#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
CIB2	10518	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	78401696	78401696	+	Missense_Mutation	SNP	G	G	A	rs147498144		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr15:78401696G>A	ENST00000258930.3	-	4	555	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CIB2_ENST00000557846.1_Missense_Mutation_p.A27V|CIB2_ENST00000560618.1_Missense_Mutation_p.A33V|CIB2_ENST00000539011.1_Missense_Mutation_p.A33V	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	76	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GGAAAACGCCGCCACGATCCT	0.552																																																0								G	VAL/ALA	0,4392		0,0,2196	88.0	76.0	80.0		227	2.1	0.9	15	dbSNP_134	80	1,8585	1.2+/-3.3	0,1,4292	yes	missense	CIB2	NM_006383.2	64	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	benign	76/188	78401696	1,12977	2196	4293	6489	SO:0001583	missense	10518			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.227C>T	15.37:g.78401696G>A	ENSP00000258930:p.Ala76Val		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240929	0.39598	0.0	1.16E-4	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.68331	-0.32;2.88	4.63	2.07	0.26955	EF-hand-like domain (1);	0.124908	0.52532	D	0.000069	T	0.50973	0.1647	L	0.41492	1.28	0.25237	N	0.98979	P;P	0.37612	0.602;0.456	B;B	0.29524	0.083;0.103	T	0.47812	-0.9088	10	0.52906	T	0.07	-20.1622	11.1463	0.48432	0.0:0.0:0.2946:0.7054	.	76;76	B4DDF0;O75838	.;CIB2_HUMAN	V	76;33	ENSP00000258930:A76V;ENSP00000442459:A33V	ENSP00000258930:A76V	A	-	2	0	CIB2	76188751	1.000000	0.71417	0.853000	0.33588	0.235000	0.25334	3.362000	0.52314	0.730000	0.32425	-0.362000	0.07510	GCG		0.552	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		12	64	12	64
MYOM1	8736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	3134811	3134811	+	Missense_Mutation	SNP	C	C	G	rs546357155	byFrequency	TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr18:3134811C>G	ENST00000356443.4	-	16	2554	c.2221G>C	c.(2221-2223)Gct>Cct	p.A741P	MYOM1_ENST00000261606.7_Missense_Mutation_p.A741P|MYOM1_ENST00000400569.3_Missense_Mutation_p.A741P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	741	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCCAGGAGCCTTGGGGATA	0.428													C|||	10	0.00199681	0.0	0.0	5008	,	,		17918	0.0		0.0	False		,,,				2504	0.0102															0													103.0	98.0	99.0					18																	3134811		1865	4114	5979	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2221G>C	18.37:g.3134811C>G	ENSP00000348821:p.Ala741Pro		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	7.076	0.569253	0.13560	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.59502	0.26;0.26;0.26	5.68	-3.02	0.05446	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.536295	0.21918	N	0.067216	T	0.43567	0.1253	N	0.12637	0.245	0.29502	N	0.854837	B;B	0.13145	0.007;0.005	B;B	0.23574	0.028;0.047	T	0.32745	-0.9895	10	0.14656	T	0.56	.	28.9193	0.99999	0.0:0.1841:0.8159:0.0	.	741;741	P52179-2;P52179	.;MYOM1_HUMAN	P	741	ENSP00000348821:A741P;ENSP00000383413:A741P;ENSP00000261606:A741P	ENSP00000261606:A741P	A	-	1	0	MYOM1	3124811	0.103000	0.21917	0.035000	0.18076	0.938000	0.57974	0.032000	0.13732	-0.931000	0.03746	0.650000	0.86243	GCT		0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		31	22	31	22
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:42799059C>T	ENST00000575354.2	+	20	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000572681.2_Missense_Mutation_p.R2421C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													47.0	47.0	47.0					19																	42799059		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4543C>T	19.37:g.42799059C>T	ENSP00000458663:p.Arg1515Cys		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159893	0.57368	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	2.33	0.28932	.	.	.	.	.	T	0.52901	0.1763	L	0.29908	0.895	0.51233	D	0.999917	D	0.89917	1.0	D	0.76575	0.988	T	0.55811	-0.8082	8	0.87932	D	0	-10.1007	2.833	0.05506	0.1907:0.5252:0.184:0.1001	.	1515	Q96RK0	CIC_HUMAN	C	1515	.	ENSP00000160740:R1515C	R	+	1	0	CIC	47490899	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	2.109000	0.41863	1.232000	0.43678	0.491000	0.48974	CGC		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			42	8	42	8
