3	+	24	3137	c.3018T>A	c.(3016-3018)tgT>tgA	p.C1006*	STK31_ENST00000428484.1_Nonsense_Mutation_p.C983*|STK31_ENST00000433467.2_Nonsense_Mutation_p.C983*|STK31_ENST00000354639.3_Nonsense_Mutation_p.C983*|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1006	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATAAATGTATGGAGAAGA	0.333																																																0													70.0	78.0	75.0					7																	23871943		2203	4299	6502	SO:0001587	stop_gained	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.3018T>A	7.37:g.23871943T>A	ENSP00000348132:p.Cys1006*		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	T	38	6.857334	0.97889	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	4.82	0.993	0.19825	.	0.763910	0.11947	N	0.514054	.	.	.	.	.	.	0.49389	D	0.999784	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	1.6194	2.8975	0.05694	0.1849:0.2045:0.0:0.6106	.	.	.	.	X	1006;983;983;983	.	ENSP00000346660:C983X	C	+	3	2	STK31	23838468	0.899000	0.30636	0.045000	0.18777	0.444000	0.32077	0.801000	0.27055	0.247000	0.21414	0.260000	0.18958	TGT		0.333	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		59	54	59	54
C12orf71	728858	broad.mit.edu;ucsc.edu	37	12	27234398	27234398	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:27234398C>A	ENST00000429849.2	-	2	549	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	173										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCTGGCTTATCATCTGCCATG	0.463																																																0													110.0	100.0	103.0					12																	27234398		1986	4160	6146	SO:0001583	missense	0				CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.519G>T	12.37:g.27234398C>A	ENSP00000413728:p.Met173Ile			Missense_Mutation	SNP	ENST00000429849.2	37	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	4.639	0.118708	0.08881	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.39229	1.09	2.07	-2.22	0.06952	.	1.992770	0.03076	N	0.157900	T	0.22781	0.0550	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06991	-1.0796	10	0.21540	T	0.41	.	3.5236	0.07751	0.0:0.5025:0.2192:0.2783	.	173	A8MTZ7	CL071_HUMAN	I	205;173	ENSP00000413728:M173I	ENSP00000381796:M205I	M	-	3	0	C12orf71	27125665	0.000000	0.05858	0.002000	0.10522	0.246000	0.25737	-0.522000	0.06237	-0.597000	0.05813	0.205000	0.17691	ATG		0.463	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		40	63	40	63
IPO9	55705	broad.mit.edu;ucsc.edu	37	1	201817721	201817721	+	Splice_Site	SNP	A	A	G			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:201817721A>G	ENST00000361565.4	+	4	582	c.513A>G	c.(511-513)acA>acG	p.T171T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	171					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGCTGACAGGTACCAGAA	0.512																																																0													114.0	94.0	101.0					1																	201817721		2203	4300	6503	SO:0001630	splice_region_variant	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.514+1A>G	1.37:g.201817721A>G			B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Splice_Site	SNP	ENST00000361565.4	37	CCDS1415.1																																																																																				0.512	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085	Silent	18	27	18	27
BMP6	654	broad.mit.edu;ucsc.edu	37	6	7727731	7727731	+	Silent	SNP	G	G	A			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:7727731G>A	ENST00000283147.6	+	1	702	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	181					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCGCACCCGCTCAACCGCA	0.741																																																0													7.0	9.0	8.0					6																	7727731		2068	4083	6151	SO:0001819	synonymous_variant	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.543G>A	6.37:g.7727731G>A			Q5TCP3	Silent	SNP	ENST00000283147.6	37	CCDS4503.1																																																																																				0.741	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		3	13	3	13
KIAA0556	23247	broad.mit.edu;ucsc.edu	37	16	27640072	27640072	+	Silent	SNP	T	T	C			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr16:27640072T>C	ENST00000261588.4	+	4	250	c.231T>C	c.(229-231)aaT>aaC	p.N77N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	77						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGGTGCCAATTCGGAGCTGA	0.522																																																0													146.0	130.0	135.0					16																	27640072		2197	4300	6497	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.231T>C	16.37:g.27640072T>C			A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.522	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		45	143	45	143
TCEB3	6924	broad.mit.edu;hgsc.bcm.edu	37	1	24077560	24077561	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:24077560_24077561delAA	ENST00000418390.2	+	4	814_815	c.543_544delAA	c.(541-546)agaaagfs	p.K182fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K156fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	182					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGATGAGAGAAAGAGGTGTCA	0.48																																																0																																										SO:0001589	frameshift_variant	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.543_544delAA	1.37:g.24077560_24077561delAA	ENSP00000395574:p.Lys182fs		B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	CCDS239.2																																																																																				0.480	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		50	120	50	120
GBP2	2634	broad.mit.edu;hgsc.bcm.edu	37	1	89578261	89578263	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89578261_89578263delTCT	ENST00000370466.3	-	8	1522_1524	c.1254_1256delAGA	c.(1252-1257)gaagat>gat	p.E418del	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	418					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E418delE(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTGCTTGACATCTTCTTCTAAAG	0.438																																																1	Deletion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1254_1256delAGA	1.37:g.89578267_89578269delTCT	ENSP00000359497:p.Glu418del		Q6GPH0|Q6IAU2|Q86TB0	In_Frame_Del	DEL	ENST00000370466.3	37	CCDS719.1																																																																																				0.438	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		40	190	40	190
