#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_BAM_File	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACAP2	23527	hgsc.bcm.edu;ucsc.edu	37	3	195016613	195016613	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr3:195016613T>G	ENST00000326793.6	-	17	1726	c.1496A>C	c.(1495-1497)aAg>aCg	p.K499T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	499	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K499T(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATATGCCTCCTTCTCCTGTCT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											74.0	74.0	74.0					3																	195016613		2203	4300	6503	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1496A>C	3.37:g.195016613T>G	ENSP00000324287:p.Lys499Thr		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.75|16.75	3.210184|3.210184	0.58343|0.58343	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000450200|ENST00000326793	T|T	0.43688|0.43688	0.94|0.94	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.252428	.|0.46442	.|D	.|0.000287	T|T	0.69424|0.69424	0.3109|0.3109	M|M	0.90922|0.90922	3.16|3.16	0.39948|0.39948	D|D	0.974496|0.974496	.|D	.|0.63046	.|0.992	.|P	.|0.62560	.|0.904	T|T	0.78866|0.78866	-0.2035|-0.2035	7|10	0.15952|0.87932	T|D	0.53|0	.|.	15.0777|15.0777	0.72090|0.72090	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|499	.|Q15057	.|ACAP2_HUMAN	D|T	57|499	ENSP00000412338:E57D|ENSP00000324287:K499T	ENSP00000412338:E57D|ENSP00000324287:K499T	E|K	-|-	3|2	2|0	ACAP2|ACAP2	196497902|196497902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	4.586000|4.586000	0.60984|0.60984	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.343	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2		NM_012287	
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	99194855	99194855	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr12:99194855C>T	ENST00000547776.2	-	20	3114	c.3115G>A	c.(3115-3117)Gcc>Acc	p.A1039T	ANKS1B_ENST00000549493.2_Missense_Mutation_p.A289T|ANKS1B_ENST00000546960.1_Missense_Mutation_p.A265T|ANKS1B_ENST00000550693.2_Missense_Mutation_p.A229T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A1039T|ANKS1B_ENST00000341752.7_Missense_Mutation_p.A45T|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A555T|ANKS1B_ENST00000549025.2_Missense_Mutation_p.A137T|ANKS1B_ENST00000547446.1_Missense_Mutation_p.A174T|ANKS1B_ENST00000549558.2_Missense_Mutation_p.A205T|ANKS1B_ENST00000546568.1_Missense_Mutation_p.A205T|ANKS1B_ENST00000333732.7_Missense_Mutation_p.A69T|ANKS1B_ENST00000332712.7_Missense_Mutation_p.A229T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1039						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.A1039T(1)|p.A289T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGGCTGTGGCTTCATTCGGA	0.453																																																	2	Substitution - Missense(2)	kidney(2)											73.0	76.0	75.0					12																	99194855		1940	4139	6079	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3115G>A	12.37:g.99194855C>T	ENSP00000449629:p.Ala1039Thr		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210886	0.79240	.	.	ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000007	T	0.26268	0.0641	L	0.38175	1.15	0.48632	D	0.999682	B;B;B;P;P;B;P;B;P;P;P;D;B	0.69078	0.089;0.018;0.01;0.562;0.708;0.193;0.562;0.371;0.708;0.917;0.562;0.997;0.328	B;B;B;B;B;B;B;B;B;P;B;D;B	0.77004	0.062;0.023;0.01;0.413;0.269;0.079;0.316;0.141;0.269;0.615;0.439;0.989;0.155	T	0.00324	-1.1817	10	0.46703	T	0.11	-8.022	12.7742	0.57437	0.0:0.9247:0.0:0.0753	.	174;69;69;265;229;179;253;205;289;137;555;1039;205	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	T	45;205;1039;555;1039;554;229;137;289;174;69;205;229;130;265	ENSP00000345510:A45T;ENSP00000448993:A205T;ENSP00000449629:A1039T;ENSP00000448512:A555T;ENSP00000331381:A1039T;ENSP00000447999:A229T;ENSP00000447312:A137T;ENSP00000448203:A289T;ENSP00000450015:A174T;ENSP00000331256:A69T;ENSP00000448205:A205T;ENSP00000332683:A229T;ENSP00000447839:A265T	ENSP00000331381:A1039T	A	-	1	0	ANKS1B	97718986	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.742000	0.68646	2.657000	0.90304	0.655000	0.94253	GCC		0.453	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140	
C17orf97	400566	hgsc.bcm.edu	37	17	263294	263294	+	Missense_Mutation	SNP	C	C	G	rs35229416|rs71145727	byFrequency	TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr17:263294C>G	ENST00000360127.6	+	2	676	c.660C>G	c.(658-660)gaC>gaG	p.D220E	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	220	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		D -> E (in dbSNP:rs35229416). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCGACCCCGACGCCCTCAAGG	0.672													G|||	2875	0.574081	0.9115	0.4107	5008	,	,		7576	0.5377		0.328	False		,,,				2504	0.5245																0													7.0	16.0	14.0					17																	263294		1659	4162	5821	SO:0001583	missense	400566			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.660C>G	17.37:g.263294C>G	ENSP00000353245:p.Asp220Glu		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	1068	0.489010989010989	398	0.8089430894308943	137	0.3784530386740331	306	0.534965034965035	227	0.2994722955145119	G	0	-2.690134	0.00100	.	.	ENSG00000187624	ENST00000360127	T	0.27557	1.66	1.46	-2.92	0.05615	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.50996	-0.8761	7	0.02654	T	1	.	1.2875	0.02053	0.1416:0.2806:0.3205:0.2573	.	220	Q6ZQX7-4	.	E	220	ENSP00000353245:D220E	ENSP00000353245:D220E	D	+	3	2	C17orf97	.	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.737000	0.00379	-5.359000	0.00016	-5.120000	0.00001	GAC		0.672	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4		NM_001013672	