NBAS	51594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	15564503	15564503	+	Missense_Mutation	SNP	G	G	A	rs144830164		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:15564503G>A	ENST00000281513.5	-	23	2538	c.2513C>T	c.(2512-2514)aCg>aTg	p.T838M	NBAS_ENST00000441750.1_Missense_Mutation_p.T838M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	838					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTCTCCACCGTAAGCTGGGT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19989	0.0		0.0	False		,,,				2504	0.0															0								G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	193.0	148.0	163.0		2513	5.4	0.0	2	dbSNP_134	163	0,8600		0,0,4300	yes	missense	NBAS	NM_015909.2	81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	838/2372	15564503	4,13002	2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2513C>T	2.37:g.15564503G>A	ENSP00000281513:p.Thr838Met		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626827|2.626827	0.46840|0.46840	9.08E-4|9.08E-4	0.0|0.0	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000441755	.|T;T;T	.|0.27720	.|2.24;2.24;1.65	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Secretory pathway Sec39 (1);	.|0.532999	.|0.22829	.|N	.|0.055124	T|T	0.38799|0.38799	0.1054|0.1054	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48834	.|0.872;0.916	.|B;P	.|0.48368	.|0.36;0.575	T|T	0.28713|0.28713	-1.0035|-1.0035	5|10	.|0.87932	.|D	.|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|838;838	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	W|M	6|838;838;5	.|ENSP00000413201:T838M;ENSP00000281513:T838M;ENSP00000396501:T5M	.|ENSP00000281513:T838M	R|T	-|-	1|2	2|0	NBAS|NBAS	15481954|15481954	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.114000|0.114000	0.19823|0.19823	5.519000|5.519000	0.67074|0.67074	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		25	26	25	26
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	28	20	28
C5orf34	375444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	43506078	43506078	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr5:43506078T>C	ENST00000306862.2	-	4	1079	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	235										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GACCCATGTGTATACACATGT	0.413																																																0													135.0	132.0	133.0					5																	43506078		2203	4300	6503	SO:0001583	missense	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.704A>G	5.37:g.43506078T>C	ENSP00000303490:p.Tyr235Cys			Missense_Mutation	SNP	ENST00000306862.2	37	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925536	0.34002	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.57752	0.38	5.14	5.14	0.70334	.	0.405837	0.28332	N	0.015728	T	0.63593	0.2524	L	0.49640	1.575	0.09310	N	0.999991	D	0.76494	0.999	D	0.66351	0.943	T	0.56505	-0.7968	10	0.30854	T	0.27	-2.7018	13.5616	0.61793	0.0:0.0:0.0:1.0	.	235	Q96MH7	CE034_HUMAN	C	235;121	ENSP00000303490:Y235C	ENSP00000303490:Y235C	Y	-	2	0	C5orf34	43541835	0.588000	0.26799	0.041000	0.18516	0.252000	0.25951	5.172000	0.65003	1.954000	0.56735	0.482000	0.46254	TAC		0.413	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		56	76	56	76
FARS2	10667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	5771549	5771549	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:5771549C>T	ENST00000324331.6	+	7	1579	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	FARS2_ENST00000274680.4_Missense_Mutation_p.R415C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	415	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCACTGCTACCGCATCACGTA	0.592																																																0													148.0	110.0	123.0					6																	5771549		2203	4300	6503	SO:0001583	missense	10667			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1243C>T	6.37:g.5771549C>T	ENSP00000316335:p.Arg415Cys		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987620	0.93106	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.066582	0.64402	D	0.000012	D	0.92064	0.7485	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93511	0.6853	10	0.87932	D	0	-30.9009	18.6464	0.91411	0.0:1.0:0.0:0.0	.	415	O95363	SYFM_HUMAN	C	415	ENSP00000274680:R415C;ENSP00000316335:R415C	ENSP00000274680:R415C	R	+	1	0	FARS2	5716548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.724000	0.74747	2.746000	0.94184	0.655000	0.94253	CGC		0.592	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		35	42	35	42