UXS1	80146	broad.mit.edu;hgsc.bcm.edu	37	2	106710502	106710505	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:106710502_106710505delCTTT	ENST00000409501.3	-	15	1297_1300	c.1240_1243delAAAG	c.(1240-1245)aaaggafs	p.KG414fs	UXS1_ENST00000283148.7_Frame_Shift_Del_p.KG419fs|UXS1_ENST00000409032.1_Frame_Shift_Del_p.KG246fs|UXS1_ENST00000540130.1_Frame_Shift_Del_p.KG357fs			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	414					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						CGAGTCCGTCCTTTCTTTATTCTG	0.412																																																0																																										SO:0001589	frameshift_variant	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.1240_1243delAAAG	2.37:g.106710506_106710509delCTTT	ENSP00000387019:p.Lys414fs		Q8NBX3|Q9H5C2	Frame_Shift_Del	DEL	ENST00000409501.3	37	CCDS46378.1																																																																																				0.412	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		35	31	35	31
ZXDC	79364	broad.mit.edu;hgsc.bcm.edu	37	3	126191130	126191133	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:126191130_126191133delATAA	ENST00000389709.3	-	2	976_979	c.923_926delTTAT	c.(922-927)tttatcfs	p.FI308fs	ZXDC_ENST00000336332.5_Frame_Shift_Del_p.FI308fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	308					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		ACTCACTGTGATAAATGTCTTCTC	0.475																																																0																																										SO:0001589	frameshift_variant	79364			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.923_926delTTAT	3.37:g.126191130_126191133delATAA	ENSP00000374359:p.Phe308fs		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	CCDS43145.1																																																																																				0.475	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		44	77	44	77
YTHDC1	91746	broad.mit.edu;hgsc.bcm.edu	37	4	69203308	69203310	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:69203308_69203310delAGG	ENST00000344157.4	-	3	774_776	c.439_441delCCT	c.(439-441)cctdel	p.P147del	YTHDC1_ENST00000579690.1_In_Frame_Del_p.P147del|YTHDC1_ENST00000355665.3_In_Frame_Del_p.P147del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	147					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CATCTGGCGTAGGAGATTTGGCC	0.404																																																0																																										SO:0001651	inframe_deletion	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.439_441delCCT	4.37:g.69203308_69203310delAGG	ENSP00000339245:p.Pro147del		Q4W5Q3|Q7Z622|Q8TF35	In_Frame_Del	DEL	ENST00000344157.4	37	CCDS33992.1																																																																																				0.404	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		21	37	21	37
ANK2	287	broad.mit.edu;hgsc.bcm.edu	37	4	114277079	114277080	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:114277079_114277080delCT	ENST00000357077.4	+	38	7358_7359	c.7305_7306delCT	c.(7303-7308)gactctfs	p.S2436fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.S2403fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2436					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACAAAGACTCTCTGGAAGC	0.51																																																0																																										SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7305_7306delCT	4.37:g.114277083_114277084delCT	ENSP00000349588:p.Ser2436fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	37	CCDS3702.1																																																																																				0.510	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		45	65	45	65
OR1J4	26219	broad.mit.edu;hgsc.bcm.edu	37	9	125281597	125281599	+	In_Frame_Del	DEL	TTC	TTC	-	rs559675076		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr9:125281597_125281599delTTC	ENST00000340750.1	+	1	178_180	c.178_180delTTC	c.(178-180)ttcdel	p.F62del		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACCCCCATGTTCTTCTTCCTCA	0.498																																																0																																										SO:0001651	inframe_deletion	26219			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.178_180delTTC	9.37:g.125281603_125281605delTTC	ENSP00000343521:p.Phe62del		A3KFM0|Q6IEZ3|Q96R89	In_Frame_Del	DEL	ENST00000340750.1	37	CCDS35122.1																																																																																				0.498	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			133	173	133	173
CALCOCO1	57658	broad.mit.edu;hgsc.bcm.edu	37	12	54110173	54110175	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:54110173_54110175delCTC	ENST00000550804.1	-	8	934_936	c.874_876delGAG	c.(874-876)gagdel	p.E292del	CALCOCO1_ENST00000548263.1_In_Frame_Del_p.E292del|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_In_Frame_Del_p.E292del			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	292					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTGATGGTTCTCCTGTTGTGCC	0.542																																																0																																										SO:0001651	inframe_deletion	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.874_876delGAG	12.37:g.54110173_54110175delCTC	ENSP00000449960:p.Glu292del		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	In_Frame_Del	DEL	ENST00000550804.1	37	CCDS8864.1																																																																																				0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		40	50	40	50
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:11106926_11106928delAGA	ENST00000429416.3	+	11	1912_1914	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546			Missing (in MRD16). {ECO:0000269|PubMed:22426308}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"""F, N, Mis"""		NSCLC																																		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								SO:0001651	inframe_deletion	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1631_1633delAGA	19.37:g.11106929_11106931delAGA	ENSP00000395654:p.Lys546del		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	CCDS12253.1																																																																																				0.576	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		42	159	42	159
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76918950	76918951	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chrX:76918950_76918951delCA	ENST00000373344.5	-	12	4254_4255	c.4040_4041delTG	c.(4039-4041)gtgfs	p.V1347fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1309fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1347					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCCGTCACTCACAGTCAATTT	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4040_4041delTG	X.37:g.76918952_76918953delCA	ENSP00000362441:p.Val1347fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		27	5	27	5