CEP57L1	285753	broad.mit.edu;hgsc.bcm.edu	37	6	109484145	109484145	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr6:109484145G>T	ENST00000517392.1	+	11	1781	c.1355G>T	c.(1354-1356)aGa>aTa	p.R452I	CEP57L1_ENST00000520883.1_Missense_Mutation_p.R352I|CEP57L1_ENST00000407272.1_Missense_Mutation_p.R452I|CEP57L1_ENST00000521522.1_Missense_Mutation_p.R399I|CEP57L1_ENST00000368970.2_Missense_Mutation_p.R469I|CEP57L1_ENST00000336977.4_Missense_Mutation_p.R352I|C6orf183_ENST00000417143.3_RNA|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000359793.3_Missense_Mutation_p.R452I|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R455I	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	452					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R452I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						ATGAAATTGAGAAGAGATGAT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											56.0	57.0	57.0					6																	109484145		2203	4300	6503	SO:0001583	missense	285753			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1355G>T	6.37:g.109484145G>T	ENSP00000427844:p.Arg452Ile		G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327299	0.81690	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;T	0.55052	0.62;0.62;0.58;0.54;0.66;0.58;0.62;0.62	5.68	5.68	0.88126	.	0.273372	0.36482	N	0.002568	T	0.39682	0.1087	M	0.61703	1.905	0.58432	D	0.999991	P	0.52316	0.952	B	0.41988	0.372	T	0.51568	-0.8689	10	0.87932	D	0	-8.2543	11.0829	0.48070	0.0848:0.0:0.9152:0.0	.	452	Q8IYX8	CE57L_HUMAN	I	452;452;352;399;469;352;455;452	ENSP00000427844:R452I;ENSP00000383936:R452I;ENSP00000337392:R352I;ENSP00000428344:R399I;ENSP00000357966:R469I;ENSP00000430011:R352I;ENSP00000430529:R455I;ENSP00000352841:R452I	ENSP00000337392:R352I	R	+	2	0	CEP57L1	109590838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.884000	0.56175	2.838000	0.97847	0.591000	0.81541	AGA		0.333	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4		NM_173830	
CRELD1	78987	broad.mit.edu;hgsc.bcm.edu	37	3	9982650	9982650	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr3:9982650G>A	ENST00000383811.3	+	5	1176	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	CRELD1_ENST00000326434.5_Missense_Mutation_p.G193S|CRELD1_ENST00000452070.1_Missense_Mutation_p.G193S|CRELD1_ENST00000397170.3_Missense_Mutation_p.G193S	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	193	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G193S(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGAGGCCTGTGGCCAGTGTGG	0.637																																																	2	Substitution - Missense(2)	kidney(2)											61.0	63.0	62.0					3																	9982650		2203	4300	6503	SO:0001583	missense	78987			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.577G>A	3.37:g.9982650G>A	ENSP00000373322:p.Gly193Ser		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944786	0.18356	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.60920	0.27;0.27;0.27;0.15	5.33	4.46	0.54185	EGF-like, laminin (1);Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.426939	0.25636	N	0.029309	T	0.21347	0.0514	N	0.01048	-1.04	0.29752	N	0.836289	B;B	0.33940	0.011;0.433	B;B	0.26310	0.009;0.068	T	0.13308	-1.0514	9	.	.	.	.	8.0264	0.30440	0.1831:0.0:0.8169:0.0	.	193;193	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	S	193	ENSP00000380355:G193S;ENSP00000373322:G193S;ENSP00000393643:G193S;ENSP00000321856:G193S	.	G	+	1	0	CRELD1	9957650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.996000	0.40776	1.249000	0.43950	0.561000	0.74099	GGC		0.637	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1		NM_015513	
DHX33	56919	broad.mit.edu	37	17	5372140	5372140	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr17:5372140G>A	ENST00000225296.3	-	1	240	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_Missense_Mutation_p.R14W	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	14					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.R14W(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGCCTGGCCGGAATCTCTTG	0.731																																																	1	Substitution - Missense(1)	kidney(1)											4.0	6.0	5.0					17																	5372140		2096	4153	6249	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.40C>T	17.37:g.5372140G>A	ENSP00000225296:p.Arg14Trp		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577137	0.86645	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.28255	1.62;1.62	4.96	2.92	0.33932	.	0.143578	0.47852	D	0.000211	T	0.19685	0.0473	N	0.19112	0.55	0.23162	N	0.998198	D;D	0.64830	0.994;0.975	P;B	0.44477	0.451;0.333	T	0.08006	-1.0743	10	0.66056	D	0.02	.	7.0017	0.24813	0.0895:0.0:0.7389:0.1716	.	14;14	Q05BE5;Q9H6R0	.;DHX33_HUMAN	W	14	ENSP00000225296:R14W;ENSP00000413779:R14W	ENSP00000225296:R14W	R	-	1	2	DHX33	5312864	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.147000	0.42226	0.642000	0.30620	0.462000	0.41574	CGG		0.731	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2		NM_020162	