SLC7A13	157724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	87229764	87229764	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:87229764T>G	ENST00000297524.3	-	3	1217	c.1114A>C	c.(1114-1116)Ata>Cta	p.I372L	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	372						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTAATAATATAGACCATAAT	0.323																																																0													31.0	37.0	35.0					8																	87229764		2193	4292	6485	SO:0001583	missense	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1114A>C	8.37:g.87229764T>G	ENSP00000297524:p.Ile372Leu		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	4.991	0.184084	0.09495	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90069	-2.61;-2.61	5.03	-3.65	0.04502	.	1.867780	0.03199	N	0.174539	T	0.63236	0.2494	N	0.00554	-1.385	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.57376	-0.7822	10	0.34782	T	0.22	.	0.5841	0.00717	0.2111:0.2977:0.2393:0.2519	.	363;372	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	L	372;363	ENSP00000297524:I372L;ENSP00000410982:I363L	ENSP00000297524:I372L	I	-	1	0	SLC7A13	87298880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.186000	0.03070	-0.955000	0.03636	-1.357000	0.01221	ATA		0.323	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		16	21	16	21
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	113364708	113364708	+	Silent	SNP	A	A	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:113364708A>G	ENST00000297405.5	-	39	6436	c.6192T>C	c.(6190-6192)atT>atC	p.I2064I	CSMD3_ENST00000352409.3_Silent_p.I1994I|CSMD3_ENST00000343508.3_Silent_p.I2024I|CSMD3_ENST00000455883.2_Silent_p.I1960I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2064	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTGTCTCCAATTTTAATTC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													111.0	104.0	106.0					8																	113364708		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6192T>C	8.37:g.113364708A>G			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	33	14	33
KDM4C	23081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	6805637	6805637	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:6805637T>G	ENST00000381309.3	+	3	748	c.183T>G	c.(181-183)taT>taG	p.Y61*	KDM4C_ENST00000536108.1_De_novo_Start_OutOfFrame|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.Y83*|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000401787.3_Nonsense_Mutation_p.Y61*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	61					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GACAGTGCTATGATGACATTG	0.368																																																0													103.0	94.0	97.0					9																	6805637		2203	4300	6503	SO:0001587	stop_gained	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.183T>G	9.37:g.6805637T>G	ENSP00000370710:p.Tyr61*		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Nonsense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	T	43	10.517482	0.99420	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	.	.	.	5.72	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3538	9.952	0.41645	0.0:0.1362:0.0:0.8638	.	.	.	.	X	83;61;61;61;61	.	ENSP00000370707:Y61X	Y	+	3	2	KDM4C	6795637	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.902000	0.28459	0.462000	0.27095	-0.262000	0.10625	TAT		0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		34	37	34	37
LCN1	3933	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	138415819	138415819	+	Missense_Mutation	SNP	G	G	A	rs199573452		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:138415819G>A	ENST00000263598.2	+	4	446	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	LCN1_ENST00000371781.3_Missense_Mutation_p.R129Q	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	129					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AAGCCGGTCCGAGGGGTGAAG	0.642																																																0													75.0	63.0	67.0					9																	138415819		2203	4300	6503	SO:0001583	missense	3933				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.386G>A	9.37:g.138415819G>A	ENSP00000263598:p.Arg129Gln		Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770937	0.15983	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.08008	3.14;3.14	3.11	-2.31	0.06765	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.672980	0.04586	N	0.395796	T	0.06416	0.0165	L	0.51422	1.61	0.09310	N	1	B	0.32604	0.377	B	0.17722	0.019	T	0.35724	-0.9777	10	0.21014	T	0.42	.	3.6261	0.08113	0.4476:0.0:0.3785:0.174	.	129	P31025	LCN1_HUMAN	Q	129	ENSP00000263598:R129Q;ENSP00000360846:R129Q	ENSP00000263598:R129Q	R	+	2	0	LCN1	137555640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.719000	0.04974	-0.590000	0.05866	-1.534000	0.00916	CGA		0.642	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		30	33	30	33
SLC35A2	7355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	48763802	48763802	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:48763802A>T	ENST00000247138.5	-	3	296	c.293T>A	c.(292-294)gTt>gAt	p.V98D	SLC35A2_ENST00000376529.3_Missense_Mutation_p.V98D|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V126D|SLC35A2_ENST00000376515.3_Missense_Mutation_p.V74D|SLC35A2_ENST00000445167.2_Missense_Mutation_p.V98D|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V37D|SLC35A2_ENST00000376512.1_Missense_Mutation_p.V98D|SLC35A2_ENST00000376521.1_Missense_Mutation_p.V98D	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	98					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAGGAAGAGAACCAGGTGCTT	0.552																																																0													139.0	100.0	113.0					X																	48763802		2203	4300	6503	SO:0001583	missense	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.293T>A	X.37:g.48763802A>T	ENSP00000247138:p.Val98Asp		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244949	0.39697	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000413561;ENST00000376515;ENST00000452555;ENST00000446885;ENST00000376512	T;T;T;T;T	0.49139	0.79;0.8;0.86;0.8;0.88	5.57	4.39	0.52855	.	0.303339	0.30101	N	0.010416	T	0.41743	0.1172	L	0.38838	1.175	0.24227	N	0.99542	P;B;P;B;P;D;P;P	0.57899	0.645;0.283;0.839;0.163;0.667;0.981;0.806;0.907	P;B;P;B;P;P;B;P	0.52957	0.53;0.229;0.599;0.143;0.557;0.714;0.385;0.588	T	0.20605	-1.0270	10	0.11794	T	0.64	-5.7697	6.1882	0.20510	0.7891:0.0:0.2109:0.0	.	111;37;126;111;26;98;98;98	B4DSH7;B4DE11;E7EW45;B4DE15;Q8NBD6;P78381-3;P78381-2;P78381	.;.;.;.;.;.;.;S35A2_HUMAN	D	98;98;98;98;37;74;126;26;98	ENSP00000247138:V98D;ENSP00000365704:V98D;ENSP00000393233:V37D;ENSP00000416002:V126D;ENSP00000415518:V26D	ENSP00000247138:V98D	V	-	2	0	SLC35A2	48648746	0.074000	0.21230	0.953000	0.39169	0.757000	0.42996	1.331000	0.33793	0.726000	0.32339	0.486000	0.48141	GTT		0.552	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		20	36	20	36
RENBP	5973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153209006	153209006	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:153209006G>A	ENST00000393700.3	-	5	534	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R152W|RENBP_ENST00000369997.3_Missense_Mutation_p.R138W	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	152					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCTGGTACCGCACTTCCCCT	0.622																																																0													116.0	66.0	83.0					X																	153209006		2202	4300	6502	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.454C>T	X.37:g.153209006G>A	ENSP00000377303:p.Arg152Trp		B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767842	0.49680	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.32753	1.44;1.47;1.44	4.68	3.81	0.43845	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.482456	0.23060	N	0.052389	T	0.43211	0.1237	L	0.58302	1.8	0.09310	N	1	D;D	0.89917	1.0;0.999	P;P	0.57204	0.613;0.815	T	0.24835	-1.0149	10	0.51188	T	0.08	-2.0354	11.0387	0.47818	0.0965:0.0:0.9035:0.0	.	152;152	P51606-2;P51606	.;RENBP_HUMAN	W	152;152;138	ENSP00000377303:R152W;ENSP00000387811:R152W;ENSP00000359014:R138W	ENSP00000359014:R138W	R	-	1	2	RENBP	152862200	0.008000	0.16893	0.001000	0.08648	0.017000	0.09413	1.702000	0.37836	0.879000	0.35944	0.513000	0.50165	CGG		0.622	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		37	33	37	33
EVX2	344191	broad.mit.edu;ucsc.edu	37	2	176948214	176948214	+	Missense_Mutation	SNP	C	C	G	rs575398101		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:176948214C>G	ENST00000308618.4	-	1	427	c.291G>C	c.(289-291)gaG>gaC	p.E97D		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	97					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTGCGGCTCTCGGCGGCGG	0.642																																																0													30.0	38.0	35.0					2																	176948214		2203	4299	6502	SO:0001583	missense	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.291G>C	2.37:g.176948214C>G	ENSP00000312385:p.Glu97Asp			Missense_Mutation	SNP	ENST00000308618.4	37	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.165004	0.06502	.	.	ENSG00000174279	ENST00000308618	D	0.91068	-2.78	5.84	1.77	0.24775	.	0.320386	0.35179	N	0.003390	T	0.81922	0.4925	L	0.38175	1.15	0.37021	D	0.896225	B	0.12013	0.005	B	0.12156	0.007	T	0.69752	-0.5060	10	0.12430	T	0.62	-12.7058	7.6805	0.28511	0.0:0.3376:0.453:0.2094	.	97	Q03828	EVX2_HUMAN	D	97	ENSP00000312385:E97D	ENSP00000312385:E97D	E	-	3	2	EVX2	176656460	0.007000	0.16637	0.695000	0.30226	0.819000	0.46315	-0.925000	0.03992	0.311000	0.23014	0.561000	0.74099	GAG		0.642	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			17	48	17	48