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	byFrequency	TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1				espin pseudogene																		GGAACATCACGTTGAAAGACT	0.622													g|||	1575	0.314497	0.1225	0.3573	5008	,	,		39681	0.4563		0.332	False		,,,				2504	0.3793																0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023403G>A				Silent	SNP	ENST00000492551.1	37																																																																																					0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			
FAM76A	199870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28060630	28060630	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:28060630C>T	ENST00000373954.6	+	4	392	c.290C>T	c.(289-291)cCa>cTa	p.P97L	FAM76A_ENST00000234549.7_Missense_Mutation_p.P131L|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000010299.6_Missense_Mutation_p.P131L|FAM76A_ENST00000530324.1_Missense_Mutation_p.P97L|FAM76A_ENST00000373949.1_Missense_Mutation_p.P97L	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	97								p.P97L(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTATGGACCACCCTATTCT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											103.0	102.0	103.0					1																	28060630		2203	4300	6503	SO:0001583	missense	199870			AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.290C>T	1.37:g.28060630C>T	ENSP00000363065:p.Pro97Leu		B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	ENST00000373954.6	37	CCDS309.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230164	0.58777	.	.	ENSG00000009780	ENST00000373954;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299	T;T	0.33438	1.45;1.41	5.76	4.84	0.62591	.	0.088582	0.49916	D	0.000130	T	0.32585	0.0834	L	0.56769	1.78	0.80722	D	1	B;B;B;B;B	0.14438	0.001;0.001;0.004;0.01;0.002	B;B;B;B;B	0.22753	0.018;0.008;0.014;0.041;0.015	T	0.08576	-1.0715	10	0.51188	T	0.08	-21.6608	13.6801	0.62479	0.0:0.926:0.0:0.074	.	97;97;131;131;97	E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;FA76A_HUMAN	L	97;97;131;97;131	ENSP00000234549:P131L;ENSP00000010299:P131L	ENSP00000010299:P131L	P	+	2	0	FAM76A	27933217	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	4.056000	0.57448	2.880000	0.98712	0.650000	0.86243	CCA		0.383	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3		NM_152660	
FAM83G	644815	hgsc.bcm.edu	37	17	18874924	18874925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr17:18874924_18874925insC	ENST00000388995.6	-	6	2442_2443	c.2219_2220insG	c.(2218-2220)ggcfs	p.G740fs	FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.G740fs|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.G740fs|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	740					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGTGGTGGGGGCCAGCCATGGC	0.653																																																	0																																										SO:0001589	frameshift_variant	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2220dupG	17.37:g.18874926_18874926dupC	ENSP00000373647:p.Gly740fs		Q3KQZ4|Q6ZW60	Frame_Shift_Ins	INS	ENST00000388995.6	37	CCDS42276.1																																																																																				0.653	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			
GABRR1	2569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	89891701	89891701	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr6:89891701G>T	ENST00000454853.2	-	8	982	c.872C>A	c.(871-873)cCc>cAc	p.P291H	GABRR1_ENST00000369451.3_Missense_Mutation_p.P204H|GABRR1_ENST00000435811.1_Missense_Mutation_p.P274H	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	291					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P285H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CAGGGTAGCGGGGAAATAAGT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											171.0	155.0	160.0					6																	89891701		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.872C>A	6.37:g.89891701G>T	ENSP00000412673:p.Pro291His		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889442	0.91889	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.99382	-5.8;-5.8;-5.8	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96917	0.9671	9	.	.	.	-13.7572	18.9265	0.92548	0.0:0.0:1.0:0.0	.	274;291	P24046-2;P24046	.;GBRR1_HUMAN	H	291;274;204;204	ENSP00000412673:P291H;ENSP00000394687:P274H;ENSP00000358463:P204H	.	P	-	2	0	GABRR1	89948420	1.000000	0.71417	0.946000	0.38457	0.862000	0.49288	9.869000	0.99810	2.463000	0.83235	0.563000	0.77884	CCC		0.512	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			
HEATR1	55127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	236766491	236766491	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:236766491C>T	ENST00000366582.3	-	3	442	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HEATR1_ENST00000366579.1_Missense_Mutation_p.A110T|HEATR1_ENST00000366581.2_Missense_Mutation_p.A110T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	110					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.A110T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTCTGTGCTGGCTTAAGC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											135.0	121.0	126.0					1																	236766491		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.328G>A	1.37:g.236766491C>T	ENSP00000355541:p.Ala110Thr		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902291	0.92035	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.52754	0.65;0.65;0.65	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71034	-0.4709	10	0.54805	T	0.06	.	18.9227	0.92532	0.0:1.0:0.0:0.0	.	110	Q9H583	HEAT1_HUMAN	T	110	ENSP00000355541:A110T;ENSP00000355540:A110T;ENSP00000355538:A110T	ENSP00000355538:A110T	A	-	1	0	HEATR1	234833114	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	7.484000	0.81180	2.475000	0.83589	0.563000	0.77884	GCA		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853	
KLHL8	57563	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88106697	88106697	+	Silent	SNP	A	A	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr4:88106697A>G	ENST00000273963.5	-	3	812	c.471T>C	c.(469-471)tgT>tgC	p.C157C	KLHL8_ENST00000498875.2_Silent_p.C81C|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Silent_p.C157C|KLHL8_ENST00000425278.2_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	157					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.C157C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCATGTATTCACAACAAGCTC	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	107.0	108.0					4																	88106697		2203	4300	6503	SO:0001819	synonymous_variant	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.471T>C	4.37:g.88106697A>G			Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	CCDS3617.1																																																																																				0.438	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			
LMAN2	10960	broad.mit.edu	37	5	176778599	176778599	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr5:176778599A>G	ENST00000303127.7	-	1	254	c.50T>C	c.(49-51)cTg>cCg	p.L17P	LMAN2_ENST00000515209.1_Missense_Mutation_p.L17P|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	17					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.L17P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTTCCCAGGCACCGCCG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											23.0	28.0	27.0					5																	176778599		2203	4300	6503	SO:0001583	missense	10960			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.50T>C	5.37:g.176778599A>G	ENSP00000303366:p.Leu17Pro		Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	CCDS4417.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055702	0.36277	.	.	ENSG00000169223	ENST00000303127;ENST00000515209;ENST00000514458;ENST00000502560	T;T;T;T	0.65732	-0.12;-0.14;-0.17;-0.11	5.25	-1.46	0.08800	.	0.617589	0.16667	N	0.204546	T	0.33177	0.0854	N	0.08118	0	0.32902	D	0.513276	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13361	-1.0512	10	0.29301	T	0.29	-4.9463	5.9228	0.19093	0.3324:0.0:0.5452:0.1224	.	17;17	Q12907;D6RBV2	LMAN2_HUMAN;.	P	17	ENSP00000303366:L17P;ENSP00000423998:L17P;ENSP00000424132:L17P;ENSP00000425229:L17P	ENSP00000303366:L17P	L	-	2	0	LMAN2	176711205	0.318000	0.24598	0.924000	0.36721	0.961000	0.63080	-0.345000	0.07770	-0.152000	0.11156	-0.269000	0.10298	CTG		0.637	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1		NM_006816	
MAP3K5	4217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136972151	136972151	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr6:136972151A>C	ENST00000359015.4	-	11	2119	c.1759T>G	c.(1759-1761)Tct>Gct	p.S587A	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	587					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.S587A(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGCCAAATAGAGATTGTCTTT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											146.0	122.0	130.0					6																	136972151		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1759T>G	6.37:g.136972151A>C	ENSP00000351908:p.Ser587Ala		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391135	0.82902	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.69561	-0.41	4.73	4.73	0.59995	.	0.052521	0.85682	D	0.000000	T	0.71837	0.3387	M	0.72576	2.205	0.80722	D	1	P;P	0.52842	0.768;0.956	B;D	0.65010	0.222;0.931	T	0.70641	-0.4816	10	0.27082	T	0.32	.	14.5483	0.68047	1.0:0.0:0.0:0.0	.	667;587	Q59GL6;Q99683	.;M3K5_HUMAN	A	587;667	ENSP00000351908:S587A	ENSP00000351908:S587A	S	-	1	0	MAP3K5	137013844	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	8.648000	0.91062	1.889000	0.54706	0.528000	0.53228	TCT		0.348	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			
MARK1	4139	broad.mit.edu;hgsc.bcm.edu	37	1	220835248	220835248	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:220835248A>G	ENST00000366917.4	+	18	2394	c.2128A>G	c.(2128-2130)Agt>Ggt	p.S710G	MARK1_ENST00000402574.1_Missense_Mutation_p.S560G|MARK1_ENST00000366918.4_Missense_Mutation_p.S673G|RP11-322F10.2_ENST00000446040.1_RNA					MAP/microtubule affinity-regulating kinase 1									p.S710G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAGACCACTAGTTCAATGGA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											78.0	77.0	77.0					1																	220835248		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2128A>G	1.37:g.220835248A>G	ENSP00000355884:p.Ser710Gly			Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406636	0.83230	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.55930	0.49;0.49;0.49	5.92	5.92	0.95590	Kinase-associated KA1 (2);	0.110772	0.64402	D	0.000004	T	0.77624	0.4158	M	0.88450	2.955	0.49798	D	0.999826	D;D;D;D	0.89917	1.0;0.969;0.999;1.0	D;D;D;D	0.91635	0.999;0.918;0.971;0.994	T	0.82210	-0.0570	10	0.87932	D	0	.	16.3782	0.83418	1.0:0.0:0.0:0.0	.	695;560;710;673	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	G	560;673;710	ENSP00000386017:S560G;ENSP00000355885:S673G;ENSP00000355884:S710G	ENSP00000355884:S710G	S	+	1	0	MARK1	218901871	1.000000	0.71417	0.639000	0.29394	0.997000	0.91878	7.059000	0.76684	2.277000	0.76020	0.528000	0.53228	AGT		0.398	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			
MED1	5469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37565879	37565879	+	Silent	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr17:37565879G>A	ENST00000300651.6	-	17	2818	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.F865F(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AATCAGGATTGAAATCTACTC	0.393										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												1	Substitution - coding silent(1)	kidney(1)											77.0	80.0	79.0					17																	37565879		2203	4298	6501	SO:0001819	synonymous_variant	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2595C>T	17.37:g.37565879G>A			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	CCDS11336.1																																																																																				0.393	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3		NM_004774	
METTL13	51603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171753287	171753287	+	Silent	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:171753287C>T	ENST00000361735.3	+	2	827	c.561C>T	c.(559-561)gcC>gcT	p.A187A	METTL13_ENST00000362019.3_Silent_p.A101A|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Silent_p.A186A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	187							methyltransferase activity (GO:0008168)	p.A187A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ACCAAGTGGCCAACAGCCAGG	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											57.0	61.0	59.0					1																	171753287		2203	4300	6503	SO:0001819	synonymous_variant	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.561C>T	1.37:g.171753287C>T			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	CCDS1299.1																																																																																				0.587	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5		NM_014955	
METTL13	51603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171756896	171756896	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:171756896G>A	ENST00000361735.3	+	4	1401	c.1135G>A	c.(1135-1137)Ggg>Agg	p.G379R	METTL13_ENST00000362019.3_Missense_Mutation_p.G293R|METTL13_ENST00000367737.5_Missense_Mutation_p.G223R|METTL13_ENST00000458517.1_Missense_Mutation_p.G378R	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	379							methyltransferase activity (GO:0008168)	p.G379R(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GTCTGTGGGTGGGGACATTGG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											50.0	49.0	49.0					1																	171756896		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1135G>A	1.37:g.171756896G>A	ENSP00000354920:p.Gly379Arg		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239315	0.79800	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.71	3.81	0.43845	.	0.153194	0.64402	D	0.000017	D	0.82628	0.5078	M	0.72894	2.215	0.46823	D	0.99921	D;D;D	0.89917	0.967;1.0;0.998	P;D;D	0.83275	0.632;0.996;0.937	D	0.84720	0.0739	10	0.62326	D	0.03	-10.6044	12.3214	0.54987	0.1415:0.0:0.8585:0.0	.	378;223;379	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	R	378;293;223;379	ENSP00000401955:G378R;ENSP00000355393:G293R;ENSP00000356711:G223R;ENSP00000354920:G379R	ENSP00000354920:G379R	G	+	1	0	METTL13	170023519	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	6.418000	0.73341	1.399000	0.46721	0.655000	0.94253	GGG		0.498	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5		NM_014955	
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110412378	110412378	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr8:110412378T>A	ENST00000378402.5	+	13	1190	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	362					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.N364K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAATACAATGAAAAAACGC	0.418										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	kidney(1)											242.0	238.0	239.0					8																	110412378		1863	4102	5965	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1086T>A	8.37:g.110412378T>A	ENSP00000367655:p.Asn362Lys		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534533	0.27475	.	.	ENSG00000205038	ENST00000378402	D	0.86497	-2.13	5.32	1.06	0.20224	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.128382	0.49305	D	0.000147	T	0.79747	0.4499	L	0.50333	1.59	0.29809	N	0.831824	P	0.40731	0.728	B	0.34590	0.186	T	0.75414	-0.3326	10	0.66056	D	0.02	.	8.8333	0.35098	0.0:0.2739:0.0:0.7261	.	362	Q86WI1	PKHL1_HUMAN	K	362	ENSP00000367655:N362K	ENSP00000367655:N362K	N	+	3	2	PKHD1L1	110481554	0.980000	0.34600	0.586000	0.28679	0.137000	0.21094	0.158000	0.16422	0.300000	0.22699	0.460000	0.39030	AAT		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	
POLA1	5422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24735484	24735484	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chrX:24735484G>A	ENST00000379059.3	+	9	781	c.766G>A	c.(766-768)Gag>Aag	p.E256K	POLA1_ENST00000379068.3_Missense_Mutation_p.E262K	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	256					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.E256K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGACTTTGATGAGCCCATGGA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											158.0	126.0	137.0					X																	24735484		2203	4300	6503	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.766G>A	X.37:g.24735484G>A	ENSP00000368349:p.Glu256Lys		Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502574	0.85176	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18016	2.24;2.24	4.47	4.47	0.54385	.	0.052171	0.85682	D	0.000000	T	0.32406	0.0828	M	0.76328	2.33	0.80722	D	1	D;P	0.52996	0.957;0.917	P;P	0.54174	0.744;0.524	T	0.15867	-1.0422	10	0.14656	T	0.56	-9.6567	16.5259	0.84331	0.0:0.0:1.0:0.0	.	262;256	A6NMQ1;P09884	.;DPOLA_HUMAN	K	262;256	ENSP00000368358:E262K;ENSP00000368349:E256K	ENSP00000368349:E256K	E	+	1	0	POLA1	24645405	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	8.374000	0.90133	2.072000	0.62099	0.292000	0.19580	GAG		0.512	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1		NM_016937	
PRKDC	5591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48767813	48767813	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr8:48767813C>T	ENST00000314191.2	-	51	6784	c.6728G>A	c.(6727-6729)tGc>tAc	p.C2243Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.C2243Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2244					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.C2244Y(1)|p.C2243Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCCTTCCAGCACTCGACAAG	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												2	Substitution - Missense(2)	kidney(2)											75.0	68.0	70.0					8																	48767813		1830	4084	5914	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6728G>A	8.37:g.48767813C>T	ENSP00000313420:p.Cys2243Tyr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.017492	0.75161	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64260	-0.09;-0.09	5.06	5.06	0.68205	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.979	T	0.83231	-0.0063	10	0.72032	D	0.01	.	17.771	0.88493	0.0:1.0:0.0:0.0	.	2243;2244	E7EUY0;P78527	.;PRKDC_HUMAN	Y	2243	ENSP00000313420:C2243Y;ENSP00000345182:C2243Y	ENSP00000313420:C2243Y	C	-	2	0	PRKDC	48930366	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.445000	0.80570	2.521000	0.84997	0.650000	0.86243	TGC		0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640	
REG3G	130120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	79255044	79255044	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr2:79255044C>A	ENST00000272324.5	+	5	629	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	REG3G_ENST00000393897.2_Missense_Mutation_p.L149M|REG3G_ENST00000409471.1_Missense_Mutation_p.L103M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	149	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.L149M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTGGGAGCCTGTCAAGAAG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											103.0	105.0	105.0					2																	79255044		2203	4300	6503	SO:0001583	missense	130120			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.445C>A	2.37:g.79255044C>A	ENSP00000272324:p.Leu149Met		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025627	0.54683	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.22336	1.96;1.96;2.12	4.73	1.86	0.25419	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.531540	0.15838	N	0.242182	T	0.38453	0.1041	L	0.52823	1.66	0.09310	N	1	D;P	0.71674	0.998;0.943	D;D	0.74674	0.984;0.937	T	0.18209	-1.0344	10	0.44086	T	0.13	.	12.7348	0.57216	0.0:0.5093:0.4907:0.0	.	103;149	Q3SYE6;Q6UW15	.;REG3G_HUMAN	M	149;149;103	ENSP00000377475:L149M;ENSP00000272324:L149M;ENSP00000387105:L103M	ENSP00000272324:L149M	L	+	1	2	REG3G	79108552	0.001000	0.12720	0.001000	0.08648	0.693000	0.40251	-0.439000	0.06897	0.287000	0.22375	0.650000	0.86243	CTG		0.483	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1		NM_198448	
RFPL1	5988	hgsc.bcm.edu	37	22	29834853	29834853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr22:29834853delC	ENST00000354373.2	+	1	282	c.73delC	c.(73-75)cccfs	p.P25fs	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	25							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GTGCACTTTTCCCCTGGCAGT	0.488																																																	0													100.0	96.0	98.0					22																	29834853		2203	4300	6503	SO:0001589	frameshift_variant	5988			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.73delC	22.37:g.29834853delC	ENSP00000346342:p.Pro25fs		Q6IC06|Q9UJ97	Frame_Shift_Del	DEL	ENST00000354373.2	37	CCDS13857.2																																																																																				0.488	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1		NM_021026	
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33873752	33873752	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr15:33873752T>C	ENST00000389232.4	+	14	1551	c.1481T>C	c.(1480-1482)gTc>gCc	p.V494A	RYR3_ENST00000415757.3_Missense_Mutation_p.V494A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	494			V -> I (in dbSNP:rs2077268). {ECO:0000269|PubMed:9515741}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V494A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGCTTAAATGTCTACAATAGC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											139.0	139.0	139.0					15																	33873752		1918	4145	6063	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1481T>C	15.37:g.33873752T>C	ENSP00000373884:p.Val494Ala		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924323	0.52653	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95171	-3.63;-3.63	5.41	5.41	0.78517	Intracellular calcium-release channel (1);	0.353051	0.25383	N	0.031074	D	0.92609	0.7652	M	0.70275	2.135	0.25085	N	0.990895	B;B	0.20164	0.042;0.01	B;B	0.21151	0.033;0.023	T	0.83349	-0.0004	10	0.25106	T	0.35	.	11.2782	0.49178	0.1446:0.0:0.0:0.8554	.	494;494	Q15413-2;Q15413	.;RYR3_HUMAN	A	494	ENSP00000373884:V494A;ENSP00000399610:V494A	ENSP00000354735:V494A	V	+	2	0	RYR3	31661044	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	5.007000	0.63984	2.051000	0.60960	0.460000	0.39030	GTC		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350758	+	Silent	SNP	C	C	T	rs201922875|rs553160982		TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chrX:50350758C>T	ENST00000289292.7	-	6	3667	c.3384G>A	c.(3382-3384)caG>caA	p.Q1128Q	SHROOM4_ENST00000376020.2_Silent_p.Q1128Q|SHROOM4_ENST00000460112.3_Silent_p.Q1012Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgct	0.592																																																	0													16.0	16.0	16.0					X																	50350758		2200	4287	6487	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3384G>A	X.37:g.50350758C>T			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.592	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717	
SLC11A1	6556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219254723	219254723	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr2:219254723C>A	ENST00000233202.6	+	9	1266	c.926C>A	c.(925-927)gCc>gAc	p.A309D	SLC11A1_ENST00000539932.1_Missense_Mutation_p.A191D	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	309					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.A309D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGCAGGCCTTCTACCAG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											165.0	128.0	141.0					2																	219254723		2203	4300	6503	SO:0001583	missense	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.926C>A	2.37:g.219254723C>A	ENSP00000233202:p.Ala309Asp		C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288524	0.80914	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.72394	-0.65;-0.65	5.1	5.1	0.69264	.	0.069495	0.64402	D	0.000014	T	0.76343	0.3974	M	0.70787	2.145	0.58432	D	0.999999	B;B;B	0.31318	0.045;0.319;0.18	B;B;B	0.39935	0.178;0.314;0.178	T	0.77310	-0.2635	10	0.59425	D	0.04	-28.5017	18.704	0.91631	0.0:1.0:0.0:0.0	.	309;191;309	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	D	309;191	ENSP00000233202:A309D;ENSP00000443435:A191D	ENSP00000233202:A309D	A	+	2	0	SLC11A1	218962967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.472000	0.60189	2.650000	0.89964	0.561000	0.74099	GCC		0.542	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2		NM_000578	
UCP1	7350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	141484270	141484270	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr4:141484270A>T	ENST00000262999.3	-	4	697	c.622T>A	c.(622-624)Tta>Ata	p.L208I		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	208					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)	p.L208I(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TTACCTGCTAATATGTTGTTT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											129.0	129.0	129.0					4																	141484270		2203	4300	6503	SO:0001583	missense	7350			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.622T>A	4.37:g.141484270A>T	ENSP00000262999:p.Leu208Ile		Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256799	0.22965	.	.	ENSG00000109424	ENST00000262999	T	0.77620	-1.11	5.22	1.27	0.21489	Mitochondrial carrier domain (2);	0.157271	0.44097	D	0.000485	T	0.79112	0.4391	L	0.52364	1.645	0.20638	N	0.99988	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.66240	-0.5973	10	0.39692	T	0.17	.	3.3858	0.07270	0.2725:0.0:0.4311:0.2964	.	207;208	Q4KMT7;P25874	.;UCP1_HUMAN	I	208	ENSP00000262999:L208I	ENSP00000262999:L208I	L	-	1	2	UCP1	141703720	0.304000	0.24472	0.061000	0.19648	0.034000	0.12701	0.157000	0.16402	-0.007000	0.14345	-1.172000	0.01736	TTA		0.403	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			
VHL	7428	hgsc.bcm.edu	37	3	10183776	10183776	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4974-01A-01D-1392-10	TCGA-BP-4974-11A-01D-1392-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	d82f43d1-a746-4ee6-a58b-3f0966072ae7	629d67a8-8738-427e-8276-926929e06641	g.chr3:10183776G>C	ENST00000256474.2	+	1	1085	c.245G>C	c.(244-246)cGc>cCc	p.R82P	VHL_ENST00000345392.2_Missense_Mutation_p.R82P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	82			Missing (in VHLD).|R -> P (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R82P(4)|p.P81fs*49(2)|p.S72_V87>L(1)|p.R82fs*75(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.V83fs*48(1)|p.V74fs*77(1)|p.R82L(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCAGTCCGCGCGTCGTGCTG	0.716		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	13	Deletion - Frameshift(7)|Substitution - Missense(5)|Complex - deletion inframe(1)	kidney(12)|adrenal_gland(1)	GRCh37	CD941806|CM023994	VHL	D|M							12.0	15.0	14.0					3																	10183776		2160	4219	6379	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.245G>C	3.37:g.10183776G>C	ENSP00000256474:p.Arg82Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402333	0.96030	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.101946	0.64402	D	0.000001	D	0.99799	0.9914	M	0.80183	2.485	0.43787	D	0.996324	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97000	0.9728	10	0.72032	D	0.01	-8.5138	16.8166	0.85735	0.0:0.0:1.0:0.0	.	82;82	P40337-2;P40337	.;VHL_HUMAN	P	82	ENSP00000256474:R82P;ENSP00000344757:R82P	ENSP00000256474:R82P	R	+	2	0	VHL	10158776	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.961000	0.70356	2.558000	0.86282	0.550000	0.68814	CGC		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
YEATS4	8089	broad.mit.edu	37	12	69756582	69756582	+	Silent	SNP	T	T	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr12:69756582T>G	ENST00000247843.2	+	2	336	c.66T>G	c.(64-66)gtT>gtG	p.V22V	YEATS4_ENST00000548020.1_Silent_p.V22V	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	22	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)	p.V22V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TTACTATCGTTAAACCAATAG	0.313																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	86.0	87.0					12																	69756582		2203	4300	6503	SO:0001819	synonymous_variant	8089			AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.66T>G	12.37:g.69756582T>G			Q9NQD0	Silent	SNP	ENST00000247843.2	37	CCDS8990.1																																																																																				0.313	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1		NM_006530	
ZNF320	162967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53385021	53385022	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr19:53385021_53385022TC>CA	ENST00000595635.1	-	8	858_859	c.357_358GA>TG	c.(355-360)ttGAct>ttTGct	p.119_120LT>FA	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.119_120LT>FA	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L119F(1)|p.T120A(1)|p.L119_T120>FA(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTACTACTAGTCAACTTTTTTA	0.391																																																	3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001583	missense	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.357_358delinsCA	19.37:g.53385021_53385022delinsCA	ENSP00000473091:p.L119_T120delinsFA		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1																																																																																				0.391	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1		NM_207333	
